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Neurology. Genetics
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July 2, 2020
A splice variant in <i>ATAD3A</i> expands the clinical and genetic spectrum of Harel-Yoon syndrome
Ilana Hanes, Hugh J McMillan, Yoko Ito, et al.
European Journal of Medical Genetics
|
October 26, 2017
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature
Danielle K Bourque, Taila Hartley, Sarah M Nikkel, et al.
BMJ (Clinical Research Ed.)
|
December 9, 2004
Timing of birth and risk of multiple sclerosis: population based study
Cristen J Willer, David A Dyment, A Dessa Sadovnick, 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 care
Alison Hamilton, Martine Tétreault, David A Dyment, et al.
Journal of Neurology
|
October 2, 2009
Mother-child blood group incompatibility and the risk of multiple sclerosis
Sreeram V Ramagopalan, David A Dyment, Colleen Guimond, et al.
Journal of the Neurological Sciences
|
January 26, 2010
Childhood cow's milk allergy and the risk of multiple sclerosis: a population based study
Sreeram V Ramagopalan, David A Dyment, Colleen Guimond, et al.
The Lancet. Neurology
|
February 17, 2007
Clustering of autoimmune disease in families at high risk for multiple sclerosis?
Sreeram V Ramagopalan, David A Dyment, Blanca M Herrera, et al.
Journal of Human Genetics
|
October 31, 2023
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
Aren E Marshall, Yijing Liang, Madeline Couse, et al.
Neuromuscular Disorders : NMD
|
August 24, 2015
Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2
Justin D Wagner, Lijia Huang, Martine Tetreault, et al.
Page
of 12
Search research articles
Search
Showing results (31-40 of 120) with videos related to
Sort By:
Page
of 12
Neurology. Genetics
|
July 2, 2020
A splice variant in <i>ATAD3A</i> expands the clinical and genetic spectrum of Harel-Yoon syndrome
Ilana Hanes, Hugh J McMillan, Yoko Ito, et al.
European Journal of Medical Genetics
|
October 26, 2017
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature
Danielle K Bourque, Taila Hartley, Sarah M Nikkel, et al.
BMJ (Clinical Research Ed.)
|
December 9, 2004
Timing of birth and risk of multiple sclerosis: population based study
Cristen J Willer, David A Dyment, A Dessa Sadovnick, 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 care
Alison Hamilton, Martine Tétreault, David A Dyment, et al.
Journal of Neurology
|
October 2, 2009
Mother-child blood group incompatibility and the risk of multiple sclerosis
Sreeram V Ramagopalan, David A Dyment, Colleen Guimond, et al.
Journal of the Neurological Sciences
|
January 26, 2010
Childhood cow's milk allergy and the risk of multiple sclerosis: a population based study
Sreeram V Ramagopalan, David A Dyment, Colleen Guimond, et al.
The Lancet. Neurology
|
February 17, 2007
Clustering of autoimmune disease in families at high risk for multiple sclerosis?
Sreeram V Ramagopalan, David A Dyment, Blanca M Herrera, et al.
Journal of Human Genetics
|
October 31, 2023
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
Aren E Marshall, Yijing Liang, Madeline Couse, et al.
Neuromuscular Disorders : NMD
|
August 24, 2015
Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2
Justin D Wagner, Lijia Huang, Martine Tetreault, et al.
Page
of 12