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Showing results (331-340 of 388) with videos related to

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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 disordersSiddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
Human Molecular Genetics|January 15, 1999
The spectrum of mutations in UBE3A causing Angelman syndromeP Fang, E Lev-Lehman, T F Tsai, et al.
JAMA Network Open|March 17, 2025
Genomic Screening at a Single Health SystemJuliann M Savatt, Melissa A Kelly, Amy C Sturm, et al.
Neurology|August 1, 1996
X-linked malformations of neuronal migrationW B Dobyns, E Andermann, F Andermann, et al.
The New England Journal of Medicine|May 28, 2015
ClinGen--the Clinical Genome ResourceHeidi 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 sequencingMarissa W Mitchel, Matthew Oetjens, Alexander S F Berry, et al.
Human Mutation|October 13, 2018
ClinGen's GenomeConnect registry enables patient-centered data sharingJuliann 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 DuplicationLeeAnne Green Snyder, Debra D'Angelo, Qixuan Chen, et al.
JAMA|February 2, 2021
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral PalsyAndrés 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 STUDIESAnurag Verma, Joseph B Leader, Shefali S Verma, et al.
Pageof 39

Showing results (331-340 of 388) with videos related to

Sort By:
Pageof 39
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 disordersSiddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
Human Molecular Genetics|January 15, 1999
The spectrum of mutations in UBE3A causing Angelman syndromeP Fang, E Lev-Lehman, T F Tsai, et al.
JAMA Network Open|March 17, 2025
Genomic Screening at a Single Health SystemJuliann M Savatt, Melissa A Kelly, Amy C Sturm, et al.
Neurology|August 1, 1996
X-linked malformations of neuronal migrationW B Dobyns, E Andermann, F Andermann, et al.
The New England Journal of Medicine|May 28, 2015
ClinGen--the Clinical Genome ResourceHeidi 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 sequencingMarissa W Mitchel, Matthew Oetjens, Alexander S F Berry, et al.
Human Mutation|October 13, 2018
ClinGen's GenomeConnect registry enables patient-centered data sharingJuliann 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 DuplicationLeeAnne Green Snyder, Debra D'Angelo, Qixuan Chen, et al.
JAMA|February 2, 2021
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral PalsyAndrés 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 STUDIESAnurag Verma, Joseph B Leader, Shefali S Verma, et al.
Pageof 39