Search Results - "Humangenetik."

Die Nekropole Potzneusiedl (Burgenland): Die interdisziplinäre Auswertung von Bestattungen des 1. bis 3. Jahrhunderts n. Chr. im Kontaktbereich nord- und süddanubischer Traditionen

Authors: Formato, Lucia Clara

Source: PUB 1027_Formato_Nekropole Potzneusiedl.pdf

Subject Terms: Humangenetik, norisch-pannonische Tracht, Körpergräber, Biological anthropology, Province of Pannonia, ÖFOS 2012 -- NATURAL SCIENCES (1) -- Other Natural Sciences (107) -- Other Natural Sciences (1070) -- Archaeozoology (107009), Biologische Anthropologie, ÖFOS 2012 -- HUMANITIES (6) -- History, Archaeology (601) -- History, Archaeology (6010) -- Archaeology (601003), ÖFOS 2012 -- NATURWISSENSCHAFTEN (1) -- Biologie (106) -- Biologie (1060) -- Biologische Anthropologie (106056), Archäozoologie, ÖFOS 2012 -- HUMANMEDIZIN, GESUNDHEITSWISSENSCHAFTEN (3) -- Medizinisch-theoretische Wissenschaften, Pharmazie (301) -- Medizinische Biochemie, Humangenetik (3013) -- Humangenetik (301301), Thema Klassifizierung -- Geschichte und Archäologie (N) -- Archäologie (NK) -- Archäologie einer Periode / Region (NKD), Human genetics, burial customs, Provinz Pannonien, Archaeozoology, Archaeology by period / region, Archäologie, ÖFOS 2012 -- NATURWISSENSCHAFTEN (1) -- Andere Naturwissenschaften (107) -- Andere Naturwissenschaften (1070) -- Archäozoologie (107009), Frühe Kaiserzeit, Brandgräber, ÖFOS 2012 -- HUMAN MEDICINE, HEALTH SCIENCES (3) -- Medical-Theoretical Sciences, Pharmacy (301) -- Medical Biochemistry, Human Genetics (3013) -- Human genetics (301301), continuity, Bestattungssitten, ÖFOS 2012 -- GEISTESWISSENSCHAFTEN (6) -- Geschichte, Archäologie (601) -- Geschichte, Archäologie (6010) -- Archäologie (601003), Archaeology, ÖFOS 2012 -- NATURAL SCIENCES (1) -- Biology (106) -- Biology (1060) -- Biological anthropology (106056), Thema Subject Codes -- History and Archaeology (N) -- Archaeology (NK) -- Archaeology by period / region (NKD), Archäologie einer Periode / Region, Kontinuität, cremation burials, Early Imperial Period, inhumation burials, Noric-Pannonian costume

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Access URL: https://library.oapen.org/handle/20.500.12657/101631

HLA diversity and signatures of selection in the Maniq, a nomadic hunter-gatherer population in Southern Thailand

Authors: Schaschl, Helmut Herzog, Tobias Oberreiter, Victoria et al.

Source: Immunogenetics

Subject Terms: Maniq people, Genotype, 106013 Genetics, Population, 301301 Humangenetik, Asian People/genetics, 301301 Human genetics, Linkage Disequilibrium, Article, Evolutionsbiologi, Genetic, Gene Frequency, SDG 3 - Good Health and Well-being, Genetics, Immunogenetics, Humans, Polymorphism, 106013 Genetik, Selection, Alleles, Evolutionary Biology, Genetic Variation, Genetics and Genomics, Genetik och genomik, HLA Antigens/genetics, Single Nucleotide, Thailand, HLA diversity, Positive selection, Balancing selection, SDG 3 – Gesundheit und Wohlergehen, Hunter-gatherer

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Access URL: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-561484

Die Nekropole Potzneusiedl (Burgenland)

Authors: Formato, Lucia Clara

Subject Terms: Archaeology, ÖFOS 2012 -- HUMANITIES (6) -- History, Archaeology (601) -- History, Archaeology (6010) -- Archaeology (601003), Biological anthropology, ÖFOS 2012 -- NATURAL SCIENCES (1) -- Biology (106) -- Biology (1060) -- Biological anthropology (106056), Archaeozoology, ÖFOS 2012 -- NATURAL SCIENCES (1) -- Other Natural Sciences (107) -- Other Natural Sciences (1070) -- Archaeozoology (107009), Human genetics, ÖFOS 2012 -- HUMAN MEDICINE, HEALTH SCIENCES (3) -- Medical-Theoretical Sciences, Pharmacy (301) -- Medical Biochemistry, Human Genetics (3013) -- Human genetics (301301), Archaeology by period / region, Thema Subject Codes -- History and Archaeology (N) -- Archaeology (NK) -- Archaeology by period / region (NKD), Province of Pannonia, Early Imperial Period, inhumation burials, cremation burials, Noric-Pannonian costume, continuity, burial customs, Archäologie, ÖFOS 2012 -- GEISTESWISSENSCHAFTEN (6) -- Geschichte, Archäologie (601) -- Geschichte, Archäologie (6010) -- Archäologie (601003), Biologische Anthropologie, ÖFOS 2012 -- NATURWISSENSCHAFTEN (1) -- Biologie (106) -- Biologie (1060) -- Biologische Anthropologie (106056), Archäozoologie, ÖFOS 2012 -- NATURWISSENSCHAFTEN (1) -- Andere Naturwissenschaften (107) -- Andere Naturwissenschaften (1070) -- Archäozoologie (107009), Humangenetik, ÖFOS 2012 -- HUMANMEDIZIN, GESUNDHEITSWISSENSCHAFTEN (3) -- Medizinisch-theoretische Wissenschaften, Pharmazie (301) -- Medizinische Biochemie, Humangenetik (3013) -- Humangenetik (301301), Archäologie einer Periode / Region, Thema Klassifizierung -- Geschichte und Archäologie (N) -- Archäologie (NK) -- Archäologie einer Periode / Region (NKD), Provinz Pannonien, Frühe Kaiserzeit, Körpergräber, Brandgräber, norisch-pannonische Tracht, Kontinuität, Bestattungssitten

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Access URL: https://library.oapen.org/handle/20.500.12657/101631

Ancient human DNA recovered from a Palaeolithic pendant

Authors: Essel, Elena Zavala, Elena Schulz-Kornas, Ellen et al.

Contributors: Essel, Elena Zavala, Elena Schulz-Kornas, Ellen et al.

Source: Nature

Subject Terms: [SHS.ARCHEO] Humanities and Social Sciences/Archaeology and Prehistory, [SHS.ARCHEO]Humanities and Social Sciences/Archaeology and Prehistory, Deer, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Infectious Disease, 301301 Humangenetik, 301301 Human genetics, DNA, Mitochondrial, Article, Bone and Bones, [SHS.ANTHRO-BIO] Humanities and Social Sciences/Biological anthropology, Russia, Siberia, Caves, Archaeology, Ecology,Evolution & Ethology, Animals, Humans, Female, DNA, Ancient, Tooth, Genetics & Genomics, History, Ancient

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Access URL: https://pubmed.ncbi.nlm.nih.gov/37138083
http://hdl.handle.net/21.11116/0000-000D-125A-A
http://hdl.handle.net/21.11116/0000-000D-125C-8
https://hdl.handle.net/1887/3640535

Masculinities Ageing between Cultures: Relationality, Kinship and Care in Dialogue

Contributors: Maierhofer, Roberta Hartung, Heike Schmitt-Kilb, Christian

Source: Aging Studies ISBN: 9783837669060

Subject Terms: ÖFOS 2012 -- GEISTESWISSENSCHAFTEN (6) -- Sprach- und Literaturwissenschaften (602) -- Sprach- und Literaturwissenschaften (6020) -- Allgemeine Literaturwissenschaft (602003), Alternsforschung, Thema Klassifizierung -- Biographie, Literatur und Literaturwissenschaft (D) -- Literatur: Geschichte und Kritik (DS), ÖFOS 2012 -- SOZIALWISSENSCHAFTEN (5) -- Soziologie (504) -- Soziologie (5040) -- Gender Studies (504014), Nachschlagewerke, Informationswissenschaften und Interdisziplinäre Themen, Care, Thema Klassifizierung -- Biographie, Literatur und Literaturwissenschaft (D), Thema Subject Codes -- Biography, Literature and Literary studies (D), Gender Studies, Literature: history and criticism, Relationality, 5. Gender equality, ÖFOS 2012 -- HUMANITIES (6) -- Linguistics and Literature (602) -- Linguistics and Literature (6020) -- General literature studies (602003), Sorge, Thema Klassifizierung -- Biographie, Literatur und Literaturwissenschaft (D) -- Literatur: Geschichte und Kritik (DS) -- Vergleichende Literaturwissenschaft (DSM), Reference, Information and Interdisciplinary subjects, 10. No inequality, Allgemeine Literaturwissenschaft, ÖFOS 2012 -- SOCIAL SCIENCES (5) -- Sociology (504) -- Sociology (5040) -- Gender studies (504014), Thema Subject Codes -- Reference, Information and Interdisciplinary subjects (G), Vergleichende Literaturwissenschaft, Thema Klassifizierung -- Nachschlagewerke, Informationswissenschaften und Interdisziplinäre Themen (G), ÖFOS 2012 -- HUMANMEDIZIN, GESUNDHEITSWISSENSCHAFTEN (3) -- Medizinisch-theoretische Wissenschaften, Pharmazie (301) -- Medizinische Biochemie, Humangenetik (3013) -- Alternsforschung (301308), Verwandtschaft, 4. Education, Thema Subject Codes -- Biography, Literature and Literary studies (D) -- Literature: history and criticism (DS), General literature studies, Biographie, Literatur und Literaturwissenschaft, Ageing research, Age Studies, Literatur: Geschichte und Kritik, Relationalität, Kinship, 8. Economic growth, Comparative literature, Männlichkeitsforschung/Masculinity Studies, ÖFOS 2012 -- HUMAN MEDICINE, HEALTH SCIENCES (3) -- Medical-Theoretical Sciences, Pharmacy (301) -- Medical Biochemistry, Human Genetics (3013) -- Ageing research (301308), Gender studies, Biography, Literature and Literary studies, Thema Subject Codes -- Biography, Literature and Literary studies (D) -- Literature: history and criticism (DS) -- Comparative literature (DSM), Masculinity Studies

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Giant congenital melanocytic naevus caused by NRAS Q61K mosaicism

Authors: Carl M. Thielmann Antje Kampmeier Alma Küchler et al.

Source: JEADV Clinical Practice, Vol 1, Iss 4, Pp 416-419 (2022)

Subject Terms: ddc:610, Medizin, NRAS, Dermatology, Medizinische Fakultät » Universitätsklinikum Essen » Klinik für Dermatologie, giant melanocytic naevus -- melanoma -- NRAS, Diseases of the genitourinary system. Urology, 3. Good health, Medizinische Fakultät » Universitätsklinikum Essen » Institut für Humangenetik, 03 medical and health sciences, 0302 clinical medicine, giant melanocytic naevus, RL1-803, melanoma, RC870-923, ScholarlyArticle

Access URL: https://doaj.org/article/7604a5c3f0f944a1a79aca15ca67cb6e
https://duepublico2.uni-due.de/receive/duepublico_mods_00078918
https://duepublico2.uni-due.de/receive/duepublico_mods_00078918
https://doi.org/10.1002/jvc2.61
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85181448907

The clinical utility of cfRNA for disease detection and surveillance: A proof of concept study in non‐small cell lung cancer

Authors: Martin Metzenmacher Balazs Hegedüs Jan Forster et al.

Source: Thorac Cancer
Thoracic Cancer, Vol 13, Iss 15, Pp 2180-2191 (2022)

Subject Terms: Lung Neoplasms, Medizinische Fakultät » Universitätsklinikum Essen » Ruhrlandklinik Essen – Universitätsklinik, Medizin, ddPCR, cfRNA, Medizinische Fakultät » Universitätsklinikum Essen » Institut für Transfusionsmedizin, NSCLC, Proof of Concept Study, Medizinische Fakultät » Universitätsklinikum Essen » Westdeutsches Tumorzentrum Essen (WTZ), Medizinische Fakultät » Universitätsklinikum Essen » Institut für Humangenetik, 03 medical and health sciences, 0302 clinical medicine, Antigens, Neoplasm, Carcinoma, Non-Small-Cell Lung, Biomarkers, Tumor, Humans, ddc:610, RC254-282, Keratin-19, liquid biopsy, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, cfRN -- ddPCR -- liquid biopsy -- NGS -- NSCLC, Original Articles, 3. Good health, ErbB Receptors, NGS, Mutation, ScholarlyArticle, Cell-Free Nucleic Acids, Transcription Factors

Access URL: https://pubmed.ncbi.nlm.nih.gov/35708207
https://doaj.org/article/2636748d7c9c455babf6ed2f5ee009ba
https://duepublico2.uni-due.de/receive/duepublico_mods_00078910

Five challenges for an integrated archaeogenetic paradigm

Authors: Kristiansen, Kristian, 1948

Source: Ancient DNA and the European Neolithic / Edited by Alasdair Whittle, Joshua Pollard and Susan Greaney.. :31-40

Subject Terms: Archaeology, Arkeologi, Humangenetik, Neolitisk tid, Förhistoriska människan, Paleobiology, Human population genetics, DNA History, Prehistoric peoples Europe, Neolithic period Europe, DNA historia, Paleobiologi, Prehistoric peoples, Human genetics, Neolithic period, Europa

Access URL: https://gup.ub.gu.se/publication/337623

Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome

Authors: Ina Kirchberg Elke Lainka Andrea Gangfuß et al.

Source: Front Pediatr
Frontiers in Pediatrics, Vol 12 (2024)

Subject Terms: 0301 basic medicine, ddc:610, 0303 health sciences, Pediatrics, MEGDHEL syndrome, SERAC1, hyperammonemia, liver failure, neurometabolic disorder, lactic acidosis, Medizinische Fakultät » Universitätsklinikum Essen » Zentrum für Kinder- und Jugendmedizin » Klinik für Kinderheilkunde I/Perinatalzentrum, Medizin, RJ1-570, ddc, 3. Good health, Medizinische Fakultät » Universitätsklinikum Essen » Institut für Humangenetik, 03 medical and health sciences, Medizinische Fakultät » Universitätsklinikum Essen » Center for Translational Neuro- and Behavioral Science (C-TNBS), ScholarlyArticle, MEGDHEL syndrome -- SERAC1 -- hyperammonemia -- liver failure -- neurometabolic disorder -- lactic acidosis

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Access URL: https://pubmed.ncbi.nlm.nih.gov/38445077
https://doaj.org/article/7f48da23cd244ccda1488ac164242ba9
https://mediatum.ub.tum.de/doc/1739528/document.pdf
https://duepublico2.uni-due.de/receive/duepublico_mods_00081750
https://duepublico2.uni-due.de/receive/duepublico_mods_00081750
https://doi.org/10.3389/fped.2024.1278047
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85186608152
https://www.ncbi.nlm.nih.gov/pubmed/38445077

A common allele increases endometrial Wnt4 expression, with antagonistic implications for pregnancy, reproductive cancers, and endometriosis

Authors: Pavličev, Mihaela McDonough-Goldstein, Caitlin E. Zupan, Andreja Moset et al.

Source: Nat Commun
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)

Subject Terms: endometriosis, 0301 basic medicine, Science, Endometriosis, 301301 Humangenetik, antagonistic pleiotropy, 301301 Human genetics, Article, Mice, Endometrium, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Pregnancy, Wnt4 Protein, Neoplasms, Humans, Animals, 106038 Reproduktionsbiologie, Alleles, 0303 health sciences, Estrogens, 3. Good health, Mutagenesis, SDG 3 – Gesundheit und Wohlergehen, Female, Urogenital reproductive disorders, 106038 Reproductive biology, Embryo Implantation/physiology, cancer invasion

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Access URL: https://pubmed.ncbi.nlm.nih.gov/38346980
https://doaj.org/article/cadb3fc3e4c1402b819437bdad61dc1a
https://ucrisportal.univie.ac.at/de/publications/fb7b8831-7f08-4b5f-baa6-c06d4b2541e6
https://doi.org/10.1038/s41467-024-45338-4
https://phaidra.univie.ac.at/o:2082893
https://hdl.handle.net/11353/10.2082893
https://doi.org/10.1038/s41467-024-45338-4

Pancreatic cancer acquires resistance to MAPK pathway inhibition by clonal expansion and adaptive DNA hypermethylation

Authors: Godfrey, Laura K Forster, Jan Liffers, Sven-Thorsten et al.

Contributors: Godfrey, Laura K Forster, Jan Liffers, Sven-Thorsten et al.

Source: Clin Epigenetics
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-22 (2024)

Subject Terms: 0301 basic medicine, Medizinische Fakultät » Universitätsklinikum Essen » Institut für KI in der Medizin (IKIM), Pancreatic Neoplasms/genetics [MeSH], Cell Line, Tumor [MeSH], Mutation [MeSH], Cancer, Clonal expansion, Animals [MeSH], Pancreatic Neoplasms/drug therapy [MeSH], Therapy resistance, Carcinoma, Pancreatic Ductal/genetics [MeSH], Proto-Oncogene Proteins p21(ras)/genetics [MeSH], Epigenetic plasticity, Carcinoma, Pancreatic Ductal/drug therapy [MeSH], Mice [MeSH], DNA Methylation [MeSH], Research, Mitogen-Activated Protein Kinase Kinases/genetics [MeSH], PDAC, DNA methylation, Mitogen-Activated Protein Kinase Kinases/therapeutic use [MeSH], WGBS, DNA/metabolism [MeSH], Mitogen-Activated Protein Kinase Kinases/metabolism [MeSH], Cancer -- Therapy resistance -- Epigenetic plasticity -- DNA methylation -- WGBS -- Clonal expansion -- PDAC, Medizin, QH426-470, Medizinische Fakultät » Universitätsklinikum Essen » Westdeutsches Tumorzentrum Essen (WTZ), Medizinische Fakultät » Universitätsklinikum Essen » Institut für Humangenetik, Proto-Oncogene Proteins p21(ras), Mice, 03 medical and health sciences, Cell Line, Tumor, Genetics, Animals, ddc:610, Mitogen-Activated Protein Kinase Kinases, 0303 health sciences, DNA, DNA Methylation, 3. Good health, Pancreatic Neoplasms, Mutation, Medicine, ScholarlyArticle, Carcinoma, Pancreatic Ductal

Access URL: https://pubmed.ncbi.nlm.nih.gov/38229153
https://doaj.org/article/d600d9b4f409474cb363cc7b8d335cf3
https://resolver.sub.uni-goettingen.de/purl?gro-2/140420
https://repository.publisso.de/resource/frl:6492823
https://duepublico2.uni-due.de/receive/duepublico_mods_00082289

Charakterisierung einer neuartigen TXNIP-assoziierten Glukose- und Lipidstoffwechselstörung

Authors: Piel, Sharlaine Yun Lan

Subject Terms: TXNIP, 610: Medizin, 44.77: Stoffwechselkrankheiten, Humangenetik, Stoffwechselkrankheit, Lipidstoffwechsel, Glucosestoffwechsel, Leber, Muskel, ddc:610:

Access URL: http://nbn-resolving.de/urn:nbn:de:gbv:18-ediss-129996
https://ediss.sub.uni-hamburg.de/handle/ediss/11815

'Selektive' Fortpflanzung durch pränatale Diagnostik?

Authors: Rehmann-Sutter, Christoph

Source: Ethik in der Medizin. 34:7-26

Subject Terms: 03 medical and health sciences, 0302 clinical medicine, Noninvasive prenatal tests (NIPT), Originalarbeit, Selektive Reproduktion, Pränatale Diagnostik, Stephen Wilkinson, Nicht-invasive pränatale Tests (NIPT), Selection, Prenatal diagnosis, Selektion, Soziale Praktiken, Humangenetik, Selective reproduction, Social practices, Human genetics, 06 humanities and the arts, 0603 philosophy, ethics and religion

Access URL: https://link.springer.com/content/pdf/10.1007/s00481-021-00658-7.pdf
https://paperity.org/p/273104004/selektive-fortpflanzung-durch-pranatale-diagnostik
https://link.springer.com/content/pdf/10.1007/s00481-021-00658-7.pdf
https://link.springer.com/article/10.1007/s00481-021-00658-7
https://repository.publisso.de/resource/frl:6449648

Early detection of metastatic uveal melanoma by the analysis of tumor‐specific mutations in cell‐free plasma DNA

Authors: Claudia H. D. Le Guin Norbert Bornfeld Nikolaos E. Bechrakis et al.

Source: Cancer Med
Cancer Medicine, Vol 10, Iss 17, Pp 5974-5982 (2021)

Subject Terms: Male, Uveal Neoplasms, Medizinische Fakultät » Universitätsklinikum Essen » Innere Klinik (Tumorforschung), Forschungszentren » Zentrum für Medizinische Biotechnologie (ZMB), Medizin, oncogenic mutations, Circulating Tumor DNA, Medizinische Fakultät » Universitätsklinikum Essen » Institut für Humangenetik, 03 medical and health sciences, GNAQ/GNA11, 0302 clinical medicine, Uveal Melanoma, Humans, ddc:610, Neoplasm Metastasis, cell‐free DNA, Melanoma, RC254-282, cell- free DNA -- cell-free tumor DNA -- deep amplicon sequencing -- GNAQ/GNA11 -- oncogenic mutations -- uveal melanoma, deep amplicon sequencing, Medizinische Fakultät » Universitätsklinikum Essen » Klinik für Augenheilkunde, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Clinical Cancer Research, Middle Aged, Prognosis, 3. Good health, Mutation, Female, cell‐free tumor DNA, uveal melanoma, ScholarlyArticle

Access URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/cam4.4153
https://pubmed.ncbi.nlm.nih.gov/34291585
https://doaj.org/article/4c5d5655e9074e3099b6a501231eb695
https://onlinelibrary.wiley.com/doi/10.1002/cam4.4153
https://onlinelibrary.wiley.com/doi/pdf/10.1002/cam4.4153
https://www.ncbi.nlm.nih.gov/pubmed/34291585
https://pubmed.ncbi.nlm.nih.gov/34291585/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8419753
https://duepublico2.uni-due.de/receive/duepublico_mods_00082211
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85110773439
https://www.ncbi.nlm.nih.gov/pubmed/34291585
https://duepublico2.uni-due.de/receive/duepublico_mods_00082211
https://doi.org/10.1002/cam4.4153

Eye movement alterations in presymptomatic C9orf72 expansion gene carriers

Authors: Anna Behler Antje Knehr Julia Finsel et al.

Source: J Neurol

Subject Terms: Humangenetik, Heterozygote, Eye Movements, Kinesins, Neurocognitive disorders, 03 medical and health sciences, Amyotrophic lateral sclerosis, Genetics, Cognition, 0302 clinical medicine, C9orf72, Saccades, Humans, Mutation/genetics [MeSH], Heterozygote [MeSH], RNA Helicases [MeSH], Presymptomatic gene carriers, Eye Movements [MeSH], C9orf72 Protein/genetics [MeSH], Humans [MeSH], Multifunctional Enzymes [MeSH], DNA Helicases [MeSH], DNA Repeat Expansion/genetics [MeSH], Amyotrophic Lateral Sclerosis/genetics [MeSH], Frontotemporal Dementia/genetics [MeSH], Original Communication, Kinesins [MeSH], 10. No inequality, 2. Zero hunger, DNA Repeat Expansion, C9orf72 Protein, Myatrophische Lateralsklerose, Amyotrophic Lateral Sclerosis, DNA Helicases, Kognitive Störung, Multifunctional Enzymes, 3. Good health, Frontotemporal Dementia, Mutation, Sakkade, Kognition, RNA Helicases

File Description: application/pdf

Access URL: https://link.springer.com/content/pdf/10.1007/s00415-021-10510-z.pdf
https://pubmed.ncbi.nlm.nih.gov/33709219
https://link.springer.com/content/pdf/10.1007/s00415-021-10510-z.pdf
https://www.link.springer.com/article/10.1007/s00415-021-10510-z?error=cookies_not_supported&code=398f44a0-e948-477b-95c9-9f00fac8842d
https://link.springer.com/article/10.1007/s00415-021-10510-z
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8357645
https://www.ncbi.nlm.nih.gov/pubmed/33709219
https://repository.publisso.de/resource/frl:6450276

The different clinical facets of SYN1-related neurodevelopmental disorders

Authors: Ilaria Parenti Elsa Leitão Alma Kuechler et al.

Contributors: Ilaria Parenti Elsa Leitão Alma Kuechler et al.

Source: Front Cell Dev Biol
Frontiers in Cell and Developmental Biology, Vol 10 (2022)

Subject Terms: 0301 basic medicine, Genotype-phenotype correlation, QH301-705.5, [SDV]Life Sciences [q-bio], autism spectrum disorders, Medizin, [SDV.GEN] Life Sciences [q-bio]/Genetics, reflex epilepsy, genotype-phenotype correlation, Medizinische Fakultät » Universitätsklinikum Essen » Institut für Humangenetik, Cell and Developmental Biology, 03 medical and health sciences, ddc:610, synapsins, Biology (General), [SDV.GEN]Life Sciences [q-bio]/Genetics, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Medizinische Fakultät » Universitätsklinikum Essen » Essener Zentrum für seltene Erkrankungen (EZSE), neurodevelopmental disorders, Neurodevelopmental disorders, SYN1, Autism spectrum disorders, Synapsins, 3. Good health, [SDV] Life Sciences [q-bio], Reflex epilepsy, SYN1 -- synapsins -- reflex epilepsy -- genotype-phenotype correlation -- neurodevelopmental disorders -- autism spectrum disorders, ScholarlyArticle, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

File Description: application/pdf; application/rdf+xml; charset=utf-8

Access URL: https://pubmed.ncbi.nlm.nih.gov/36568968
https://doaj.org/article/c1a36df17ff14365b4007779f383c9f0
http://hdl.handle.net/20.500.12210/84132
https://duepublico2.uni-due.de/servlets/MCRFileNodeServlet/duepublico_derivate_00078172/fcell_2022_10-1019715.pdf

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Authors: Leitão, Elsa Schröder, Christopher Parenti, Ilaria et al.

Contributors: Leitão, Elsa Schröder, Christopher Parenti, Ilaria et al.

Source: Nat Commun
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Nature Communications
Nature Communications, vol 13, iss 1

Subject Terms: 0301 basic medicine, INTELLECTUAL DISABILITY, Autism Spectrum Disorder, Autism, CPG DENSITY, Medizin, Neurodegenerative, VARIANTS, Genes, X-Linked, Databases, Genetic, 2.1 Biological and endogenous factors, Aetiology, ddc:610, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Biological Sciences, [SDV] Life Sciences [q-bio], Mental Health, Mental health, INACTIVATION, Biotechnology, Human, EXPRESSION, Intellectual and Developmental Disabilities (IDD), Science, Bioinformatics and Computational Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, R/BIOCONDUCTOR PACKAGE, Chromosomes, Article, Medizinische Fakultät » Universitätsklinikum Essen » Institut für Humangenetik, Databases, 03 medical and health sciences, Genetic, Intellectual Disability, Genetics, Humans, Chromosomes, Human, X, LANDSCAPE, MUTATIONS, Human Genome, X-Linked, FRAMEWORK, [STAT.ML] Statistics [stat]/Machine Learning [stat.ML], Brain Disorders, Genes, VERTEBRATE, ScholarlyArticle

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/36323681
https://doaj.org/article/bbc1baaa0cad458284efc798bb89f556
http://hdl.handle.net/21.11116/0000-000B-6343-A
http://hdl.handle.net/21.11116/0000-000B-6345-8
https://escholarship.org/content/qt7qk7p68d/qt7qk7p68d.pdf
https://escholarship.org/uc/item/7qk7p68d
https://duepublico2.uni-due.de/receive/duepublico_mods_00078580
https://www.ncbi.nlm.nih.gov/pubmed/36323681
https://doi.org/10.1038/s41467-022-34264-y
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85141183419
https://duepublico2.uni-due.de/receive/duepublico_mods_00078580

Epidemiologie, Begleitsymptome und Familienhistorie von Brustwanddeformitäten im Kindesalter

Authors: Bhullar, Jasmin Kaur

Subject Terms: Brustwanddeformität, Sternumspalte, 610: Medizin, 44.00: Medizin: Allgemeines, Thoraxdeformität, Trichterbrust, Hühnerbrust, Humangenetik, ddc:610:

Access URL: http://nbn-resolving.de/urn:nbn:de:gbv:18-ediss-119325
https://ediss.sub.uni-hamburg.de/handle/ediss/11021

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants inBRCA1/2: results of the observational AGO-TR1 study (NCT02222883)

Authors: Jan Hauke Philipp Harter Corinna Ernst et al.

Source: J Med Genet

Subject Terms: 0301 basic medicine, Humangenetik, Genetic testing, Medizin, Genes, BRCA1, Loss of Heterozygosity, Genetic predisposition to disease, Prädisposition, Breast Neoplasms, Germ-line mutation, 03 medical and health sciences, DDC 570 / Life sciences, Cancer Genetics, Humans, Genetic Predisposition to Disease, Genetic research, Germ-Line Mutation, BRCA2 Protein, Ovarian Neoplasms, 0303 health sciences, BRCA1 Protein, 3. Good health, Germ Cells, Keimbahn, Mutation, Female, Technology Platforms, DDC 610 / Medicine & health

File Description: application/pdf

Access URL: https://jmg.bmj.com/content/jmedgenet/early/2020/12/03/jmedgenet-2020-107353.full.pdf
https://pubmed.ncbi.nlm.nih.gov/33273034
https://www.ncbi.nlm.nih.gov/pubmed/33273034
http://pubmed.ncbi.nlm.nih.gov/33273034/
https://pubmed.ncbi.nlm.nih.gov/33273034/
https://jmg.bmj.com/content/early/2020/12/03/jmedgenet-2020-107353
https://jmg.bmj.com/content/jmedgenet/early/2020/12/03/jmedgenet-2020-107353.full.pdf
http://edoc.mdc-berlin.de/20540/7/20540suppl.pdf

Untersuchungen zur Pathogenese der Spinocerebellären Ataxien (SCA) mit Fokus auf Ionenkanal-Defekten (SCA13 und SCA19/22) und anderen verursachenden Mechanismen

Authors: Reis, Marlen Colleen

Subject Terms: Kaliumkanal, Humangenetik, Spinocerebelläre Ataxie, Channelopathie, Medizin, ddc:610, Medical sciences Medicine