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American Journal of Medical Genetics. Part A
|
April 21, 2004
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
Bwee Tien Poll-The, Jeannette Gootjes, Marinus Duran, et al.
Brain Imaging and Behavior
|
January 17, 2017
Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injury
Marsh Königs, Petra Jw Pouwels, L W Ernest van Heurn, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 14, 2008
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease
Sacha Ferdinandusse, Anna W M Zomer, Jasper C Komen, et al.
Brain : a Journal of Neurology
|
August 11, 2007
Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance
Peter G Barth, Charles B Majoie, Matthan W A Caan, et al.
Pediatric Neurology
|
March 21, 2016
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum
Clara D M van Karnebeek, Sylvia A Tiebout, Jikkemien Niermeijer, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
June 17, 2010
Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid
Sanne Piepers, Jan-Maarten Cobben, Peter Sodaar, et al.
Stroke
|
January 20, 2009
Cerebral blood flow measurement in children with sickle cell disease using continuous arterial spin labeling at 3.0-Tesla MRI
Xandra W van den Tweel, Aart J Nederveen, Charles B L M Majoie, et al.
Annals of Neurology
|
November 10, 2005
Clinical and biochemical spectrum of D-bifunctional protein deficiency
Sacha Ferdinandusse, Simone Denis, Petra A W Mooyer, et al.
Epilepsia
|
October 5, 2010
The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy
Levinus A Bok, Natasha M Maurits, Michèl A Willemsen, et al.
European Journal of Human Genetics : EJHG
|
August 10, 2018
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis
Tessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, et al.
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of 10
Search research articles
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Showing results (71-80 of 96) with videos related to
Sort By:
Page
of 10
American Journal of Medical Genetics. Part A
|
April 21, 2004
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
Bwee Tien Poll-The, Jeannette Gootjes, Marinus Duran, et al.
Brain Imaging and Behavior
|
January 17, 2017
Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injury
Marsh Königs, Petra Jw Pouwels, L W Ernest van Heurn, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 14, 2008
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease
Sacha Ferdinandusse, Anna W M Zomer, Jasper C Komen, et al.
Brain : a Journal of Neurology
|
August 11, 2007
Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance
Peter G Barth, Charles B Majoie, Matthan W A Caan, et al.
Pediatric Neurology
|
March 21, 2016
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum
Clara D M van Karnebeek, Sylvia A Tiebout, Jikkemien Niermeijer, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
June 17, 2010
Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid
Sanne Piepers, Jan-Maarten Cobben, Peter Sodaar, et al.
Stroke
|
January 20, 2009
Cerebral blood flow measurement in children with sickle cell disease using continuous arterial spin labeling at 3.0-Tesla MRI
Xandra W van den Tweel, Aart J Nederveen, Charles B L M Majoie, et al.
Annals of Neurology
|
November 10, 2005
Clinical and biochemical spectrum of D-bifunctional protein deficiency
Sacha Ferdinandusse, Simone Denis, Petra A W Mooyer, et al.
Epilepsia
|
October 5, 2010
The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy
Levinus A Bok, Natasha M Maurits, Michèl A Willemsen, et al.
European Journal of Human Genetics : EJHG
|
August 10, 2018
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis
Tessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, et al.
Page
of 10