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Showing results (1231-1240 of 1,353) with videos related to

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American Journal of Human Genetics|February 1, 2020
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial MetabolismAdam C Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 11, 2020
Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitisKalpana Manthiram, Silvia Preite, Fatma Dedeoglu, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
Human Molecular Genetics|July 23, 2013
Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degenerationMorad Ansari, Paul M McKeigue, Christine Skerka, et al.
BMC Medical Genetics|March 13, 2010
A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine levelCristian Pattaro, Alessandro De Grandi, Veronique Vitart, et al.
Lancet (London, England)|December 23, 2014
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research dataCaroline F Wright, Tomas W Fitzgerald, Wendy D Jones, et al.
Human Molecular Genetics|October 28, 2008
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysisAsa Johansson, Fabio Marroni, Caroline Hayward, et al.
Frontiers in Global Women'S Health|July 9, 2026
The lipedema common case report form as a research tool: standardizing lipedema data collectionStephanie Galia, Rachelle Crescenzi, Philipp Kruppa, et al.
American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
Human Molecular Genetics|June 15, 2012
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3Valentina Cipriani, Hin-Tak Leung, Vincent Plagnol, et al.
Pageof 136

Showing results (1231-1240 of 1,353) with videos related to

Sort By:
Pageof 136
American Journal of Human Genetics|February 1, 2020
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial MetabolismAdam C Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 11, 2020
Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitisKalpana Manthiram, Silvia Preite, Fatma Dedeoglu, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
Human Molecular Genetics|July 23, 2013
Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degenerationMorad Ansari, Paul M McKeigue, Christine Skerka, et al.
BMC Medical Genetics|March 13, 2010
A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine levelCristian Pattaro, Alessandro De Grandi, Veronique Vitart, et al.
Lancet (London, England)|December 23, 2014
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research dataCaroline F Wright, Tomas W Fitzgerald, Wendy D Jones, et al.
Human Molecular Genetics|October 28, 2008
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysisAsa Johansson, Fabio Marroni, Caroline Hayward, et al.
Frontiers in Global Women'S Health|July 9, 2026
The lipedema common case report form as a research tool: standardizing lipedema data collectionStephanie Galia, Rachelle Crescenzi, Philipp Kruppa, et al.
American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
Human Molecular Genetics|June 15, 2012
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3Valentina Cipriani, Hin-Tak Leung, Vincent Plagnol, et al.
Pageof 136