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Daryl A Scott

Showing results (81-90 of 128) with videos related to

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Human Molecular Genetics|April 5, 2018
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic herniaValerie K Jordan, Tyler F Beck, Andres Hernandez-Garcia, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 5, 2022
A dominant negative variant of <i>RAB5B</i> disrupts maturation of surfactant protein B and surfactant protein CHuiyan Huang, Jiehong Pan, David R Spielberg, et al.
Human Molecular Genetics|July 15, 2026
SPEN deficiency contributes to the development of orofacial clefts in humans and miceBum Jun Kim, Andrés Hernández-García, David L Curtis, et al.
Human Mutation|September 16, 2020
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published casesXimena Montenegro-Garreaud, Adam W Hansen, Michael M Khayat, et al.
American Journal of Medical Genetics. Part A|December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network StudyQueenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
Molecular Autism|October 26, 2019
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autismHyung-Goo Kim, Jill A Rosenfeld, Daryl A Scott, et al.
American Journal of Medical Genetics. Part A|October 24, 2023
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variantsSoha Sewani, Mahshid S Azamian, Bryce A Mendelsohn, et al.
Human Mutation|January 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiencyYoel Gofin, Tianyun Wang, Madelyn A Gillentine, et al.
Human Molecular Genetics|June 19, 2013
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract developmentSeema R Lalani, Stephanie M Ware, Xueqing Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathiesChun-An Chen, John Lattier, Wenmiao Zhu, et al.
Pageof 13

Showing results (81-90 of 128) with videos related to

Sort By:
Pageof 13
Human Molecular Genetics|April 5, 2018
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic herniaValerie K Jordan, Tyler F Beck, Andres Hernandez-Garcia, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 5, 2022
A dominant negative variant of <i>RAB5B</i> disrupts maturation of surfactant protein B and surfactant protein CHuiyan Huang, Jiehong Pan, David R Spielberg, et al.
Human Molecular Genetics|July 15, 2026
SPEN deficiency contributes to the development of orofacial clefts in humans and miceBum Jun Kim, Andrés Hernández-García, David L Curtis, et al.
Human Mutation|September 16, 2020
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published casesXimena Montenegro-Garreaud, Adam W Hansen, Michael M Khayat, et al.
American Journal of Medical Genetics. Part A|December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network StudyQueenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
Molecular Autism|October 26, 2019
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autismHyung-Goo Kim, Jill A Rosenfeld, Daryl A Scott, et al.
American Journal of Medical Genetics. Part A|October 24, 2023
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variantsSoha Sewani, Mahshid S Azamian, Bryce A Mendelsohn, et al.
Human Mutation|January 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiencyYoel Gofin, Tianyun Wang, Madelyn A Gillentine, et al.
Human Molecular Genetics|June 19, 2013
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract developmentSeema R Lalani, Stephanie M Ware, Xueqing Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathiesChun-An Chen, John Lattier, Wenmiao Zhu, et al.
Pageof 13