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Kym M Boycott

Showing results (171-180 of 239) with videos related to

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Journal of Neurology|September 20, 2025
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohortPablo Iruzubieta, David Pellerin, Catherine Ashton, et al.
American Journal of Medical Genetics. Part A|November 10, 2023
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approachLeanne de Kock, Alexanne Cuillerier, Meredith Gillespie, et al.
Neurology. Genetics|April 20, 2023
Novel Homozygous Variant in <i>COQ7</i> in Siblings With Hereditary Motor NeuropathyIan C Smith, Chantal A Pileggi, Ying Wang, et al.
Human Mutation|February 11, 2017
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) geneKristin D Kernohan, David A Dyment, Mihaela Pupavac, et al.
BMJ Open|August 10, 2025
TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticistKaitlin J Stanley, Caitlin Chisholm, Meredith K Gillespie, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humansRanad Shaheen, Hanan E Shamseldin, Catrina M Loucks, et al.
American Journal of Human Genetics|December 7, 2015
SLC39A8 Deficiency: A Disorder of Manganese Transport and GlycosylationJulien H Park, Max Hogrebe, Marianne Grüneberg, et al.
American Journal of Human Genetics|June 7, 2014
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery projectChandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, et al.
American Journal of Human Genetics|November 3, 2018
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality DefectsSerge Bonnefoy, Christopher M Watson, Kristin D Kernohan, et al.
Nature|August 23, 2011
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementiaHan-Xiang Deng, Wenjie Chen, Seong-Tshool Hong, et al.
Pageof 24

Showing results (171-180 of 239) with videos related to

Sort By:
Pageof 24
Journal of Neurology|September 20, 2025
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohortPablo Iruzubieta, David Pellerin, Catherine Ashton, et al.
American Journal of Medical Genetics. Part A|November 10, 2023
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approachLeanne de Kock, Alexanne Cuillerier, Meredith Gillespie, et al.
Neurology. Genetics|April 20, 2023
Novel Homozygous Variant in <i>COQ7</i> in Siblings With Hereditary Motor NeuropathyIan C Smith, Chantal A Pileggi, Ying Wang, et al.
Human Mutation|February 11, 2017
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) geneKristin D Kernohan, David A Dyment, Mihaela Pupavac, et al.
BMJ Open|August 10, 2025
TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticistKaitlin J Stanley, Caitlin Chisholm, Meredith K Gillespie, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humansRanad Shaheen, Hanan E Shamseldin, Catrina M Loucks, et al.
American Journal of Human Genetics|December 7, 2015
SLC39A8 Deficiency: A Disorder of Manganese Transport and GlycosylationJulien H Park, Max Hogrebe, Marianne Grüneberg, et al.
American Journal of Human Genetics|June 7, 2014
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery projectChandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, et al.
American Journal of Human Genetics|November 3, 2018
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality DefectsSerge Bonnefoy, Christopher M Watson, Kristin D Kernohan, et al.
Nature|August 23, 2011
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementiaHan-Xiang Deng, Wenjie Chen, Seong-Tshool Hong, et al.
Pageof 24