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Weimin He

Showing results (91-100 of 97) 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.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, 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.
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.
Human Genetics|October 20, 2014
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrumAlma Kuechler, Marjolein H Willemsen, Beate Albrecht, et al.
Annals of Clinical and Translational Neurology|October 24, 2018
Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in femalesXia Wang, Jennifer E Posey, Jill A Rosenfeld, et al.
JAMA Pediatrics|October 4, 2017
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical ManagementLinyan Meng, Mohan Pammi, Anirudh Saronwala, et al.
Pageof 10

Showing results (91-100 of 97) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 97 results.
JAMA|October 19, 2014
Molecular findings among patients referred for clinical whole-exome sequencingYaping Yang, Donna M Muzny, Fan Xia, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, 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.
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.
Human Genetics|October 20, 2014
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrumAlma Kuechler, Marjolein H Willemsen, Beate Albrecht, et al.
Annals of Clinical and Translational Neurology|October 24, 2018
Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in femalesXia Wang, Jennifer E Posey, Jill A Rosenfeld, et al.
JAMA Pediatrics|October 4, 2017
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical ManagementLinyan Meng, Mohan Pammi, Anirudh Saronwala, et al.
Pageof 10