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Carol Saunders

Showing results (31-40 of 60) with videos related to

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BMC Medical Genetics|March 11, 2018
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case reportMaxime Cadieux-Dion, Nicole P Safina, Kendra Engleman, et al.
Human Genetics|April 13, 2026
Correction: Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomaliesAdeline Jacquinet, Lydie Flasse, Manon Dohet, et al.
American Journal of Human Genetics|January 20, 2015
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaCarol Saunders, Laurie Smith, Flemming Wibrand, et al.
Journal of Clinical Medicine|March 21, 2020
Clinical, Immunological, and Functional Characterization of Six Patients with Very High IgM LevelsVera Gallo, Emilia Cirillo, Rosaria Prencipe, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|October 18, 2005
Clinical stringency greatly improves mutation detection in Rett syndromeJulie Gauthier, Giovana de Amorim, Gevork N Mnatzakanian, et al.
BMC Medical Genetics|May 8, 2015
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromesIsabelle Thiffault, Carol Saunders, Janda Jenkins, et al.
BMC Medical Genetics|November 23, 2016
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotypeFlorian Job, Shuji Mizumoto, Laurie Smith, et al.
Neurobiology of Disease|July 10, 2017
GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variantMichelle M Giddens, Jennifer C Wong, Jason P Schroeder, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 28, 2025
Rare variants in <i>BMAL1</i> are associated with a neurodevelopmental syndromeVishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, et al.
Neuromuscular Disorders : NMD|October 2, 2009
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophyKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, et al.
Pageof 6

Showing results (31-40 of 60) with videos related to

Sort By:
Pageof 6
BMC Medical Genetics|March 11, 2018
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case reportMaxime Cadieux-Dion, Nicole P Safina, Kendra Engleman, et al.
Human Genetics|April 13, 2026
Correction: Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomaliesAdeline Jacquinet, Lydie Flasse, Manon Dohet, et al.
American Journal of Human Genetics|January 20, 2015
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaCarol Saunders, Laurie Smith, Flemming Wibrand, et al.
Journal of Clinical Medicine|March 21, 2020
Clinical, Immunological, and Functional Characterization of Six Patients with Very High IgM LevelsVera Gallo, Emilia Cirillo, Rosaria Prencipe, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|October 18, 2005
Clinical stringency greatly improves mutation detection in Rett syndromeJulie Gauthier, Giovana de Amorim, Gevork N Mnatzakanian, et al.
BMC Medical Genetics|May 8, 2015
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromesIsabelle Thiffault, Carol Saunders, Janda Jenkins, et al.
BMC Medical Genetics|November 23, 2016
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotypeFlorian Job, Shuji Mizumoto, Laurie Smith, et al.
Neurobiology of Disease|July 10, 2017
GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variantMichelle M Giddens, Jennifer C Wong, Jason P Schroeder, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 28, 2025
Rare variants in <i>BMAL1</i> are associated with a neurodevelopmental syndromeVishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, et al.
Neuromuscular Disorders : NMD|October 2, 2009
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophyKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, et al.
Pageof 6