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Kym M Boycott

Showing results (131-140 of 239) with videos related to

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Human Molecular Genetics|September 20, 2021
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystoniaSophie Sleiman, Aren E Marshall, Xiaomin Dong, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Intronic <i>FGF14</i> GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment responseDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Orphanet Journal of Rare Diseases|November 28, 2012
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiencyHugh J McMillan, Thea Worthylake, Jeremy Schwartzentruber, et al.
European Journal of Human Genetics : EJHG|June 22, 2017
Yunis-Varón syndrome caused by biallelic VAC14 mutationsMatthew A Lines, Yoko Ito, Kristin D Kernohan, et al.
Investigative Ophthalmology & Visual Science|March 22, 2017
Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe ProgressionDaniel R Evans, Jane S Green, Gordon J Johnson, et al.
European Journal of Human Genetics : EJHG|November 26, 2015
DNM1L-related mitochondrial fission defect presenting as refractory epilepsyJason R Vanstone, Amanda M Smith, Skye McBride, et al.
Human Mutation|March 3, 2017
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsyKristin D Kernohan, Laure Frésard, Zachary Zappala, et al.
American Journal of Human Genetics|September 6, 2022
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disabilityYan Huang, Gabrielle Lemire, Lauren C Briere, et al.
American Journal of Human Genetics|January 26, 2010
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophiesVéronique Bolduc, Gareth Marlow, Kym M Boycott, et al.
Parkinsonism & Related Disorders|April 29, 2022
Genetic, structural and clinical analysis of spastic paraplegia 4Parizad Varghaei, Mehrdad A Estiar, Setareh Ashtiani, et al.
Pageof 24

Showing results (131-140 of 239) with videos related to

Sort By:
Pageof 24
Human Molecular Genetics|September 20, 2021
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystoniaSophie Sleiman, Aren E Marshall, Xiaomin Dong, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Intronic <i>FGF14</i> GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment responseDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Orphanet Journal of Rare Diseases|November 28, 2012
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiencyHugh J McMillan, Thea Worthylake, Jeremy Schwartzentruber, et al.
European Journal of Human Genetics : EJHG|June 22, 2017
Yunis-Varón syndrome caused by biallelic VAC14 mutationsMatthew A Lines, Yoko Ito, Kristin D Kernohan, et al.
Investigative Ophthalmology & Visual Science|March 22, 2017
Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe ProgressionDaniel R Evans, Jane S Green, Gordon J Johnson, et al.
European Journal of Human Genetics : EJHG|November 26, 2015
DNM1L-related mitochondrial fission defect presenting as refractory epilepsyJason R Vanstone, Amanda M Smith, Skye McBride, et al.
Human Mutation|March 3, 2017
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsyKristin D Kernohan, Laure Frésard, Zachary Zappala, et al.
American Journal of Human Genetics|September 6, 2022
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disabilityYan Huang, Gabrielle Lemire, Lauren C Briere, et al.
American Journal of Human Genetics|January 26, 2010
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophiesVéronique Bolduc, Gareth Marlow, Kym M Boycott, et al.
Parkinsonism & Related Disorders|April 29, 2022
Genetic, structural and clinical analysis of spastic paraplegia 4Parizad Varghaei, Mehrdad A Estiar, Setareh Ashtiani, et al.
Pageof 24