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Lynne Wolfe

Showing results (31-40 of 42) with videos related to

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EMBO Molecular Medicine|April 4, 2023
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stabilityDirenis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, et al.
American Journal of Human Genetics|July 3, 2018
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic FeaturesMari J Tokita, Chun-An Chen, David Chitayat, et al.
The New England Journal of Medicine|April 11, 2014
Glycosylation, hypogammaglobulinemia, and resistance to viral infectionsMohammed A Sadat, Susan Moir, Tae-Wook Chun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation studyLucy Loong, Agostina Tardivo, Alexej Knaus, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2020
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2021
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, 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.
Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.
The Journal of Clinical Investigation|November 13, 2019
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN diseaseJuan C Ravell, Mami Matsuda-Lennikov, Samuel D Chauvin, et al.
Epilepsia|February 18, 2022
PIGN encephalopathy: Characterizing the epileptologyAllan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, et al.
Pageof 5

Showing results (31-40 of 42) with videos related to

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Pageof 5
EMBO Molecular Medicine|April 4, 2023
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stabilityDirenis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, et al.
American Journal of Human Genetics|July 3, 2018
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic FeaturesMari J Tokita, Chun-An Chen, David Chitayat, et al.
The New England Journal of Medicine|April 11, 2014
Glycosylation, hypogammaglobulinemia, and resistance to viral infectionsMohammed A Sadat, Susan Moir, Tae-Wook Chun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation studyLucy Loong, Agostina Tardivo, Alexej Knaus, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2020
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2021
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, 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.
Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.
The Journal of Clinical Investigation|November 13, 2019
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN diseaseJuan C Ravell, Mami Matsuda-Lennikov, Samuel D Chauvin, et al.
Epilepsia|February 18, 2022
PIGN encephalopathy: Characterizing the epileptologyAllan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, et al.
Pageof 5