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Alan R Shuldiner

Showing results (191-200 of 406) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2020
When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretationLina Basel-Salmon, Noa Ruhrman-Shahar, Naama Orenstein, et al.
Neuroepidemiology|August 3, 2020
Parkinson's Disease-Related Motor and Nonmotor Symptoms in the Lancaster AmishMichael D F Goldenberg, Xuemei Huang, Honglei Chen, et al.
Journal of Medical Genetics|June 8, 2018
Establishing the role of <i>PLVAP</i> in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotypeAlina Kurolap, Orly Eshach-Adiv, Claudia Gonzaga-Jauregui, et al.
Journal of Hepatology|October 27, 2011
Single nucleotide polymorphism upstream of interleukin 28B associated with phase 1 and phase 2 of early viral kinetics in patients infected with HCV genotype 1Charles D Howell, Alexis Gorden, Kathleen A Ryan, et al.
Human Heredity|April 19, 2013
Genetic variation at NCAN locus is associated with inflammation and fibrosis in non-alcoholic fatty liver disease in morbid obesityAlexis Gorden, Rongze Yang, Laura M Yerges-Armstrong, et al.
Pharmacogenetics and Genomics|February 17, 2017
Genome-wide analysis of clopidogrel active metabolite levels identifies novel variants that influence antiplatelet responseJoshua D Backman, Jeffrey R O'Connell, Keith Tanner, et al.
Obesity (Silver Spring, Md.)|August 28, 2024
Identification and functional validation of rare coding variants in genes linked to monogenic obesityÇiğdem Köroğlu, Michael Traurig, Yunhua L Muller, et al.
Diabetes|January 24, 2003
Genome-wide and fine-mapping linkage studies of type 2 diabetes and glucose traits in the Old Order Amish: evidence for a new diabetes locus on chromosome 14q11 and confirmation of a locus on chromosome 1q21-q24Wen-Chi Hsueh, Pamela L St Jean, Braxton D Mitchell, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 15, 2009
Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse modelEthan Daley, Elizabeth A Streeten, John D Sorkin, et al.
Diabetes|August 29, 2006
Polymorphisms in the glucokinase-associated, dual-specificity phosphatase 12 (DUSP12) gene under chromosome 1q21 linkage peak are associated with type 2 diabetesSwapan Kumar Das, Winston S Chu, Terri C Hale, et al.
Pageof 41

Showing results (191-200 of 406) with videos related to

Sort By:
Pageof 41
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2020
When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretationLina Basel-Salmon, Noa Ruhrman-Shahar, Naama Orenstein, et al.
Neuroepidemiology|August 3, 2020
Parkinson's Disease-Related Motor and Nonmotor Symptoms in the Lancaster AmishMichael D F Goldenberg, Xuemei Huang, Honglei Chen, et al.
Journal of Medical Genetics|June 8, 2018
Establishing the role of <i>PLVAP</i> in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotypeAlina Kurolap, Orly Eshach-Adiv, Claudia Gonzaga-Jauregui, et al.
Journal of Hepatology|October 27, 2011
Single nucleotide polymorphism upstream of interleukin 28B associated with phase 1 and phase 2 of early viral kinetics in patients infected with HCV genotype 1Charles D Howell, Alexis Gorden, Kathleen A Ryan, et al.
Human Heredity|April 19, 2013
Genetic variation at NCAN locus is associated with inflammation and fibrosis in non-alcoholic fatty liver disease in morbid obesityAlexis Gorden, Rongze Yang, Laura M Yerges-Armstrong, et al.
Pharmacogenetics and Genomics|February 17, 2017
Genome-wide analysis of clopidogrel active metabolite levels identifies novel variants that influence antiplatelet responseJoshua D Backman, Jeffrey R O'Connell, Keith Tanner, et al.
Obesity (Silver Spring, Md.)|August 28, 2024
Identification and functional validation of rare coding variants in genes linked to monogenic obesityÇiğdem Köroğlu, Michael Traurig, Yunhua L Muller, et al.
Diabetes|January 24, 2003
Genome-wide and fine-mapping linkage studies of type 2 diabetes and glucose traits in the Old Order Amish: evidence for a new diabetes locus on chromosome 14q11 and confirmation of a locus on chromosome 1q21-q24Wen-Chi Hsueh, Pamela L St Jean, Braxton D Mitchell, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 15, 2009
Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse modelEthan Daley, Elizabeth A Streeten, John D Sorkin, et al.
Diabetes|August 29, 2006
Polymorphisms in the glucokinase-associated, dual-specificity phosphatase 12 (DUSP12) gene under chromosome 1q21 linkage peak are associated with type 2 diabetesSwapan Kumar Das, Winston S Chu, Terri C Hale, et al.
Pageof 41