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David R Adams

Showing results (191-200 of 207) with videos related to

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American Journal of Human Genetics|November 8, 2018
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental DelayMarie Morimoto, Helen Waller-Evans, Zineb Ammous, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
Cell|November 26, 2013
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathwayChristian Praetorius, Christine Grill, Simon N Stacey, et al.
Journal of Medical Genetics|July 5, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylationShino Shimada, Bobby G Ng, Amy L White, et al.
The New England Journal of Medicine|October 11, 2018
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed DiseaseKimberly Splinter, David R Adams, Carlos A Bacino, et al.
American Journal of Human Genetics|March 25, 2023
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesisF Graeme Frost, Marie Morimoto, Prashant Sharma, et al.
American Journal of Human Genetics|August 6, 2024
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorderMarie Morimoto, Eunjin Ryu, Benjamin J Steger, et al.
Rare (Amsterdam, Netherlands)|October 18, 2024
Dual diagnosis of <i>UQCRFS1</i>-related mitochondrial complex III deficiency and recessive <i>GJA8</i>-related cataractsElizabeth E Blue, Samuel J Huang, Alyna Khan, et al.
Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotideSarah Silverstein, Andrew D Nguyen, Rotem Orbach, et al.
Pageof 21

Showing results (191-200 of 207) with videos related to

Sort By:
Pageof 21
American Journal of Human Genetics|November 8, 2018
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental DelayMarie Morimoto, Helen Waller-Evans, Zineb Ammous, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
Cell|November 26, 2013
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathwayChristian Praetorius, Christine Grill, Simon N Stacey, et al.
Journal of Medical Genetics|July 5, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylationShino Shimada, Bobby G Ng, Amy L White, et al.
The New England Journal of Medicine|October 11, 2018
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed DiseaseKimberly Splinter, David R Adams, Carlos A Bacino, et al.
American Journal of Human Genetics|March 25, 2023
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesisF Graeme Frost, Marie Morimoto, Prashant Sharma, et al.
American Journal of Human Genetics|August 6, 2024
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorderMarie Morimoto, Eunjin Ryu, Benjamin J Steger, et al.
Rare (Amsterdam, Netherlands)|October 18, 2024
Dual diagnosis of <i>UQCRFS1</i>-related mitochondrial complex III deficiency and recessive <i>GJA8</i>-related cataractsElizabeth E Blue, Samuel J Huang, Alyna Khan, et al.
Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotideSarah Silverstein, Andrew D Nguyen, Rotem Orbach, et al.
Pageof 21