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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 12, 2019
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Siddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
JAMA Network Open
|
March 17, 2025
Genomic Screening at a Single Health System
Juliann M Savatt, Melissa A Kelly, Amy C Sturm, et al.
The New England Journal of Medicine
|
May 28, 2015
ClinGen--the Clinical Genome Resource
Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2025
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing
Marissa W Mitchel, Matthew Oetjens, Alexander S F Berry, et al.
Human Mutation
|
October 13, 2018
ClinGen's GenomeConnect registry enables patient-centered data sharing
Juliann M Savatt, Danielle R Azzariti, W Andrew Faucett, et al.
Journal of Autism and Developmental Disorders
|
May 22, 2016
Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
LeeAnne Green Snyder, Debra D'Angelo, Qixuan Chen, et al.
JAMA
|
February 2, 2021
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
Andrés Moreno-De-Luca, Francisca Millan, Denis R Pesacreta, et al.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
|
January 19, 2016
INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES
Anurag Verma, Joseph B Leader, Shefali S Verma, et al.
Human Mutation
|
August 20, 2015
Diagnostic interpretation of array data using public databases and internet sources
Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y Hehir-Kwa, et al.
JAMA Psychiatry
|
December 11, 2014
The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions
Andres Moreno-De-Luca, David W Evans, K B Boomer, et al.
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of 13
Search research articles
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Showing results (71-80 of 125) with videos related to
Sort By:
Page
of 13
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 12, 2019
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Siddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
JAMA Network Open
|
March 17, 2025
Genomic Screening at a Single Health System
Juliann M Savatt, Melissa A Kelly, Amy C Sturm, et al.
The New England Journal of Medicine
|
May 28, 2015
ClinGen--the Clinical Genome Resource
Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2025
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing
Marissa W Mitchel, Matthew Oetjens, Alexander S F Berry, et al.
Human Mutation
|
October 13, 2018
ClinGen's GenomeConnect registry enables patient-centered data sharing
Juliann M Savatt, Danielle R Azzariti, W Andrew Faucett, et al.
Journal of Autism and Developmental Disorders
|
May 22, 2016
Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
LeeAnne Green Snyder, Debra D'Angelo, Qixuan Chen, et al.
JAMA
|
February 2, 2021
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
Andrés Moreno-De-Luca, Francisca Millan, Denis R Pesacreta, et al.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
|
January 19, 2016
INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES
Anurag Verma, Joseph B Leader, Shefali S Verma, et al.
Human Mutation
|
August 20, 2015
Diagnostic interpretation of array data using public databases and internet sources
Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y Hehir-Kwa, et al.
JAMA Psychiatry
|
December 11, 2014
The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions
Andres Moreno-De-Luca, David W Evans, K B Boomer, et al.
Page
of 13