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Yaping Yang

Showing results (361-370 of 410) with videos related to

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JAMA|October 19, 2014
Molecular findings among patients referred for clinical whole-exome sequencingYaping Yang, Donna M Muzny, Fan Xia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tractAlexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, et al.
Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
American Journal of Human Genetics|July 9, 2016
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumLaura M Amendola, Gail P Jarvik, Michael C Leo, et al.
Genome Medicine|November 2, 2016
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile deathMohammad K Eldomery, Zeynep C Akdemir, F-Nora Vögtle, et al.
American Journal of Human Genetics|May 17, 2016
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumLaura M Amendola, Gail P Jarvik, Michael C Leo, et al.
American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.
Molecular Genetics & Genomic Medicine|August 23, 2018
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experienceKathryn M Porter, Tia L Kauffman, Barbara A Koenig, et al.
Human Genetics|June 30, 2017
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
Pageof 41

Showing results (361-370 of 410) with videos related to

Sort By:
Pageof 41
JAMA|October 19, 2014
Molecular findings among patients referred for clinical whole-exome sequencingYaping Yang, Donna M Muzny, Fan Xia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tractAlexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, et al.
Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
American Journal of Human Genetics|July 9, 2016
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumLaura M Amendola, Gail P Jarvik, Michael C Leo, et al.
Genome Medicine|November 2, 2016
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile deathMohammad K Eldomery, Zeynep C Akdemir, F-Nora Vögtle, et al.
American Journal of Human Genetics|May 17, 2016
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumLaura M Amendola, Gail P Jarvik, Michael C Leo, et al.
American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.
Molecular Genetics & Genomic Medicine|August 23, 2018
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experienceKathryn M Porter, Tia L Kauffman, Barbara A Koenig, et al.
Human Genetics|June 30, 2017
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
Pageof 41