Search Results - "DNA Copy Number Variations/genetics"
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1
Authors: et al.
Source: Nature Communications. 16(1)
Subject Terms: Benchmarking, Single-Cell Analysis/methods, Humans, DNA Copy Number Variations/genetics, RNA-Seq/methods, Computational Biology/methods, Neoplasms/genetics, Single-Cell Gene Expression Analysis
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2
Authors: et al.
Source: Traore, B, Kane, F, Toure, M, Jørgensen, M H M, Sanogo, D, Keita, S, Keita, M, Sogoba, N, Shaw-Saliba, K, Diakite, M, Shaffer, J G, Alifrangis, M, Hansson, H & Doumbia, S 2025, ' Frequencies of molecular markers of drug resistance in the context of two different Seasonal Malaria Chemoprevention (SMC) treatment regimens in the Koulikoro health district, Mali ', Antimicrobial Agents and Chemotherapy, vol. 69, no. 10, e0180624 . https://doi.org/10.1128/aac.01806-24
Subject Terms: Tetrahydrofolate Dehydrogenase/genetics, Drug Resistance/genetics, Pyrimethamine/therapeutic use, DNA Copy Number Variations/genetics, Malaria, Falciparum/prevention & control, Mali, Polymorphism, Single Nucleotide/genetics, Plasmodium falciparum/drug effects, Sulfadoxine/therapeutic use, Artemisinins/therapeutic use, Chemoprevention/methods, Piperazines, Drug Combinations, Multidrug Resistance-Associated Proteins/genetics, Haplotypes, Antimalarials/therapeutic use, Protozoan Proteins/genetics, Humans, Seasons, Membrane Transport Proteins/genetics, Aspartic Acid Endopeptidases/genetics, Quinolines/therapeutic use
File Description: application/pdf
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3
Authors: et al.
Source: Virchows Arch
Subject Terms: Adult, DNA Copy Number Variations, Oncogene Proteins, Fusion, Nuclear Proteins, Sarcoma, DNA Methylation, Middle Aged, DNA Methylation/genetics [MeSH], Female [MeSH], Histone Acetyltransferases/genetics [MeSH], Sarcoma/genetics [MeSH], Aged [MeSH], Adult [MeSH], DNA Copy Number Variations/genetics [MeSH], Humans [MeSH], KAT6B/A, Oncogene Proteins, Fusion/genetics [MeSH], KANSL1, Middle Aged [MeSH], Uterine sarcoma, Original Article, Nuclear Proteins/genetics [MeSH], Sarcoma/pathology [MeSH], Uterine Neoplasms/genetics [MeSH], DNA methylation, Uterine Neoplasms/pathology [MeSH], Uterine Neoplasms, Humans, Female, Aged, Histone Acetyltransferases
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4
Authors: et al.
Contributors: et al.
Source: Nature
Cornish, A J, Gruber, A J, Kinnersley, B, Chubb, D, Frangou, A, Caravagna, G, Noyvert, B, Lakatos, E, Wood, H M, Thorn, S, Culliford, R, Arnedo-Pac, C, Househam, J, Cross, W, Sud, A, Law, P, Leathlobhair, M N, Hawari, A, Woolley, C, Sherwood, K, Feeley, N, Gül, G, Fernandez-Tajes, J, Zapata, L, Alexandrov, L B, Murugaesu, N, Sosinsky, A, Mitchell, J, Lopez-Bigas, N, Quirke, P, Church, D N, Tomlinson, I P M, Sottoriva, A, Graham, T A, Wedge, D C & Houlston, R S 2024, 'The genomic landscape of 2,023 colorectal cancers', Nature, vol. 633, no. 8028, pp. 127-136. https://doi.org/10.1038/s41586-024-07747-9Subject Terms: Adult, Male, 0301 basic medicine, DNA Copy Number Variations, DNA Copy Number Variations/genetics, Evolutionary genetics, Article, Chromosomal Instability/genetics, Young Adult, 03 medical and health sciences, Diet/adverse effects, HLA Antigens, Chromosomal Instability, Genetics research, 80 and over, Smoking/adverse effects, Cancer genomics, cancer, Colorectal Neoplasms/classification, Humans, Genetic Predisposition to Disease, Aged, Aged, 80 and over, 0303 health sciences, Genome, Human/genetics, Whole Genome Sequencing, United Kingdom/epidemiology, Genome, Human, Genetic Predisposition to Disease/genetics, Smoking, HLA Antigens/genetics, Genomics, Middle Aged, Prognosis, Colorectal cancer, Diet, 3. Good health, Mutation, Genome, Human/genetics, Next-generation sequencing, Female, Microsatellite Instability, Colorectal Neoplasms
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/39112709
https://hdl.handle.net/11368/3101900
https://www.nature.com/articles/s41586-024-07747-9
https://ora.ox.ac.uk/objects/uuid:ec6fa4cd-ba6b-4084-b70c-6e4c0dfd8b97
https://doi.org/10.1038/s41586-024-07747-9
https://hdl.handle.net/11368/3101900
https://www.nature.com/articles/s41586-024-07747-9
https://doi.org/10.1038/s41586-024-07747-9
http://www.scopus.com/inward/record.url?scp=85200671500&partnerID=8YFLogxK
https://doi.org/10.1038/s41586-024-07747-9
https://research.manchester.ac.uk/en/publications/8ce2a9cf-9a92-4c8a-a6ba-d4ad170e422b -
5
Authors: et al.
Source: Am J Hum Genet
American journal of human genetics, vol. 111, no. 4, pp. 701-713
Quinodoz, Mathieu; Kaminska, Karolina; Cancellieri, Francesca; Han, Ji Hoon; Peter, Virginie G; Celik, Elifnaz; Janeschitz-Kriegl, Lucas; Schärer, Nils; Hauenstein, Daniela; György, Bence; Calzetti, Giacomo; Hahaut, Vincent; Custódio, Sónia; Sousa, Ana Cristina; Wada, Yuko; Murakami, Yusuke; Fernández, Almudena Avila; Hernández, Cristina Rodilla; Minguez, Pablo; Ayuso, Carmen; ... (2024). Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads. American journal of human genetics, 111(4), pp. 701-713. Cell Press 10.1016/j.ajhg.2024.03.001 <http://dx.doi.org/10.1016/j.ajhg.2024.03.001>Subject Terms: Humans, Algorithms, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Exome, DNA Copy Number Variations/genetics, Neoplasms/genetics, DNA Copy Number Variations, Neoplasms, 610 Medicine & health, Article, 3. Good health
File Description: application/pdf
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6
Authors: et al.
Source: Theranostics
Lv, W, Pan, X, Han, P, Wu, S, Zeng, Y, Wang, Q, Guo, L, Xu, M, Qi, Y, Deng, L, Xu, Z, Li, C, Yu, T, Cui, X, Teng, H, Xiang, C, Tan, H, Li, Y, Liang, N, Tao, H, Gao, Q, Yu, G, Mi, J, Xu, F, Gong, B, Shi, L, Wang, T, Yang, H, Dong, W, Bolund, L, Lin, L, Wang, W, Li, H, Huang, J, Lin, C & Luo, Y 2024, ' Extrachromosomal circular DNA orchestrates genome heterogeneity in urothelial bladder carcinoma ', Theranostics, vol. 14, no. 13, pp. 5102-5122 . https://doi.org/10.7150/thno.99563Subject Terms: Male, Mutation/genetics, DNA Copy Number Variations, Whole Genome Sequencing, Urinary Bladder Neoplasms/genetics, DNA Copy Number Variations/genetics, Exome Sequencing/methods, Genetic Heterogeneity, Urinary Bladder Neoplasms, Whole Genome Sequencing/methods, Exome Sequencing, Mutation, DNA, Circular/genetics, Humans, Female, DNA, Circular, Research Paper, Aged
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7
Authors: et al.
Contributors: et al.
Source: Journal of Medical Genetics
Subject Terms: Mutation/genetics, DNA Copy Number Variations, genetics, genomics, human genetics, neuromuscular diseases, Pédiatrie, DNA Copy Number Variations/genetics, Pediatrics, Sciences de la santé humaine, Human genetics, TTN protein, human, Genetics, Humans, Connectin, Human health sciences, Muscle, Skeletal, Genetics (clinical), Connectin/genetics, Genomics, Distal Myopathies/genetics, [SDV] Life Sciences [q-bio], Distal Myopathies, Neuromuscular diseases, Biomedicine, Phenotype, Muscle, Skeletal/pathology, Mutation
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/37935568
https://hdl.handle.net/2268/325163
https://doi.org/10.1136/jmg-2023-109473
http://hdl.handle.net/10138/571141
https://hal.science/hal-04274614v1
https://hal.science/hal-04274614v1/document
https://doi.org/10.1136/jmg-2023-109473
https://hdl.handle.net/2318/2042030
https://doi.org/10.1136/jmg-2023-109473 -
8
Authors: et al.
Contributors: et al.
Source: Acta Neuropathol
Jotanovic, J, Boldt, H B, Burton, M, Andersen, M S, Bengtsson, D, Bontell, T O, Ekman, B, Engström, B E, Feldt-Rasmussen, U, Heck, A, Jakovcevic, A, Jørgensen, J O L, Kraljevic, I, Kunicki, J, Lindsay, J R, Losa, M, Loughrey, P B, Maiter, D, Maksymowicz, M, Manojlovic-Gacic, E, Pahnke, J, Petersenn, S, Petersson, M, Popovic, V, Ragnarsson, O, Rasmussen, Å K, Reisz, Z, Saeger, W, Schalin-Jäntti, C, Scheie, D, Terreni, M R, Tynninen, O, Whitelaw, B, Burman, P & Casar-Borota, O 2024, 'Genome-wide methylation profiling differentiates benign from aggressive and metastatic pituitary neuroendocrine tumors', Acta Neuropathologica, vol. 148, 68. https://doi.org/10.1007/s00401-024-02836-5
Jotanovic, J, Boldt, H B, Burton, M, Andersen, M S, Bengtsson, D, Bontell, T O, Ekman, B, Engström, B E, Feldt-Rasmussen, U, Heck, A, Jakovcevic, A, Jørgensen, J O L, Kraljevic, I, Kunicki, J, Lindsay, J R, Losa, M, Loughrey, P B, Maiter, D, Maksymowicz, M, Manojlovic-Gacic, E, Pahnke, J, Petersenn, S, Petersson, M, Popovic, V, Ragnarsson, O, Rasmussen, Å K, Reisz, Z, Saeger, W, Schalin-Jäntti, C, Scheie, D, Terreni, M R, Tynninen, O, Whitelaw, B, Burman, P & Casar-Borota, O 2024, ' Genome-wide methylation profiling differentiates benign from aggressive and metastatic pituitary neuroendocrine tumors ', Acta Neuropathologica, vol. 148, no. 1, 68 . https://doi.org/10.1007/s00401-024-02836-5
Jotanovic, J, Boldt, H B, Burton, M, Andersen, M S, Bengtsson, D, Bontell, T O, Ekman, B, Engström, B E, Feldt-Rasmussen, U, Heck, A, Jakovcevic, A, Jørgensen, J O L, Kraljevic, I, Kunicki, J, Lindsay, J R, Losa, M, Loughrey, P B, Maiter, D, Maksymowicz, M, Manojlovic-Gacic, E, Pahnke, J, Petersenn, S, Petersson, M, Popovic, V, Ragnarsson, O, Rasmussen, Å K, Reisz, Z, Saeger, W, Schalin-Jäntti, C, Scheie, D, Terreni, M R, Tynninen, O, Whitelaw, B, Burman, P & Casar-Borota, O 2024, 'Genome-wide methylation profiling differentiates benign from aggressive and metastatic pituitary neuroendocrine tumors', Acta Neuropathologica, vol. 148, no. 1, 68. https://doi.org/10.1007/s00401-024-02836-5Subject Terms: Male, 0301 basic medicine, Medizin, Aggressive pituitary tumor, Cohort Studies, name=SDG 3 - Good Health and Well-being, 0303 health sciences, Cushing's Disease, Middle Aged, DNA Methylation/genetics [MeSH], Female [MeSH], Aged [MeSH], Adult [MeSH], DNA Copy Number Variations/genetics [MeSH], Humans [MeSH], Methylation analysis, Pituitary Neoplasms/pathology [MeSH], Middle Aged [MeSH], Pituitary Neoplasms/genetics [MeSH], Cohort Studies [MeSH], Pituitary neuroendocrine tumor, Pituitary adenoma, Genome-Wide Association Study/methods [MeSH], Male [MeSH], Pituitary carcinoma, Neuroendocrine Tumors/pathology [MeSH], Original Paper, Young Adult [MeSH], Neuroendocrine Tumors/genetics [MeSH], Diabetes and Metabolism, Neuroendocrine Tumors, name=General Medicine, name=Endocrinology, Diabetes and Metabolism, Female, Adult, DNA Copy Number Variations, Pituitary Adenoma, name=Oncology, Methylation, Young Adult, 03 medical and health sciences, Humans, Prolactinoma, Pituitary Neoplasms, Aged, Pituitary Carcinoma, Cancer och onkologi, Neurosciences, DNA Methylation, Aggressive pituitary tumour, Cancer and Oncology, Acromegaly, Pituitary Neuroendocrine Tumour, name=Endocrinology, Metastatic Pituitary Neuroendocrine Tumour, Genome-Wide Association Study
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/39580368
http://hdl.handle.net/10138/588701
https://pure.qub.ac.uk/en/publications/87abb879-e512-479c-a3df-f98f993fe102
https://curis.ku.dk/ws/files/413623722/s00401_024_02836_5.pdf
https://portal.findresearcher.sdu.dk/da/publications/07b31424-f801-4bb8-a167-331d6cedae21
https://doi.org/10.1007/s00401-024-02836-5
https://repository.publisso.de/resource/frl:6498191
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-547538
http://www.scopus.com/inward/record.url?scp=85209875877&partnerID=8YFLogxK
https://pure.au.dk/portal/en/publications/05c16c7d-2091-4dc5-b3c6-f7795d8e0a29
https://doi.org/10.1007/s00401-024-02836-5
https://pmc.ncbi.nlm.nih.gov/articles/PMC11585505/
https://doi.org/10.1007/s00401-024-02836-5
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85209875877
https://www.ncbi.nlm.nih.gov/pubmed/39580368 -
9
Authors: et al.
Contributors: et al.
Source: Acta Neuropathol Commun
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-13 (2024)Subject Terms: Male, Adult, 0301 basic medicine, DNA Copy Number Variations, Cohort Studies, Cell-free DNA, Young Adult, 03 medical and health sciences, Biomarkers, Tumor, Humans, RC346-429, Aged, Aged, 80 and over, 0303 health sciences, Liquid biopsy, Whole Genome Sequencing, Brain Neoplasms, Research, Female [MeSH], Aged, 80 and over [MeSH], Whole Genome Sequencing [MeSH], Aged [MeSH], Brain Neoplasms/genetics [MeSH], Adult [MeSH], DNA Copy Number Variations/genetics [MeSH], Humans [MeSH], Cell-Free Nucleic Acids/cerebrospinal fluid [MeSH], Cerebrospinal fluid, Middle Aged [MeSH], Cohort Studies [MeSH], Male [MeSH], Brain tumor, Biomarkers, Tumor/genetics [MeSH], Young Adult [MeSH], Brain Neoplasms/diagnosis [MeSH], Next-generation sequencing, Brain Neoplasms/cerebrospinal fluid [MeSH], Biomarkers, Tumor/cerebrospinal fluid [MeSH], Cell-Free Nucleic Acids/genetics [MeSH], Middle Aged, Female, Neurology. Diseases of the nervous system, Cell-Free Nucleic Acids
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10
Authors: et al.
Contributors: et al.
Source: Nat Commun
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Testicular Cancer Genomics England Clinical Interpretation Partnership Consortium, Genomics England Research Consortium, Ní Leathlobhair, M, Frangou, A, Kinnersley, B, Cornish, A J, Chubb, D, Lakatos, E, Arumugam, P, Gruber, A J, Law, P, Tapinos, A, Jakobsdottir, G M, Peneva, I, Sahli, A, Smyth, E M, Ball, R Y, Sylva, R, Benes, K, Stark, D, Young, R J, Lee, A T J, Wolverson, V, Houlston, R S, Sosinsky, A, Protheroe, A, Murray, M J, Wedge, D C & Verrill, C 2024, 'Genomic landscape of adult testicular germ cell tumours in the 100,000 Genomes Project', Nature Communications, vol. 15, no. 1, 9247. https://doi.org/10.1038/s41467-024-53193-6Subject Terms: Male, Adult, DNA Copy Number Variations, Science, DNA Copy Number Variations/genetics, Seminoma/genetics, Article, Neoplasms, Germ Cell and Embryonal/genetics, Testicular Neoplasms, Neoplasms, Germ Cell and Embryonal/genetics, Humans, Testicular Neoplasms/genetics, Genome, Whole Genome Sequencing, Genome, Human, Genomics, Neoplasms, Germ Cell and Embryonal, Genomics/methods, Seminoma, Mutation, Germ Cell and Embryonal, Human
File Description: application/pdf; application/zip; text/xml; Electronic
Access URL: https://pubmed.ncbi.nlm.nih.gov/39461959
https://doaj.org/article/3166ff5b046047609d385f398ae3f157
https://research.manchester.ac.uk/en/publications/8e36aa46-93c2-4b4a-a44c-4e8af55488c5
https://doi.org/10.1038/s41467-024-53193-6
https://ora.ox.ac.uk/objects/uuid:9fa30b1a-e69e-4a7c-a3ad-1c27a86ad4e5
https://doi.org/10.1038/s41467-024-53193-6
https://www.repository.cam.ac.uk/handle/1810/374471
https://doi.org/10.1038/s41467-024-53193-6
https://doi.org/10.17863/cam.112532 -
11
Authors: et al.
Contributors: et al.
Source: Carcinogenesis. 44:404-410
Subject Terms: Risk, Cancer Research, China, Lung Neoplasms, Retroelements, DNA Copy Number Variations, Dna methylation, DNA Copy Number Variations/genetics, Lung Neoplasms/chemically induced, SDG 3 - Good Health and Well-being, 11. Sustainability, Taverne, Journal Article, Leukocytes, Polycyclic aromatic-hydrocarbons, Humans, Polycyclic Aromatic Hydrocarbons, Air Pollution, Indoor/analysis, China/epidemiology, Nitrogen-dioxide, Xuan-wei, Burning solid fuels, Research Support, Non-U.S. Gov't, Polycyclic Aromatic Hydrocarbons/toxicity, Repeats, Research Support, N.I.H., Intramural, 3. Good health, Indoor air-pollution, Coal, 13. Climate action, Air Pollution, Indoor, Coal/adverse effects, Female, Retroelements/genetics, Lung-cancer
File Description: application/pdf
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12
Authors: et al.
Source: Hum Genomics
Human Genomics, Vol 18, Iss 1, Pp 1-10 (2024)Subject Terms: Male, de novo, DNA Copy Number Variations, Global developmental delay, Saudi Arabia, Chromosome Disorders, QH426-470, Dandy-walker spectrum, Microcephaly/pathology [MeSH], Recurrent proximal chromosome 16p11.2 microdeletion syndrome, Chromosome Disorders/pathology [MeSH], Optic atrophy, DNA Copy Number Variations/genetics [MeSH], Chromosomes, Human, Pair 16/genetics [MeSH], Intellectual Disability/pathology [MeSH], Dandy-Walker Syndrome/pathology [MeSH], Male [MeSH], Microcephaly/complications [MeSH], Dandy-Walker Syndrome/complications [MeSH], Chromosome Deletion [MeSH], Phenotype [MeSH], Cognitive impairment, Child [MeSH], Dandy-Walker Syndrome/genetics [MeSH], Female [MeSH], Humans [MeSH], Intellectual Disability/genetics [MeSH], Autistic Disorder [MeSH], Myoclonic epilepsy, Microcephaly/genetics [MeSH], Research, Chromosome Disorders/genetics [MeSH], Microcephaly, Saudi Arabia [MeSH], Child, Preschool [MeSH], Intellectual Disability, Genetics, Humans, Autistic Disorder, Child, Phenotype, Child, Preschool, Medicine, Female, Chromosome Deletion, Dandy-Walker Syndrome, Chromosomes, Human, Pair 16
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13
Authors: et al.
Source: Nat Hum Behav
Nature human behaviour, vol. 7, no. 6, pp. 1001-1017
Nature Human Behaviour, vol 7, iss 6Subject Terms: Humans, DNA Copy Number Variations/genetics, Brain/diagnostic imaging, DNA Copy Number Variations, Brain, Article
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/36864136
https://cris.maastrichtuniversity.nl/en/publications/d8f0658f-09e3-4739-aaa9-b6a6714aef2a
https://doi.org/10.1038/s41562-023-01541-9
https://serval.unil.ch/resource/serval:BIB_DDB4A3FF4DEE.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_DDB4A3FF4DEE6
https://serval.unil.ch/notice/serval:BIB_DDB4A3FF4DEE
https://escholarship.org/uc/item/6z87n7pk
https://escholarship.org/content/qt6z87n7pk/qt6z87n7pk.pdf -
14
Authors: et al.
Contributors: et al.
Source: Brazilian Journal of Otorhinolaryngology, Vol 89, Iss 2, Pp 279-284 (2023)
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Brazilian Journal of Otorhinolaryngology, Volume: 89, Issue: 2, Pages: 279-284, Published: 08 MAY 2023Subject Terms: DNA copy number variations, 0301 basic medicine, Cancer Research, Edema/complications, DNA Copy Number Variations, MicroRNA Regulation in Cancer and Development, Laryngeal edema, Gene Expression, Role of Long Noncoding RNAs in Cancer and Development, DNA Copy Number Variations/genetics, 03 medical and health sciences, Neoplasms, Biochemistry, Genetics and Molecular Biology, Genomic medicine, Genetics, Humans, Edema, Neoplasms/complications, Biogenesis and Functions of Circular RNAs, Molecular Biology, Biology, Internal medicine, Comparative Genomic Hybridization, 0303 health sciences, Laryngeal Edema/complications, Life Sciences, Microarray analysis, DNA, Laryngeal Edema, Preneoplastic condition, 3. Good health, Otorhinolaryngology, RF1-547, FOS: Biological sciences, Medicine
File Description: text/html
Access URL: https://pubmed.ncbi.nlm.nih.gov/36243603
https://doaj.org/article/acf42c79c4b14177a355487f10a02ee7
https://portal.findresearcher.sdu.dk/da/publications/bf0bd22d-b002-41f2-a7c5-7b7dea771b27
https://doi.org/10.1016/j.bjorl.2022.09.002
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942023000200279&lng=en&tlng=en -
15
Authors: et al.
Contributors: et al.
Source: medRxiv
Nature neuroscience
48 Seiten (2024). doi:10.1101/2023.02.22.23286310Subject Terms: Male, 0301 basic medicine, genetic risk factors, epilepsy, DNA Copy Number Variations, Neuroscience & Behavior, DNA Copy Number Variations / genetics, Epilepsy / genetics, Exome Sequencing, Polymorphism, Single Nucleotide / genetics, Risk Factors, Yaşam Bilimleri (Life), Genel Sinirbilim, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Risk Factors, Yaşam Bilimleri, Exome Sequencing, Humans, Life Sciences (Life), Genetic Predisposition to Disease, Exome, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], 0303 health sciences, Epilepsy, Temel Bilimler, General Neuroscience, exome sequencing, epilepsy, genetic risk, Neurosciences, Life Sciences, Sinir Bilimi, 3. Good health, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Human medicine, Natural Sciences, Sinirbilim Ve Davranış
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/36865150
https://pubmed.ncbi.nlm.nih.gov/39363051
https://research.vu.nl/en/publications/166b84b6-3874-40c8-a76c-91ef43ca8ed0
https://doi.org/10.1038/s41593-024-01747-8
https://hdl.handle.net/1871.1/166b84b6-3874-40c8-a76c-91ef43ca8ed0
https://avesis.kocaeli.edu.tr/publication/details/911d6681-44bb-4e7e-aabc-526de8335bac/oai
https://resolver.sub.uni-goettingen.de/purl?gro-2/147974
https://hdl.handle.net/10067/2121680151162165141
https://repository.uantwerpen.be/docstore/d:irua:8824
https://hal.sorbonne-universite.fr/hal-04832326v1
https://doi.org/10.1038/s41593-024-01747-8
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85205532641&origin=inward
https://hdl.handle.net/11424/298114
https://publications.rwth-aachen.de/record/1007717 -
16
Authors: et al.
Contributors: et al.
Source: In Vivo. 37:862-867
Subject Terms: Proto-Oncogene Proteins B-raf, Skin Neoplasms, DNA Copy Number Variations, Skin Neoplasms* / genetics, East Asian People, Western population, Proto-Oncogene Proteins B-raf / genetics, genetic features, 3. Good health, Melanoma* / genetics, Melanoma, Cutaneous Malignant, DNA Copy Number Variations / genetics, Humans, Korean population, Cutaneous malignant melanoma, Melanoma, Retrospective Studies
Access URL: https://pubmed.ncbi.nlm.nih.gov/36881068
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17
Authors: et al.
Contributors: et al.
Source: Genes (Basel)
Subject Terms: Preimplantation Diagnosis/methods, DNA Copy Number Variations, Blastocyst/metabolism, Haplotypes/genetics, DNA Copy Number Variations/genetics, Aneuploidy, Polymorphism, Single Nucleotide, Article, Meiosis, Blastocyst, Meiosis/genetics, Haplotypes, Gene Frequency, Pregnancy, Humans, Female, pregnancy, Genetic Testing, Genetic Testing/methods, Preimplantation Diagnosis
Access URL: https://pubmed.ncbi.nlm.nih.gov/40004444
https://biblio.vub.ac.be/vubir/(f98165b9-5d02-45a2-9c3e-8d0db0380258).html -
18
Authors: et al.
Contributors: et al.
Source: Nature Neuroscience, 27 (10), 1864 - 1879 (2024-10)
Subject Terms: Humans, DNA Copy Number Variations/genetics, Female, Male, Polymorphism, Single Nucleotide/genetics, Risk Factors, Epilepsy/genetics, Genetic Predisposition to Disease/genetics, Exome Sequencing, Exome/genetics, Life sciences, Genetics & genetic processes, Human health sciences, Neurology, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Neurologie
Relation: https://www.nature.com/articles/s41593-024-01747-8.pdf; FNR16394868 - Epileptogenesis Of Genetic Epilepsies, 2021 (01/10/2021-.) - Alexander Skupin; urn:issn:1097-6256; urn:issn:1546-1726; https://orbilu.uni.lu/handle/10993/62172; info:hdl:10993/62172; info:pmid:39363051
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19
Authors: et al.
Contributors: et al.
Source: Scientific reports, vol. 14, no. 1, pp. 7694
Subject Terms: Humans, Genome-Wide Association Study, Proteome/genetics, Estonia, Polymorphism, Single Nucleotide, Quantitative Trait Loci/genetics, Blood Proteins/genetics, DNA Copy Number Variations/genetics
File Description: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/38565889; info:eu-repo/semantics/altIdentifier/eissn/2045-2322; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_2ED69D7E6C4B3; https://serval.unil.ch/notice/serval:BIB_2ED69D7E6C4B; https://serval.unil.ch/resource/serval:BIB_2ED69D7E6C4B.P001/REF.pdf
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Authors: et al.
Contributors: et al.
Source: Hum Genomics
Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
Human Genomics, 17, 1, pp. 39
Human genomics
Yaldiz, B, Kucuk, E, Hampstead, J, Hofste, T, Pfundt, R, Corominas Galbany, J, Rinne, T, Yntema, H G, Hoischen, A, Nelen, M, Gilissen, C, Solve-RD consortium, Riess, O, Haack, T B, Graessner, H, Zurek, B, Ellwanger, K, Ossowski, S, Demidov, G, Sturm, M, Schulze-Hentrich, J M, Schüle, R, Xu, J, Kessler, C, Wayand, M, Synofzik, M, Wilke, C, Traschütz, A, Schöls, L, Hengel, H, Lerche, H, Kegele, J, Heutink, P, Brunner, H, Scheffer, H, Hoogerbrugge, N, Hoischen, A, Hoen, P A C, Vissers, L E L M, Gilissen, C, Steyaert, W, Sablauskas, K, de Voer, R M, Kamsteeg, E J, van de Warrenburg, B, van Os, N, te Paske, I, Janssen, E, Clayton-Smith, J, Banka, S, Jackson, A & et al. 2023, 'Twist exome capture allows for lower average sequence coverage in clinical exome sequencing', Human Genomics, vol. 17, no. 1, 39. https://doi.org/10.1186/s40246-023-00485-5
HUMAN GENOMICS
Human GenomicsSubject Terms: Exome/genetics, Exome sequencing, Radboudumc 4: lnfectious Diseases and Global Health Internal Medicine, Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], DNA Copy Number Variations, Radboud University Medical Center, DNA Copy Number Variations/genetics, Uniformity of coverage, QH426-470, Genome sequencing, Radboudumc 6: Metabolic Disorders Human Genetics, DNA Copy Number Variations -- genetics, Human -- genetics, Drug Discovery, Exome Sequencing, Medicine and Health Sciences, Genetics, Humans, Exome, High-Throughput Nucleotide Sequencing -- methods, Molecular Biology, Multidisciplinary, general & others [D99] [Human health sciences], High-Throughput Nucleotide Sequencing/methods, Genome, Human/genetics, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Base Sequence, Genome, Human, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Research, Exome -- genetics, Radboudumc 0: Other Research Human Genetics, Radboudumc 4: lnfectious Diseases and Global Health Human Genetics, High-Throughput Nucleotide Sequencing, Sciences bio-médicales et agricoles, Genome, Human/genetics, Molecular Medicine, Medicine, Genetics & genetic processes [F10] [Life sciences], Human medicine, Génétique & processus génétiques [F10] [Sciences du vivant], Exome sequencingGenome sequencingUniformity of coverage
File Description: application/pdf; ELETTRONICO; 1 full-text file(s): application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/37138343
https://doaj.org/article/e9e98a6b1dd24902a3e20ff89294d975
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/292527
https://repository.ubn.ru.nl//bitstream/handle/2066/292527/292527.pdf
https://hdl.handle.net/2066/292527
https://hdl.handle.net/10067/1988600151162165141
https://repository.uantwerpen.be/docstore/d:irua:19305
http://orbilu.uni.lu/handle/10993/55059
http://hdl.handle.net/1854/LU-01HFC7VW3TWS9Z2PHX8T24WF53
https://biblio.ugent.be/publication/01HFC7VW3TWS9Z2PHX8T24WF53
https://biblio.ugent.be/publication/01HFC7VW3TWS9Z2PHX8T24WF53/file/01HFV5C3EJ6BM02FF0TJ8N06P4
http://doi.org/10.1186/s40246-023-00485-5
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