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Yaping Yang

Showing results (381-390 of 410) with videos related to

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American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
Annals of Neurology|October 9, 2018
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defectKyle A Metz, Xinchen Teng, Isabelle Coppens, et al.
American Journal of Human Genetics|March 28, 2017
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic FeaturesTeresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratoriesJulianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 familiesMichael D Fountain, Emmelien Aten, Megan T Cho, et al.
American Journal of Human Genetics|July 31, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2018
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathiesBo Yuan, Juanita Neira, Davut Pehlivan, et al.
Annals of Neurology|January 14, 2021
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar HypoplasiaLinyan Meng, Pirjo Isohanni, Yunru Shao, et al.
American Journal of Human Genetics|September 8, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
Pageof 41

Showing results (381-390 of 410) with videos related to

Sort By:
Pageof 41
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
Annals of Neurology|October 9, 2018
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defectKyle A Metz, Xinchen Teng, Isabelle Coppens, et al.
American Journal of Human Genetics|March 28, 2017
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic FeaturesTeresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratoriesJulianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 familiesMichael D Fountain, Emmelien Aten, Megan T Cho, et al.
American Journal of Human Genetics|July 31, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2018
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathiesBo Yuan, Juanita Neira, Davut Pehlivan, et al.
Annals of Neurology|January 14, 2021
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar HypoplasiaLinyan Meng, Pirjo Isohanni, Yunru Shao, et al.
American Journal of Human Genetics|September 8, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
Pageof 41