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Kym M Boycott

Showing results (41-50 of 239) with videos related to

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Molecular Genetics & Genomic Medicine|July 25, 2023
RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case reportAren E Marshall, Stella K MacDonald, Yijing Liang, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 24, 2018
The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®Taila Hartley, Tuğçe B Balcı, Samantha K Rojas, et al.
Molecular Genetics & Genomic Medicine|September 22, 2016
Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient careAlison Hamilton, Martine Tétreault, David A Dyment, et al.
American Journal of Medical Genetics. Part A|September 5, 2003
A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHDKym M Boycott, Malcolm I Parslow, Judith L Ross, et al.
Journal of Child Neurology|April 1, 2009
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)Kym M Boycott, Carsten Bonnemann, Joachim Herz, et al.
Journal of Neuromuscular Diseases|July 30, 2019
A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital OnsetMeredith K Gillespie, Hugh J McMillan, Kristin D Kernohan, et al.
American Journal of Medical Genetics. Part A|April 23, 2017
Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feetMelanie Lacaria, Myriam Srour, Jacques L Michaud, et al.
Journal of Human Genetics|October 31, 2023
Integrated omics analyses clarifies ATRX copy number variant of uncertain significanceAren E Marshall, Yijing Liang, Madeline Couse, et al.
Neurogenetics|February 27, 2016
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxiaYi-Hong Shao, Karine Choquet, Roberta La Piana, et al.
American Journal of Medical Genetics. Part A|September 17, 2016
A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) geneMałgorzata J M Nowaczyk, Lijia Huang, Mark Tarnopolsky, et al.
Pageof 24

Showing results (41-50 of 239) with videos related to

Sort By:
Pageof 24
Molecular Genetics & Genomic Medicine|July 25, 2023
RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case reportAren E Marshall, Stella K MacDonald, Yijing Liang, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 24, 2018
The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®Taila Hartley, Tuğçe B Balcı, Samantha K Rojas, et al.
Molecular Genetics & Genomic Medicine|September 22, 2016
Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient careAlison Hamilton, Martine Tétreault, David A Dyment, et al.
American Journal of Medical Genetics. Part A|September 5, 2003
A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHDKym M Boycott, Malcolm I Parslow, Judith L Ross, et al.
Journal of Child Neurology|April 1, 2009
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)Kym M Boycott, Carsten Bonnemann, Joachim Herz, et al.
Journal of Neuromuscular Diseases|July 30, 2019
A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital OnsetMeredith K Gillespie, Hugh J McMillan, Kristin D Kernohan, et al.
American Journal of Medical Genetics. Part A|April 23, 2017
Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feetMelanie Lacaria, Myriam Srour, Jacques L Michaud, et al.
Journal of Human Genetics|October 31, 2023
Integrated omics analyses clarifies ATRX copy number variant of uncertain significanceAren E Marshall, Yijing Liang, Madeline Couse, et al.
Neurogenetics|February 27, 2016
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxiaYi-Hong Shao, Karine Choquet, Roberta La Piana, et al.
American Journal of Medical Genetics. Part A|September 17, 2016
A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) geneMałgorzata J M Nowaczyk, Lijia Huang, Mark Tarnopolsky, et al.
Pageof 24