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Weimin Bi

Showing results (121-130 of 138) with videos related to

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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.
American Journal of Medical Genetics. Part A|September 22, 2022
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plusMary R Sy, Jaynee Chauhan, Katrina Prescott, et al.
The New England Journal of Medicine|June 20, 2019
Reanalysis of Clinical Exome Sequencing DataPengfei Liu, Linyan Meng, Elizabeth A Normand, et al.
Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, 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.
Epilepsia|May 27, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severityMichelle E Ernst, Evan H Baugh, Amanda Thomas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D Fountain, David S Oleson, Megan E Rech, et al.
Genome Medicine|March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
American Journal of Human Genetics|January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
American Journal of Human Genetics|April 8, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
Pageof 14

Showing results (121-130 of 138) with videos related to

Sort By:
Pageof 14
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.
American Journal of Medical Genetics. Part A|September 22, 2022
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plusMary R Sy, Jaynee Chauhan, Katrina Prescott, et al.
The New England Journal of Medicine|June 20, 2019
Reanalysis of Clinical Exome Sequencing DataPengfei Liu, Linyan Meng, Elizabeth A Normand, et al.
Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, 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.
Epilepsia|May 27, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severityMichelle E Ernst, Evan H Baugh, Amanda Thomas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D Fountain, David S Oleson, Megan E Rech, et al.
Genome Medicine|March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
American Journal of Human Genetics|January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
American Journal of Human Genetics|April 8, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
Pageof 14