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Lynne Wolfe

Showing results (1-10 of 42) with videos related to

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Hospitals & Health Networks|November 23, 2013
A $50 million questionLynne Wolfe
Hospitals & Health Networks|August 12, 2010
Grown-ups, quit wallowingLynne Wolfe
Journal of Genetic Counseling|January 19, 2024
Genetic counseling for congenital disorders of glycosylation (CDG)Tara Weixel, Lynne Wolfe, Ellen F Macnamara
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2025
Biochemical testing for congenital disorders of glycosylation: A technical standard of the American College of Medical Genetics and Genomics (ACMG)Patricia L Hall, Christina Lam, Lynne Wolfe, et al.
Journal of Inherited Metabolic Disease|August 6, 2024
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG)Tara Weixel, Dee Adedipe, Glennis Muldoon, et al.
Molecular Genetics and Metabolism Reports|April 22, 2014
Two novel compound heterozygous mutations in <i>OPA3</i> in two siblings with OPA3-related 3-methylglutaconic aciduriaChristina Lam, Linda K Gallo, Richard Dineen, et al.
American Journal of Medical Genetics. Part A|December 21, 2022
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndromeRyan H Peretz, Wadih M Zein, Robert B Hufnagel, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
A patient with multisystem dysfunction carries a truncation mutation in human <i>SLC12A2</i>, the gene encoding the Na-K-2Cl cotransporter, NKCC1Eric Delpire, Lynne Wolfe, Bianca Flores, et al.
Rare (Amsterdam, Netherlands)|February 24, 2025
Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage DisorderMarya S Sabir, Lynne Wolfe, David R Adams, et al.
Channels (Austin, Tex.)|August 11, 2025
BK channel activity in skin fibroblasts from patients with neurological disorderRia L Dinsdale, Thomas R Middendorf, Deborah Disilvestre, et al.
Pageof 5

Showing results (1-10 of 42) with videos related to

Sort By:
Pageof 5
Hospitals & Health Networks|November 23, 2013
A $50 million questionLynne Wolfe
Hospitals & Health Networks|August 12, 2010
Grown-ups, quit wallowingLynne Wolfe
Journal of Genetic Counseling|January 19, 2024
Genetic counseling for congenital disorders of glycosylation (CDG)Tara Weixel, Lynne Wolfe, Ellen F Macnamara
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2025
Biochemical testing for congenital disorders of glycosylation: A technical standard of the American College of Medical Genetics and Genomics (ACMG)Patricia L Hall, Christina Lam, Lynne Wolfe, et al.
Journal of Inherited Metabolic Disease|August 6, 2024
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG)Tara Weixel, Dee Adedipe, Glennis Muldoon, et al.
Molecular Genetics and Metabolism Reports|April 22, 2014
Two novel compound heterozygous mutations in <i>OPA3</i> in two siblings with OPA3-related 3-methylglutaconic aciduriaChristina Lam, Linda K Gallo, Richard Dineen, et al.
American Journal of Medical Genetics. Part A|December 21, 2022
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndromeRyan H Peretz, Wadih M Zein, Robert B Hufnagel, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
A patient with multisystem dysfunction carries a truncation mutation in human <i>SLC12A2</i>, the gene encoding the Na-K-2Cl cotransporter, NKCC1Eric Delpire, Lynne Wolfe, Bianca Flores, et al.
Rare (Amsterdam, Netherlands)|February 24, 2025
Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage DisorderMarya S Sabir, Lynne Wolfe, David R Adams, et al.
Channels (Austin, Tex.)|August 11, 2025
BK channel activity in skin fibroblasts from patients with neurological disorderRia L Dinsdale, Thomas R Middendorf, Deborah Disilvestre, et al.
Pageof 5