المؤلفون: Jiajun Yin, Juan Zhou, Fang Fang, Shui Yu, Jun Wang, Jianmin Yuan, Zhenhe Zhou

المصدر: Frontiers in Molecular Neuroscience, Vol 16 (2023)

مصطلحات موضوعية: VIPR2 gene, schizophrenia, amplicon targeted resequencing, association study, causative variants, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2023.1170708/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/8ab7747ad6c34b39a04d2aecc82b7769

المؤلفون: Roozbeh Manshaei, Sean DeLong, Veronica Andric, Esha Joshi, John B. A. Okello, Priya Dhir, Cherith Somerville, Kirsten M. Farncombe, Kelsey Kalbfleisch, Rebekah K. Jobling, Stephen W. Scherer, Raymond H. Kim, S. Mohsen Hosseini

المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Genome interpretation, Genomic variants, Genotype–phenotype correlation, Disease gene validity, Variant pathogenicity, Causative variants, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/d674837ee7fe4996b3c6b8ee73fcff1d

المؤلفون: Maryam Eghbali, Kiyana Sadat Fatemi, Shadab Salehpour, Maryam Abiri, Hassan Saei, Saeed Talebi, Nasrin Alipour Olyaei, Vahid Reza Yassaee, Mohammad Hossein Modarressi

المصدر: Frontiers in Genetics, Vol 11 (2021)

مصطلحات موضوعية: glycogen storage diseases, whole-exome sequencing, novel causative variants, secondary/incidental findings, pharmacogenetic variants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2020.601566/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/d0fbfc0c01d64d0daf92024e91a3ee2a

المؤلفون: Matthew Jensen, Santhosh Girirajan

المصدر: Genome Medicine, Vol 9, Iss 1, Pp 1-3 (2017)

مصطلحات موضوعية: Causative variants, Complex disease, Copy number variants, Gene discovery, Modifiers, Neurodevelopmental disorders, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-017-0503-4; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/10b8ce446b2c4ee286fa7ab0ca795303

المؤلفون: Harland, Chad

المساهمون: Charlier, Carole, Georges, Michel, GIGA‐R - Giga‐Research - ULiège, Unit of Animal Genomics

مصطلحات موضوعية: germline, de novo, Cattle, mutation, Bos taurus, Dairy, pedigree, Damona, whole genome sequence, Embryo development, SNPs, Indels, Endogenous RetroViruses, ERV, Causative variants, Deleterious variants, spontaneous mutation, mosaic, mosaicism, mosaic de novo mutations, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

وصف الملف: 268

URL الوصول: https://orbi.uliege.be/handle/2268/223689

المؤلفون: Jiajun Yin, Juan Zhou, Fang Fang, Shui Yu, Jun Wang, Jianmin Yuan, Zhenhe Zhou

مصطلحات موضوعية: Molecular Biology, Neuroscience, Structural Biology, Central Nervous System, Molecular Evolution, Molecular Medicine, VIPR2 gene, schizophrenia, amplicon targeted resequencing, association study, causative variants

Relation: https://figshare.com/articles/dataset/Table_1_Identification_of_VIPR2_rare_and_common_variants_in_the_Chinese_Han_population_with_schizophrenia_XLSX/22706359

الاتاحة: https://doi.org/10.3389/fnmol.2023.1170708.s002
https://figshare.com/articles/dataset/Table_1_Identification_of_VIPR2_rare_and_common_variants_in_the_Chinese_Han_population_with_schizophrenia_XLSX/22706359

المؤلفون: Soudyab, M., Shariati, M., Esfehani, R.J., Shalaei, N., Vafadar, S., Nouri, V., Zech, M., Winkelmann, J., Shoeibi, A., Sadr-Nabavi, A.

المصدر: J. Mol. Neurosci. 72, 2486-2496 (2022)

مصطلحات موضوعية: Causative Variants, Genetics, Genotype, Parkinson’s Disease, Whole-exome Sequencing

Relation: info:eu-repo/semantics/altIdentifier/pmid/36520381; info:eu-repo/semantics/altIdentifier/wos/000899479500002; info:eu-repo/semantics/altIdentifier/isbn/0895-8696; info:eu-repo/semantics/alt

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66982
https://doi.org/10.1007/s12031-022-02085-9

المؤلفون: Jourdain, Jeanlin

المساهمون: université Paris-Saclay, Capitan, Aurélien

مصطلحات موضوعية: Fertilité, Durée de gestation, Génomique, Bovin, Variants causaux, Anomalies génétiques, Fertility, Gestation length, Genomics, Bovine, Causative variants, Genetic defects

Relation: http://www.theses.fr/2024UPASB028

الاتاحة: http://www.theses.fr/2024UPASB028

المؤلفون: Žun, Gašper

المساهمون: Petrovič, Uroš

مصطلحات موضوعية: analiza X-QTL, quantitative trait locus, X-QTL analysis, vzročne variante, poligenske lastnosti, causative variants, yeast, kvasovka, lokus kvantitativne lastnosti, polygenic traits

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3505::26537b7e0fb0fa6f4f6ee98a0a201019
https://repozitorij.uni-lj.si/IzpisGradiva.php?id=119826

المؤلفون: Žun, Gašper

المساهمون: Petrovič, Uroš

مصطلحات موضوعية: kvasovka, poligenske lastnosti, vzročne variante, lokus kvantitativne lastnosti, analiza X-QTL, yeast, polygenic traits, causative variants, quantitative trait locus, X-QTL analysis

وصف الملف: application/pdf

Relation: https://repozitorij.uni-lj.si/IzpisGradiva.php?id=119826; https://repozitorij.uni-lj.si/Dokument.php?id=134562&dn=; https://plus.si.cobiss.net/opac7/bib/32630019?lang=sl

الاتاحة: https://repozitorij.uni-lj.si/IzpisGradiva.php?id=119826
https://repozitorij.uni-lj.si/Dokument.php?id=134562&dn=
https://plus.si.cobiss.net/opac7/bib/32630019?lang=sl

المؤلفون: Patrick M. A. Sleiman, Dexter Hadley, Nadine Cohen, Raquel E. Gur, Dai Wang, Joseph T. Glessner, Akshatha Desai, Qingqin Li, Leandro Lima, Michael E. March, Jin Li, Hakon Hakonarson, Charlly Kao

المصدر: Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)
Genome Medicine

مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, lcsh:QH426-470, Gene discovery, lcsh:Medicine, Locus (genetics), Disease, Biology, Quantitative PCR, 03 medical and health sciences, Causative variants, Gene Duplication, Gene-based analysis, mental disorders, Gene duplication, Genetics, medicine, Guanine Nucleotide Exchange Factors, Humans, Attention deficit hyperactivity disorder, SNP, Copy-number variation, Complex disease, Molecular Biology, Genetics (clinical), Adaptor Proteins, Signal Transducing, Copy number variants, Copy number variation, Research, Tumor Suppressor Proteins, Modifiers, lcsh:R, medicine.disease, Research Highlight, DOCK8, Human genetics, 3. Good health, Cytoskeletal Proteins, Meta-analysis, lcsh:Genetics, 030104 developmental biology, Neurodevelopmental Disorders, Molecular Medicine, Autism, Chromosomes, Human, Pair 9, Neuropsychiatric disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ebda239c1d6276bb45e1a1561a72aaa
https://doi.org/10.1186/s13073-017-0494-1

المؤلفون: Harland, Chad

المساهمون: Charlier, Carole, Georges, Michel, GIGA‐R - Giga‐Research - ULiège, Unit of Animal Genomics

مصطلحات موضوعية: germline, de novo, Cattle, mutation, Bos taurus, Dairy, pedigree, Damona, whole genome sequence, Embryo development, SNPs, Indels, Endogenous RetroViruses, ERV, Causative variants, Deleterious variants, spontaneous mutation, mosaic, mosaicism, mosaic de novo mutations, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: https://orbi.uliege.be/handle/2268/223689; info:hdl:2268/223689

الاتاحة: https://orbi.uliege.be/handle/2268/223689
https://orbi.uliege.be/bitstream/2268/223689/1/Thesis_ULG_CHAD_HARLAND_11-4-2018_print-final.pdf

المؤلفون: Buote, Caroline

Thesis Advisors: Lévesque, Sébastien, Jacques, Pierre-Étienne

مصطلحات موضوعية: PhenoVar, Séquençage de l'exome, Syndromes polyformatifs, Bio-informatique, Diagnostic et variants causals, Exome sequencing, Polymalformative syndromes, Bioinformatics, Diagnosis and causative variants

الاتاحة: http://hdl.handle.net/11143/6941

المؤلفون: Buote, Caroline

المساهمون: Lévesque, Sébastien, Jacques, Pierre-Étienne

مصطلحات موضوعية: PhenoVar, Séquençage de l'exome, Syndromes polyformatifs, Bio-informatique, Diagnostic et variants causals, Exome sequencing, Polymalformative syndromes, Bioinformatics, Diagnosis and causative variants

Relation: http://hdl.handle.net/11143/6941

الاتاحة: http://hdl.handle.net/11143/6941

Additional Titles: Clinical application of exome sequencing for molecular diagnosis of polymalformative syndromes

المؤلفون: Jacques, Pierre-Étienne, Buote, Caroline, Lévesque, Sébastien

مصطلحات الفهرس: PhenoVar, Séquençage de l'exome, Syndromes polyformatifs, Bio-informatique, Diagnostic et variants causals, Exome sequencing, Polymalformative syndromes, Bioinformatics, Diagnosis and causative variants, Mémoire

URL: http://hdl.handle.net/11143/6941