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American Journal of Human Genetics
|
August 25, 2015
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
Akemi J Tanaka, Megan T Cho, Francisca Millan, et al.
Human Mutation
|
February 13, 2013
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project
William S Oetting, Peter N Robinson, Marc S Greenblatt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 12, 2022
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Samantha M Baxter, Jennifer E Posey, Nicole J Lake, et al.
JCI Insight
|
January 25, 2024
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation
Irini Manoli, Justin R Sysol, PamelaSara E Head, et al.
American Journal of Human Genetics
|
May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
David T Miller, Margaret P Adam, Swaroop Aradhya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 19, 2019
Insights into genetics, human biology and disease gleaned from family based genomic studies
Jennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, et al.
American Journal of Human Genetics
|
May 6, 2017
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Kym M Boycott, Ana Rath, Jessica X Chong, et al.
Human Mutation
|
August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discovery
Anthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.
Page
of 11
Search research articles
Search
Showing results (81-90 of 109) with videos related to
Sort By:
Page
of 11
American Journal of Human Genetics
|
August 25, 2015
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
Akemi J Tanaka, Megan T Cho, Francisca Millan, et al.
Human Mutation
|
February 13, 2013
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project
William S Oetting, Peter N Robinson, Marc S Greenblatt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 12, 2022
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Samantha M Baxter, Jennifer E Posey, Nicole J Lake, et al.
JCI Insight
|
January 25, 2024
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation
Irini Manoli, Justin R Sysol, PamelaSara E Head, et al.
American Journal of Human Genetics
|
May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
David T Miller, Margaret P Adam, Swaroop Aradhya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 19, 2019
Insights into genetics, human biology and disease gleaned from family based genomic studies
Jennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, et al.
American Journal of Human Genetics
|
May 6, 2017
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Kym M Boycott, Ana Rath, Jessica X Chong, et al.
Human Mutation
|
August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discovery
Anthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.
Page
of 11