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Kym M Boycott

Showing results (121-130 of 239) with videos related to

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European Journal of Human Genetics : EJHG|June 2, 2011
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)Christine M Armour, Dennis E Bulman, Olga Jarinova, et al.
Journal of Inherited Metabolic Disease|March 22, 2018
A family segregating lethal neonatal coenzyme Q<sub>10</sub> deficiency caused by mutations in COQ9Amanda C Smith, Yoko Ito, Afsana Ahmed, et al.
American Journal of Human Genetics|January 6, 2018
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental SyndromesErfan Aref-Eshghi, David I Rodenhiser, Laila C Schenkel, et al.
American Journal of Medical Genetics. Part A|July 3, 2007
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndromeKym M Boycott, Jillian S Parboosingh, James N Scott, et al.
Genetics|June 20, 2020
Electrophysiological Alterations of Pyramidal Cells and Interneurons of the CA1 Region of the Hippocampus in a Novel Mouse Model of Dravet SyndromeDavid A Dyment, Sarah C Schock, Kristen Deloughery, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2024
The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validityRobin Z Hayeems, Stephanie Luca, Bowen Xiao, et al.
American Journal of Medical Genetics. Part A|December 22, 2023
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual developmentGiulia F Del Gobbo, Xueqi Wang, Madeline Couse, et al.
Movement Disorders Clinical Practice|November 9, 2020
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar AtrophyLaurence Gauquelin, Taila Hartley, Mark Tarnopolsky, et al.
Ebiomedicine|March 20, 2024
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
Intellectual disability associated with a homozygous missense mutation in THOC6Chandree L Beaulieu, Lijia Huang, A Micheil Innes, et al.
Pageof 24

Showing results (121-130 of 239) with videos related to

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Pageof 24
European Journal of Human Genetics : EJHG|June 2, 2011
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)Christine M Armour, Dennis E Bulman, Olga Jarinova, et al.
Journal of Inherited Metabolic Disease|March 22, 2018
A family segregating lethal neonatal coenzyme Q<sub>10</sub> deficiency caused by mutations in COQ9Amanda C Smith, Yoko Ito, Afsana Ahmed, et al.
American Journal of Human Genetics|January 6, 2018
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental SyndromesErfan Aref-Eshghi, David I Rodenhiser, Laila C Schenkel, et al.
American Journal of Medical Genetics. Part A|July 3, 2007
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndromeKym M Boycott, Jillian S Parboosingh, James N Scott, et al.
Genetics|June 20, 2020
Electrophysiological Alterations of Pyramidal Cells and Interneurons of the CA1 Region of the Hippocampus in a Novel Mouse Model of Dravet SyndromeDavid A Dyment, Sarah C Schock, Kristen Deloughery, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2024
The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validityRobin Z Hayeems, Stephanie Luca, Bowen Xiao, et al.
American Journal of Medical Genetics. Part A|December 22, 2023
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual developmentGiulia F Del Gobbo, Xueqi Wang, Madeline Couse, et al.
Movement Disorders Clinical Practice|November 9, 2020
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar AtrophyLaurence Gauquelin, Taila Hartley, Mark Tarnopolsky, et al.
Ebiomedicine|March 20, 2024
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
Intellectual disability associated with a homozygous missense mutation in THOC6Chandree L Beaulieu, Lijia Huang, A Micheil Innes, et al.
Pageof 24