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Yaping Yang

Showing results (371-380 of 410) with videos related to

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American Journal of Human Genetics|July 3, 2018
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic FeaturesMari J Tokita, Chun-An Chen, David Chitayat, et al.
Human Genetics|March 3, 2017
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.
JAMA Oncology|January 30, 2016
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid TumorsD Williams Parsons, Angshumoy Roy, Yaping Yang, et al.
American Journal of Human Genetics|January 6, 2018
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderDavor Lessel, Claudia Schob, Sébastien Küry, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndromeSeema R Lalani, Jing Zhang, Christian P Schaaf, et al.
American Journal of Human Genetics|May 31, 2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic EncephalopathyMarianna Madeo, Michelle Stewart, Yuyang Sun, et al.
American Journal of Human Genetics|September 26, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic FeaturesPaweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, et al.
Nature Genetics|July 14, 2015
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorderAlexander J Abrams, Robert B Hufnagel, Adriana Rebelo, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderDavor Lessel, Claudia Schob, Sébastien Küry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative geneMir Reza Bekheirnia, Nasim Bekheirnia, Matthew N Bainbridge, et al.
Pageof 41

Showing results (371-380 of 410) with videos related to

Sort By:
Pageof 41
American Journal of Human Genetics|July 3, 2018
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic FeaturesMari J Tokita, Chun-An Chen, David Chitayat, et al.
Human Genetics|March 3, 2017
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.
JAMA Oncology|January 30, 2016
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid TumorsD Williams Parsons, Angshumoy Roy, Yaping Yang, et al.
American Journal of Human Genetics|January 6, 2018
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderDavor Lessel, Claudia Schob, Sébastien Küry, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndromeSeema R Lalani, Jing Zhang, Christian P Schaaf, et al.
American Journal of Human Genetics|May 31, 2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic EncephalopathyMarianna Madeo, Michelle Stewart, Yuyang Sun, et al.
American Journal of Human Genetics|September 26, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic FeaturesPaweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, et al.
Nature Genetics|July 14, 2015
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorderAlexander J Abrams, Robert B Hufnagel, Adriana Rebelo, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderDavor Lessel, Claudia Schob, Sébastien Küry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative geneMir Reza Bekheirnia, Nasim Bekheirnia, Matthew N Bainbridge, et al.
Pageof 41