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Neuromuscular Disorders : NMD
|
April 10, 2013
Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands
Xenia L Stalpers, Aad Verrips, Bwee Tien Poll-The, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
June 18, 2019
Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder
Kevin Berendse, Maxim Boek, Marion Gijbels, et al.
Stroke
|
June 5, 2010
Neonatal cerebral sinovenous thrombosis from symptom to outcome
Florieke J Berfelo, Karina J Kersbergen, C H Heleen van Ommen, et al.
Advances in Experimental Medicine and Biology
|
January 10, 2004
Peroxisome mosaics
Frank Roels, Jean-Marie Saudubray, Marisa Giros, et al.
Neuropsychology
|
September 30, 2016
Pediatric traumatic brain injury affects multisensory integration
Marsh Königs, Wouter D Weeda, L W Ernest van Heurn, et al.
Brain : a Journal of Neurology
|
November 30, 2017
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy
Cas Simons, David Dyment, Stephen J Bent, et al.
Orphanet Journal of Rare Diseases
|
April 11, 2013
Genetic basis of hyperlysinemia
Sander M Houten, Heleen Te Brinke, Simone Denis, et al.
Journal of Inherited Metabolic Disease
|
July 30, 2016
Cholic acid therapy in Zellweger spectrum disorders
Kevin Berendse, Femke C C Klouwer, Bart G P Koot, et al.
Journal of Inherited Metabolic Disease
|
February 23, 2019
The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy
Femke C C Klouwer, Bart G P Koot, Kevin Berendse, et al.
Brain : a Journal of Neurology
|
February 1, 2013
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy
Marian A J Weterman, Peter G Barth, Karin Y van Spaendonck-Zwarts, et al.
Page
of 10
Search research articles
Search
Showing results (81-90 of 96) with videos related to
Sort By:
Page
of 10
Neuromuscular Disorders : NMD
|
April 10, 2013
Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands
Xenia L Stalpers, Aad Verrips, Bwee Tien Poll-The, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
June 18, 2019
Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder
Kevin Berendse, Maxim Boek, Marion Gijbels, et al.
Stroke
|
June 5, 2010
Neonatal cerebral sinovenous thrombosis from symptom to outcome
Florieke J Berfelo, Karina J Kersbergen, C H Heleen van Ommen, et al.
Advances in Experimental Medicine and Biology
|
January 10, 2004
Peroxisome mosaics
Frank Roels, Jean-Marie Saudubray, Marisa Giros, et al.
Neuropsychology
|
September 30, 2016
Pediatric traumatic brain injury affects multisensory integration
Marsh Königs, Wouter D Weeda, L W Ernest van Heurn, et al.
Brain : a Journal of Neurology
|
November 30, 2017
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy
Cas Simons, David Dyment, Stephen J Bent, et al.
Orphanet Journal of Rare Diseases
|
April 11, 2013
Genetic basis of hyperlysinemia
Sander M Houten, Heleen Te Brinke, Simone Denis, et al.
Journal of Inherited Metabolic Disease
|
July 30, 2016
Cholic acid therapy in Zellweger spectrum disorders
Kevin Berendse, Femke C C Klouwer, Bart G P Koot, et al.
Journal of Inherited Metabolic Disease
|
February 23, 2019
The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy
Femke C C Klouwer, Bart G P Koot, Kevin Berendse, et al.
Brain : a Journal of Neurology
|
February 1, 2013
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy
Marian A J Weterman, Peter G Barth, Karin Y van Spaendonck-Zwarts, et al.
Page
of 10