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Movement Disorders : Official Journal of the Movement Disorder Society
|
October 31, 2017
Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism
Berivan Baskin, Lorraine V Kalia, Brenda L Banwell, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 14, 2018
Rationale for dopa-responsive CTNNB1/ß-catenin deficient dystonia
Judy Pipo-Deveza, Darcy Fehlings, David Chitayat, et al.
American Journal of Medical Genetics. Part A
|
December 21, 2013
Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy
Elaine Suk-Ying Goh, Brenda Banwell, Dimitri James Stavropoulos, et al.
Pediatric Radiology
|
September 17, 2013
Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a)
Almundher A Al-Maawali, Elka Miller, Andreas Schulze, et al.
Biochemical Genetics
|
November 8, 2017
DNM1L Variant Alters Baseline Mitochondrial Function and Response to Stress in a Patient with Severe Neurological Dysfunction
Kaley A Hogarth, Sheila R Costford, Grace Yoon, et al.
Journal of Child Neurology
|
February 10, 2015
Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy
Rudaina Banihani, Sharon Smile, Grace Yoon, et al.
Journal of Genetic Counseling
|
January 17, 2015
"Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors
Georgia C Lowe, Louise A Corben, Rony E Duncan, et al.
Neuromuscular Disorders : NMD
|
March 27, 2010
Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling
Nada Quercia, Gino R Somers, William Halliday, et al.
Burns : Journal of the International Society for Burn Injuries
|
November 25, 2017
Burn clinical trials: A systematic review of registration and publications
Sarthak Sinha, Grace Yoon, Wisoo Shin, et al.
Muscle & Nerve
|
July 2, 2017
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy
Hernan D Gonorazky, Kimberly Amburgey, Grace Yoon, et al.
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of 18
Search research articles
Search
Showing results (31-40 of 177) with videos related to
Sort By:
Page
of 18
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 31, 2017
Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism
Berivan Baskin, Lorraine V Kalia, Brenda L Banwell, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 14, 2018
Rationale for dopa-responsive CTNNB1/ß-catenin deficient dystonia
Judy Pipo-Deveza, Darcy Fehlings, David Chitayat, et al.
American Journal of Medical Genetics. Part A
|
December 21, 2013
Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy
Elaine Suk-Ying Goh, Brenda Banwell, Dimitri James Stavropoulos, et al.
Pediatric Radiology
|
September 17, 2013
Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a)
Almundher A Al-Maawali, Elka Miller, Andreas Schulze, et al.
Biochemical Genetics
|
November 8, 2017
DNM1L Variant Alters Baseline Mitochondrial Function and Response to Stress in a Patient with Severe Neurological Dysfunction
Kaley A Hogarth, Sheila R Costford, Grace Yoon, et al.
Journal of Child Neurology
|
February 10, 2015
Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy
Rudaina Banihani, Sharon Smile, Grace Yoon, et al.
Journal of Genetic Counseling
|
January 17, 2015
"Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors
Georgia C Lowe, Louise A Corben, Rony E Duncan, et al.
Neuromuscular Disorders : NMD
|
March 27, 2010
Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling
Nada Quercia, Gino R Somers, William Halliday, et al.
Burns : Journal of the International Society for Burn Injuries
|
November 25, 2017
Burn clinical trials: A systematic review of registration and publications
Sarthak Sinha, Grace Yoon, Wisoo Shin, et al.
Muscle & Nerve
|
July 2, 2017
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy
Hernan D Gonorazky, Kimberly Amburgey, Grace Yoon, et al.
Page
of 18