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Jennifer E Posey

Showing results (61-70 of 195) with videos related to

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Annals of Clinical and Translational Neurology|September 15, 2021
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variantDaniel G Calame, Jawid M Fatih, Isabella Herman, et al.
American Journal of Medical Genetics. Part A|November 30, 2019
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)Nurit Assia Batzir, Jennifer E Posey, Xiaofei Song, et al.
Journal of Neurointerventional Surgery|August 12, 2019
Exome sequencing reveals a novel variant in <i>NFX1</i> causing intracranial aneurysm in a Chinese familyXinghuan Ding, Sen Zhao, Qianqian Zhang, et al.
Molecular Genetics & Genomic Medicine|January 21, 2016
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac deathPhilip M Boone, Bo Yuan, Shen Gu, et al.
Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
Defining and Reducing Variant Classification DisparitiesMoez Dawood, Shawn Fayer, Sriram Pendyala, et al.
Genome Medicine|December 4, 2024
Using multiplexed functional data to reduce variant classification inequities in underrepresented populationsMoez Dawood, Shawn Fayer, Sriram Pendyala, et al.
Medrxiv : the Preprint Server for Health Sciences|January 8, 2026
Expanding the Clinical and Molecular Spectrum of <i>TUBB2B</i> Through Distinct Variants Identified Across Multiple FamiliesShaghayegh T Beheshti, Angad Jolly, Ahmed K Saad, et al.
Genome Medicine|April 3, 2024
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxyZain Dardas, Jawid M Fatih, Angad Jolly, et al.
Nucleic Acids Research|December 28, 2023
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing dataHaowei Du, Zain Dardas, Angad Jolly, et al.
The Journal of Allergy and Clinical Immunology|February 6, 2025
Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiencyManar Abdalgani, Evelyn R Hernandez, Luis A Pedroza, et al.
Pageof 20

Showing results (61-70 of 195) with videos related to

Sort By:
Pageof 20
Annals of Clinical and Translational Neurology|September 15, 2021
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variantDaniel G Calame, Jawid M Fatih, Isabella Herman, et al.
American Journal of Medical Genetics. Part A|November 30, 2019
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)Nurit Assia Batzir, Jennifer E Posey, Xiaofei Song, et al.
Journal of Neurointerventional Surgery|August 12, 2019
Exome sequencing reveals a novel variant in <i>NFX1</i> causing intracranial aneurysm in a Chinese familyXinghuan Ding, Sen Zhao, Qianqian Zhang, et al.
Molecular Genetics & Genomic Medicine|January 21, 2016
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac deathPhilip M Boone, Bo Yuan, Shen Gu, et al.
Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
Defining and Reducing Variant Classification DisparitiesMoez Dawood, Shawn Fayer, Sriram Pendyala, et al.
Genome Medicine|December 4, 2024
Using multiplexed functional data to reduce variant classification inequities in underrepresented populationsMoez Dawood, Shawn Fayer, Sriram Pendyala, et al.
Medrxiv : the Preprint Server for Health Sciences|January 8, 2026
Expanding the Clinical and Molecular Spectrum of <i>TUBB2B</i> Through Distinct Variants Identified Across Multiple FamiliesShaghayegh T Beheshti, Angad Jolly, Ahmed K Saad, et al.
Genome Medicine|April 3, 2024
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxyZain Dardas, Jawid M Fatih, Angad Jolly, et al.
Nucleic Acids Research|December 28, 2023
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing dataHaowei Du, Zain Dardas, Angad Jolly, et al.
The Journal of Allergy and Clinical Immunology|February 6, 2025
Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiencyManar Abdalgani, Evelyn R Hernandez, Luis A Pedroza, et al.
Pageof 20