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JIMD Reports
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May 17, 2017
Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency
F Habarou, N Bahi-Buisson, E Lebigot, et al.
Molecular Genetics and Metabolism
|
October 24, 2007
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency
N Boddaert, S Romano, B Funalot, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 3, 2024
Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial
J Downs, P Jacoby, N Specchio, et al.
Epilepsy & Behavior : E&B
|
March 4, 2017
Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues
R Nabbout, D M Andrade, N Bahi-Buisson, et al.
Journal of Neuroradiology = Journal De Neuroradiologie
|
April 10, 2010
Posterior fossa imaging in 158 children with ataxia
N Boddaert, I Desguerre, N Bahi-Buisson, et al.
AJNR. American Journal of Neuroradiology
|
December 24, 2021
Feasibility and Added Value of Fetal DTI Tractography in the Evaluation of an Isolated Short Corpus Callosum: Preliminary Results
A-E Millischer, D Grevent, P Sonigo, et al.
European Journal of Medical Genetics
|
November 5, 2018
Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome
B Deloison, P Sonigo, A E Millischer-Bellaiche, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
January 17, 2012
[Diagnostic investigations for an unexplained developmental disability]
A Verloes, D Héron, T Billette de Villemeur, et al.
Journal of Medical Genetics
|
July 7, 2009
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
M A Mencarelli, A Spanhol-Rosseto, R Artuso, et al.
Journal of Medical Genetics
|
August 30, 2008
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
N Bahi-Buisson, K Poirier, N Boddaert, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 44) with videos related to
Sort By:
Page
of 5
JIMD Reports
|
May 17, 2017
Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency
F Habarou, N Bahi-Buisson, E Lebigot, et al.
Molecular Genetics and Metabolism
|
October 24, 2007
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency
N Boddaert, S Romano, B Funalot, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 3, 2024
Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial
J Downs, P Jacoby, N Specchio, et al.
Epilepsy & Behavior : E&B
|
March 4, 2017
Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues
R Nabbout, D M Andrade, N Bahi-Buisson, et al.
Journal of Neuroradiology = Journal De Neuroradiologie
|
April 10, 2010
Posterior fossa imaging in 158 children with ataxia
N Boddaert, I Desguerre, N Bahi-Buisson, et al.
AJNR. American Journal of Neuroradiology
|
December 24, 2021
Feasibility and Added Value of Fetal DTI Tractography in the Evaluation of an Isolated Short Corpus Callosum: Preliminary Results
A-E Millischer, D Grevent, P Sonigo, et al.
European Journal of Medical Genetics
|
November 5, 2018
Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome
B Deloison, P Sonigo, A E Millischer-Bellaiche, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
January 17, 2012
[Diagnostic investigations for an unexplained developmental disability]
A Verloes, D Héron, T Billette de Villemeur, et al.
Journal of Medical Genetics
|
July 7, 2009
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
M A Mencarelli, A Spanhol-Rosseto, R Artuso, et al.
Journal of Medical Genetics
|
August 30, 2008
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
N Bahi-Buisson, K Poirier, N Boddaert, et al.
Page
of 5