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European Journal of Medical Genetics
|
May 17, 2015
Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A
Tugce B Balci, Sarah L Sawyer, Jorge Davila, et al.
Current Neurology and Neuroscience Reports
|
August 21, 2015
Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing
Jodi Warman Chardon, Chandree Beaulieu, Taila Hartley, et al.
Genes
|
May 28, 2022
The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies
Heather Leduc-Pessah, Alexandre White-Brown, Taila Hartley, et al.
Genes
|
January 21, 2023
A De Novo Missense Variant in <i>TUBG2</i> in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria
Salini Thulasirajah, Xueqi Wang, Erick Sell, et al.
Journal of Human Genetics
|
January 9, 2010
A genome-wide scan of male sexual orientation
Sreeram V Ramagopalan, David A Dyment, Lahiru Handunnetthi, et al.
Journal of Human Genetics
|
July 4, 2018
Periodic breathing in patients with NALCN mutations
Danielle K Bourque, David A Dyment, Ian MacLusky, et al.
Annals of Neurology
|
May 4, 2010
HLA-DRB1*15, low infant sibling exposure, and multiple sclerosis gene-environment interaction
Sreeram V Ramagopalan, David A Dyment, Gavin Giovannoni, et al.
American Journal of Medical Genetics. Part A
|
September 23, 2025
A Noncanonical Splice Variant in RTEL1 Responsible for Familial Pulmonary Fibrosis
Alexandre White-Brown, Aren Marshall, Xueqi Wang, et al.
BMC Medical Genetics
|
February 29, 2016
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature
Stephanie M Luco, Daniela Pohl, Erick Sell, et al.
Annual Review of Medicine
|
January 16, 2014
Identification of genes for childhood heritable diseases
Kym M Boycott, David A Dyment, Sarah L Sawyer, et al.
Page
of 12
Search research articles
Search
Showing results (11-20 of 120) with videos related to
Sort By:
Page
of 12
European Journal of Medical Genetics
|
May 17, 2015
Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A
Tugce B Balci, Sarah L Sawyer, Jorge Davila, et al.
Current Neurology and Neuroscience Reports
|
August 21, 2015
Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing
Jodi Warman Chardon, Chandree Beaulieu, Taila Hartley, et al.
Genes
|
May 28, 2022
The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies
Heather Leduc-Pessah, Alexandre White-Brown, Taila Hartley, et al.
Genes
|
January 21, 2023
A De Novo Missense Variant in <i>TUBG2</i> in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria
Salini Thulasirajah, Xueqi Wang, Erick Sell, et al.
Journal of Human Genetics
|
January 9, 2010
A genome-wide scan of male sexual orientation
Sreeram V Ramagopalan, David A Dyment, Lahiru Handunnetthi, et al.
Journal of Human Genetics
|
July 4, 2018
Periodic breathing in patients with NALCN mutations
Danielle K Bourque, David A Dyment, Ian MacLusky, et al.
Annals of Neurology
|
May 4, 2010
HLA-DRB1*15, low infant sibling exposure, and multiple sclerosis gene-environment interaction
Sreeram V Ramagopalan, David A Dyment, Gavin Giovannoni, et al.
American Journal of Medical Genetics. Part A
|
September 23, 2025
A Noncanonical Splice Variant in RTEL1 Responsible for Familial Pulmonary Fibrosis
Alexandre White-Brown, Aren Marshall, Xueqi Wang, et al.
BMC Medical Genetics
|
February 29, 2016
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature
Stephanie M Luco, Daniela Pohl, Erick Sell, et al.
Annual Review of Medicine
|
January 16, 2014
Identification of genes for childhood heritable diseases
Kym M Boycott, David A Dyment, Sarah L Sawyer, et al.
Page
of 12