Suchergebnisse - "Intellectual Disability diagnosis"
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1
Autoren: et al.
Quelle: Clin Genet
Clinical genetics, vol. 108, no. 2, pp. 146-155Schlagwörter: CDK13‐related disorder, CDK13, CDK13-related disorder, CHDFIDD, cyclin-dependent kinase, syndromic intellectual disability, CDK13, CDK13‐related disorder, CHDFIDD, cyclin‐dependent kinase, syndromic intellectual disability, Original Article, cyclin‐dependent kinase, Humans, Female, Male, Cyclin-Dependent Kinases/genetics, Phenotype, Child, Child, Preschool, Mutation, Intellectual Disability/genetics, Intellectual Disability/pathology, Intellectual Disability/diagnosis, Heart Defects, Congenital/genetics, Heart Defects, Congenital/pathology, Heart Defects, Congenital/diagnosis, Infant, Genetic Association Studies, Genetic Predisposition to Disease, Adolescent, Disease Management, CDC2 Protein Kinase
Dateibeschreibung: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39971730
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_BE20B996C2504
https://serval.unil.ch/resource/serval:BIB_BE20B996C250.P001/REF.pdf
https://serval.unil.ch/notice/serval:BIB_BE20B996C250
https://hdl.handle.net/10447/674423
https://hdl.handle.net/11573/1735314
https://doi.org/10.1111/cge.14726
https://hdl.handle.net/2318/2059652
https://doi.org/10.1111/cge.14726 -
2
Autoren: et al.
Quelle: Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
Schlagwörter: Originalien und Übersichten, Intellectual Disability/diagnosis [MeSH], Humans [MeSH], Delivery of Health Care [MeSH], Intellectual Disability/genetics [MeSH], Vorsorgeuntersuchungen, Treatment and support, Neoplasms/epidemiology [MeSH], Neoplasms/genetics [MeSH], Genetic syndromes, Oncology, Behandlungsbesonderheiten, Genetische Syndrome, Germany/epidemiology [MeSH], Intellectual Disability/epidemiology [MeSH], Onkologie, Mortalität, Mortality, Störungen der Intelligenzentwicklung, Life Expectancy [MeSH], Neoplasms/therapy [MeSH], Disorders of intellectual development, Prevalence [MeSH], Screening
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3
Autoren: et al.
Weitere Verfasser: et al.
Quelle: American Journal of Medical Genetics Part A. 194:9-16
Schlagwörter: Male, [SDV.GEN]Life Sciences [q-bio]/Genetics, Body Height/genetics, Intellectual Disability/diagnosis, Microcephaly/diagnosis, DYRK1A, [SDV.GEN] Life Sciences [q-bio]/Genetics, Syndrome, Body Height, 3. Good health, specific growth curves, Body Mass Index, Intellectual Disability, Microcephaly, Humans, Female, Growth Charts, Child, DYRK1A syndrome, DYRK1A gene
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4
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Eur J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M, Pagnamenta, A T, Race, S, Srivastava, S, Frazier, Z, Maiwald, R, Pergande, M, Milani, D, Rinelli, M, Levy, J, Krey, I, Fontana, P, Lonardo, F, Riley, S, Kretzer, J, Rankin, J, Reis, L M, Semina, E V, Reuter, M S, Scherer, S W, Iascone, M, Weis, D, Fagerberg, C R, Brasch-Andersen, C, Hansen, L K, Kuechler, A, Noble, N, Gardham, A, Tenney, J, Rathore, G, Beck-Woedl, S, Haack, T B, Pavlidou, D C, Atallah, I, Vodopiutz, J, Janecke, A R, Hsieh, T-C, Lesmann, H, Klinkhammer, H, Krawitz, P M, Lemke, J R, Jamra, R A, Nieto, M, Tümer, Z & Platzer, K 2023, ' CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology ', European journal of human genetics : EJHG, vol. 31, no. 11, pp. 1251-1260 . https://doi.org/10.1038/s41431-023-01445-2Schlagwörter: Adult, Homeodomain Proteins, Repressor Proteins/genetics, Heterozygote, Epilepsy, Neurodevelopmental disorders, ICTS (Institute of Clinical and Translational Sciences), Medizin, Transcription Factors/genetics, Neurodevelopmental Disorders/genetics, Intellectual Disability/genetics, Article, 3. Good health, Repressor Proteins, Mice, Phenotype, Neurodevelopmental Disorders, Seizures, Intellectual Disability, Medicine and Health Sciences, Animals, Humans, Homeodomain Proteins/genetics, Intellectual Disability/diagnosis, Neurodevelopmental Disorders/pathology, Transcription Factors/metabolism, Transcription Factors
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/37644171
http://hdl.handle.net/10261/341970
https://serval.unil.ch/notice/serval:BIB_483D54F3B66F
https://serval.unil.ch/resource/serval:BIB_483D54F3B66F.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_483D54F3B66F6
https://curis.ku.dk/ws/files/387700368/s41431_023_01445_2.pdf -
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Autoren: et al.
Weitere Verfasser: et al.
Quelle: J Med Genet
Journal of Medical Genetics, 60, 12, pp. 1224-1234Schlagwörter: Genetic Research, Radboud University Medical Center, Neuroimaging, Congenital, neonatal diseases and abnormalities, Signs and Symptoms, Intellectual Disability, Humans, Pathological Conditions, Abnormalities, Multiple, Repressor Proteins/genetics, Bone Diseases, Developmental, neuroimaging, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Multiple/diagnosis, Tooth Abnormalities, Developmental/diagnostic imaging, Intellectual Disability/diagnosis, genetic research, Facies, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Pathological Conditions, Signs and Symptoms, Patient Care, Radiology, neurodevelopmental disorder, 3. Good health, KBG syndrome, Repressor Proteins, Phenotypes, Hereditary, Tooth Abnormalities/diagnostic imaging, Phenotype, ANKRD11 haploinsufficiency, Bone Diseases, Abnormalities, and Neonatal Diseases and Abnormalities, Transcription Factors
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/37586838
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/299952
https://doi.org/10.1136/jmg-2023-109141
https://repository.ubn.ru.nl//bitstream/handle/2066/299952/299952.pdf
https://hdl.handle.net/2066/299952
https://portal.findresearcher.sdu.dk/da/publications/7d3c089e-d59c-49d7-aea3-705f49a98644
https://doi.org/10.1136/jmg-2023-109141
https://hdl.handle.net/11380/1339087
https://doi.org/10.1136/jmg-2023-109141
https://jmg.bmj.com/content/60/12/1224
https://hdl.handle.net/11568/1217531
https://doi.org/10.1136/jmg-2023-109141 -
6
Autoren: et al.
Quelle: AIDS Res Ther
AIDS Research and Therapy, Vol 21, Iss 1, Pp 1-4 (2024)Schlagwörter: Male, Public health, Acquired Immunodeficiency Syndrome, Intellectual disability, HIV, Case Report, HIV Infections, RC581-607, Middle Aged, Stigma, HIV Infections/complications [MeSH], Intellectual Disability/diagnosis [MeSH], Humans [MeSH], Sexual Health [MeSH], Middle Aged [MeSH], HIV Infections/diagnosis [MeSH], Sexuality, HIV testing, Early Detection of Cancer [MeSH], Male [MeSH], HIV Testing [MeSH], Acquired Immunodeficiency Syndrome [MeSH], 3. Good health, HIV Testing, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Humans, Immunologic diseases. Allergy, Sexual Health, Early Detection of Cancer
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Autoren: et al.
Schlagwörter: Intellectual Disability -- diagnosis, Self-help devices for people with disabilities -- Case studies, Social integration -- Case studies
Verfügbarkeit: https://www.um.edu.mt/library/oar/handle/123456789/134813
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Autoren: et al.
Quelle: JBI Evid Synth
JBI evidence synthesis, vol. 21, no. 1, pp. 254-263Schlagwörter: Adult, Pain, Humans, Intellectual Disability/complications, Intellectual Disability/diagnosis, Pain/diagnosis, Pain Measurement, Review Literature as Topic, Systematic Reviews as Topic, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, 0305 other medical science, 10. No inequality, Protocols
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/36000781
https://archive-ouverte.unige.ch/unige:165467
https://doi.org/10.11124/jbies-21-00434
https://serval.unil.ch/notice/serval:BIB_EFAB6C345AB6
https://serval.unil.ch/resource/serval:BIB_EFAB6C345AB6.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_EFAB6C345AB63 -
9
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Hum Mol Genet
Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F M, Aristidou, C, Tanteles, G A, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M K, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Atallah, I, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M A, Rizzo, C L, Bruttini, M, Mari, F, Ariani, F, Renieri, A & Pinto, A M 2022, 'Natural history of KBG syndrome in a large European cohort', Human Molecular Genetics, vol. 31, no. 24, pp. 4131-4142. https://doi.org/10.1093/hmg/ddac167
Human molecular genetics, Vol. 31, no.24, p. 4131-4142 (2022)
Human molecular genetics, vol. 31, no. 24, pp. 4131-4142Schlagwörter: 0301 basic medicine, Bone Diseases, Developmental, Comparative Genomic Hybridization, European People, 0303 health sciences, Tooth Abnormalities, ta1184, ta1182, Facies, Dwarfism, adolescent, adult, anus atresia, anxiety, arachnoid cyst, Article, attention deficit hyperactivity disorder, autism, body height, bone age, brachydactyly, brain malformation, child, cleft palate, clinical article, clinical feature, clinodactyly, cohort analysis, comorbidity, comparative genomic hybridization, congenital malformation, craniofacial malformation, cryptorchism, differential diagnosis, electroencephalography, epilepsy, European, feeding difficulty, female, fetus echography, frameshift mutation, funnel chest, head circumference, hearing impairment, heart atrium septum defect, heart ventricle septum defect, high throughput sequencing, human, hydrocele, hypodontia, infant, intellectual impairment, KBG syndrome, kyphosis, Lennox Gastaut syndrome, macrodontia, male, mental instability, microcephaly, muscle hypotonia, newborn, nose, nuclear magnetic resonance imaging, oligodontia, otitis media, perception deafness, periventricular heterotopia, phenotype, pigeon thorax, preschool child, prevalence, problem behavior, RNA splicing, school child, short stature, single nucleotide polymorphism, skeleton malformation, strabismus, syndrome, tooth malformation, 3. Good health, Repressor Proteins, 03 medical and health sciences, Phenotype, Pregnancy, Female, Humans, Tooth Abnormalities/genetics, Bone Diseases, Developmental/genetics, Abnormalities, Multiple/genetics, Abnormalities, Multiple/diagnosis, Intellectual Disability/genetics, Intellectual Disability/diagnosis, Repressor Proteins/genetics, Dwarfism/genetics, Intellectual Disability, Original Article, Abnormalities, Multiple, 10. No inequality, KBG syndrome,exome ,array-cgh
Dateibeschreibung: application/pdf; STAMPA
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/35861666
http://hdl.handle.net/11588/893575
https://research.vumc.nl/en/publications/121a121e-274d-4a92-a2c3-edb9e22f08bd
https://hdl.handle.net/10281/467122
https://doi.org/10.1093/hmg/ddac167
https://hdl.handle.net/2078.1/279090
https://academic.oup.com/hmg/article/31/24/4131/6647925
https://doi.org/10.1093/hmg/ddac167
https://hdl.handle.net/11365/1220800
https://serval.unil.ch/notice/serval:BIB_CD40BBEC41D3
https://serval.unil.ch/resource/serval:BIB_CD40BBEC41D3.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CD40BBEC41D30
http://urn.fi/urn:nbn:fi-fe2022102763568
https://academic.oup.com/hmg/article/31/24/4131/6647925?login=false
https://hdl.handle.net/11568/1158464
https://doi.org/10.1093/hmg/ddac167
https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg/ddac167/6647925
https://hdl.handle.net/11697/248965
https://doi.org/10.1093/hmg/ddac167 -
10
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Clin Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Clinical genetics
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, T B, Hammer, T B, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, M Y, Moudi, M, Müller, A J, Oostra, A J, Pletcher, B A, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, M S, Zech, M, Lerche, H, Radio, F C, Gomez-Puertas, P, Møller, R S & Tümer, Z 2022, ' Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder ', Clinical Genetics, vol. 102, no. 2, pp. 98-109 . https://doi.org/10.1111/cge.14165
CLINICAL GENETICSSchlagwörter: 0301 basic medicine, INTELLECTUAL DISABILITY, Intellectual disability, Seizures/complications, Hypotonia, HAPLOINSUFFICIENCY, Neurodevelopmental Disorders/genetics, Gene, 03 medical and health sciences, Neurodevelopmental disorder, Seizures, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Medicine and Health Sciences, Genetics, Humans, Missense mutation, Biology, neurodevelopmental disorder, 0303 health sciences, Movement Disorders/complications, Movement Disorders, MUTATIONS, DELETION, Intellectual Disability/diagnosis, Brain Development, Life Sciences, disorder, Original Articles, Standards and Guidelines for Genetic Variant Interpretation, GENE, ddc, Genomic Rearrangements and Copy Number Variations, ZNF142, language impairement, Phenotype, intellectual disability, Neurodevelopmental Disorders, FOS: Biological sciences, ONSET, epilepsy, Molecular Basis of Rett Syndrome and Related Disorders, Human medicine, movement disorder, movement, Transcription Factors
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/35616059
http://hdl.handle.net/10261/367869
https://hdl.handle.net/10067/1891320151162165141
https://repository.uantwerpen.be/docstore/d:irua:13112
https://curis.ku.dk/ws/files/314145844/Biallelic.pdf
https://discovery-pp.ucl.ac.uk/id/eprint/10149455/
http://hdl.handle.net/1854/LU-01GSSQW1W69EWCCTCCCZYHD0W2
http://doi.org/10.1111/cge.14165
https://biblio.ugent.be/publication/01GSSQW1W69EWCCTCCCZYHD0W2
https://biblio.ugent.be/publication/01GSSQW1W69EWCCTCCCZYHD0W2/file/01GSSQXC5BBGYR2SVX5MDTVEPM
https://mediatum.ub.tum.de/1834878 -
11
Autoren: et al.
Quelle: Bonardi, C M, Bayat, A, Madsen, C G, Hammer, T B, Reale, C, Gardella, E, Marjanovic, D, Beniczky, S, M⊘ller, R S & Rubboli, G 2022, 'Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome', Epileptic Disorders, vol. 24, no. 3, pp. 577-582. https://doi.org/10.1684/epd.2022.1423
Schlagwörter: Adult, Chromosomes, Human, Pair 20, Malformations of Cortical Development/diagnosis, Chromosome Disorders, Trisomy, trisomy 20p, Chromosomes, 03 medical and health sciences, Monosomy, 0302 clinical medicine, Intellectual Disability, Humans, Abnormalities, Multiple, bilateral perisylvian polymicrogyria, Pair 18, Epilepsy, Multiple/diagnosis, Intellectual Disability/diagnosis, congenital bilateral perisylvian syndrome, malformation of cortical development, monosomy 18p, Malformations of Cortical Development, Epilepsy/diagnosis, Abnormalities, Chromosome Deletion, Chromosomes, Human, Pair 18, Pair 20, Human
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/35770758
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Autoren: et al.
Quelle: Genes (Basel)
Schlagwörter: Whole Genome Sequencing, Autism Spectrum Disorder, Brief Report, Language Development Disorders / diagnosis, T-Box Domain Proteins / genetics, Autistic Disorder / diagnosis, Autistic Disorder / genetics, Pedigree, Phenotype, Autism Spectrum Disorder / genetics, Intellectual Disability, Humans, Female, Language Development Disorders, Autistic Disorder, Child, T-Box Domain Proteins, Intellectual Disability / genetics, Intellectual Disability / diagnosis, Language Development Disorders / genetics
Dateibeschreibung: application/pdf
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13
Autoren: et al.
Schlagwörter: Self-help devices for people with disabilities -- Case studies, Autism -- Case studies, Intellectual Disability -- diagnosis, Social integration -- Case studies, Delphi method -- Case studies
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Autoren: et al.
Schlagwörter: Self-help devices for people with disabilities -- Case studies, Social integration -- Case studies, Intellectual Disability -- diagnosis, Autism -- Case studies, Social networks -- Case studies
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15
Autoren: et al.
Quelle: Richardson, R, Baralle, D, Bennett, C, Briggs, T, Bijlsma, E K, Clayton-Smith, J, Constantinou, P, Foulds, N, Jarvis, J, Jewell, R, Johnson, D S, McEntagart, M, Parker, M J, Radley, J A, Robertson, L, Ruivenkamp, C, Rutten, J W, Tellez, J, Turnpenny, P D, Wilson, V, Wright, M & Balasubramanian, M 2022, 'Further delineation of phenotypic spectrum of SCN2A-related disorder', American Journal of Medical Genetics. Part A, vol. 188, no. 3, pp. 867-877. https://doi.org/10.1002/ajmg.a.62595
Schlagwörter: Male, NAV1.2 Voltage-Gated Sodium Channel, episodic ataxia, Autism Spectrum Disorder, Intellectual Disability/diagnosis, NAV1.2 Voltage-Gated Sodium Channel/genetics, autism spectrum disorder, Scn2a, developmental delay, Autism Spectrum Disorder/genetics, 03 medical and health sciences, Phenotype, 0302 clinical medicine, intellectual disability, Seizures, Intellectual Disability, Humans, Female, SCN2A, Seizures/genetics, Child
Dateibeschreibung: application/pdf; text
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Autoren: et al.
Weitere Verfasser: et al.
Quelle: Developmental Medicine & Child Neurology. 64:509-517
Schlagwörter: Male, 0301 basic medicine, Adolescent, Pédiatrie, Microcephaly/diagnosis, Cell Cycle Proteins, Nerve Tissue Proteins, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Pediatrics, Sciences de la santé humaine, Microcephaly/genetics, Young Adult, 03 medical and health sciences, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, Developmental Neuroscience, Neurologie, Intellectual Disability, Nerve Tissue Proteins/genetics, Humans, Human health sciences, Child, Cell Cycle Proteins/genetics, 0303 health sciences, Intellectual Disability/diagnosis, [SDV.BDD.EO] Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, Intellectual Disability/genetics, Neurology, WDR62 protein, human, Child, Preschool, Pediatrics, Perinatology and Child Health, Microcephaly, Ataxia, Female, Neurology (clinical), [SDV.NEU.SC] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/35726608
https://onlinelibrary.wiley.com/doi/10.1111/dmcn.15060?af=R
https://hdl.handle.net/2268/300076
https://doi.org/10.1111/dmcn.15060
https://portal.findresearcher.sdu.dk/da/publications/74bee0eb-39a3-43ad-9a22-1a0cf1529e64
https://doi.org/10.1111/dmcn.15060
https://hal.science/hal-03357164v1/document
https://hal.science/hal-03357164v1
https://doi.org/10.1111/dmcn.15060 -
17
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Journal of Applied Research in Intellectual Disabilities. 35:123-133
Schlagwörter: Adult, Intellectual Disability/diagnosis, Middle Aged, 3. Good health, Europe, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Hearing, Intellectual Disability, Quality of Life, young adult, Humans, Quality Of Life, Retrospective Studies
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/34197010
https://www.ncbi.nlm.nih.gov/pubmed/34197010
https://research.rug.nl/en/publications/outcome-of-ten-years-of-ear-and-hearing-screening-in-people-with-
https://biblio.ugent.be/publication/8712418
https://research.rug.nl/en/publications/outcome-of-10years-of-ear-and-hearing-screening-in-people-with-in
https://onlinelibrary.wiley.com/doi/10.1111/jar.12923?af=R
https://www.narcis.nl/publication/RecordID/oai%3Apure.rug.nl%3Apublications%2Ffc1c2d89-52ad-4987-a828-3f79ac5b79ae
https://biblio.vub.ac.be/vubir/(006988bd-1fab-4e1b-9d46-7192d821b576).html -
18
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Genet Med
Schlagwörter: Exome sequencing, 0301 basic medicine, Developmental Disabilities, Intellectual disability, Whole Exome Sequencing, Article, Muscle hypotonia, 03 medical and health sciences, Research Support, N.I.H., Extramural, Seizures, Intellectual Disability, Exome Sequencing, Muscle Hypotonia/diagnosis, Journal Article, Humans, Child, 0303 health sciences, Research Support, Non-U.S. Gov't, Neurodevelopmental disorders, Intellectual Disability/diagnosis, Muscle Hypotonia/diagnosis/genetics, Neurodevelopmental Disorders/diagnosis/genetics, 3. Good health, Developmental disabilities, Neurodevelopmental Disorders/diagnosis, Neurodevelopmental Disorders, Muscle Hypotonia, Intellectual Disability/diagnosis/genetics, Seizures/genetics, Developmental Disabilities/genetics
Dateibeschreibung: application/pdf
Zugangs-URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107131
https://pubmed.ncbi.nlm.nih.gov/33473207
https://experts.umn.edu/en/publications/variants-in-gnai1-cause-a-syndrome-associated-with-variable-featu
https://www.nature.com/articles/s41436-020-01076-8.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107131
https://www.nature.com/articles/s41436-020-01076-8
https://eprints.ncl.ac.uk/272921
https://pubmed.ncbi.nlm.nih.gov/33473207/
https://dspace.library.uu.nl/handle/1874/457771 -
19
Autoren: et al.
Weitere Verfasser: et al.
Quelle: ISSN: 1098-3600 ; Genetics in medicine, vol. 25, no. 4 (2023) 100018.
Schlagwörter: ClinVar, Developmental disorder, Exome reanalysis, Rare diseases, Humans, Exome Sequencing, Intellectual Disability / diagnosis, Intellectual Disability / genetics, Alleles, Genotype
Relation: info:eu-repo/semantics/altIdentifier/pmid/36681873; unige:188988
Verfügbarkeit: https://archive-ouverte.unige.ch/unige:188988
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Autoren: et al.
Schlagwörter: Abortion, Eugenic, Agenesis of Corpus Callosum/complications, Agenesis of Corpus Callosum/diagnosis, Agenesis of Corpus Callosum/genetics, Child, Preschool, Developmental Disabilities/complications, Developmental Disabilities/genetics, Facial Asymmetry/complications, Facial Asymmetry/genetics, Family, Female, Fetal Diseases/diagnosis, Fetal Diseases/genetics, Heterozygote, Humans, Intellectual Disability/complications, Intellectual Disability/diagnosis, Intellectual Disability/genetics, Jumonji Domain-Containing Histone Demethylases/genetics, Mutation, Missense, Nuclear Proteins/genetics, Pedigree, Pregnancy, Repressor Proteins/genetics, Siblings, Switzerland, KDM5B
Dateibeschreibung: application/pdf
Relation: Genes; https://iris.unil.ch/handle/iris/82387; serval:BIB_14ADEBC9C07B; 000699848500001
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