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Neuropediatrics
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April 12, 2003
Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia
E Miossec-Chauvet, Y Mikaeloff, D Heron, et al.
American Journal of Medical Genetics
|
October 23, 1997
Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24
V des Portes, N Soufir, A Carrié, et al.
Nucleic Acids Research
|
October 25, 1989
Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome
I Nelson, F Degoul, B Obermaier-Kusser, et al.
Acta Neuropathologica
|
May 20, 1999
Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases
D Rodriguez, A Gelot, B della Gaspera, et al.
Clinical Genetics
|
June 4, 1998
Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation
V des Portes, A Carrié, P Billuart, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
September 11, 2002
[Optic pathway gliomas in neurofibromatosis type I. Longitudinal study of 30 cases in two multidisciplinary practices]
Y Mikaeloff, Y Chaix, J Grill, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1998
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
D Rabier, C Diry, A Rotig, et al.
Human Genetics
|
June 1, 1997
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency
C Marsac, C Benelli, I Desguerre, et al.
Neurology
|
July 25, 2007
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families
S Passemard, A Gelot, A Fogli, et al.
Human Molecular Genetics
|
June 9, 1998
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)
V des Portes, F Francis, J M Pinard, et al.
Page
of 16
Search research articles
Search
Showing results (141-150 of 156) with videos related to
Sort By:
Page
of 16
Neuropediatrics
|
April 12, 2003
Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia
E Miossec-Chauvet, Y Mikaeloff, D Heron, et al.
American Journal of Medical Genetics
|
October 23, 1997
Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24
V des Portes, N Soufir, A Carrié, et al.
Nucleic Acids Research
|
October 25, 1989
Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome
I Nelson, F Degoul, B Obermaier-Kusser, et al.
Acta Neuropathologica
|
May 20, 1999
Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases
D Rodriguez, A Gelot, B della Gaspera, et al.
Clinical Genetics
|
June 4, 1998
Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation
V des Portes, A Carrié, P Billuart, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
September 11, 2002
[Optic pathway gliomas in neurofibromatosis type I. Longitudinal study of 30 cases in two multidisciplinary practices]
Y Mikaeloff, Y Chaix, J Grill, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1998
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
D Rabier, C Diry, A Rotig, et al.
Human Genetics
|
June 1, 1997
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency
C Marsac, C Benelli, I Desguerre, et al.
Neurology
|
July 25, 2007
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families
S Passemard, A Gelot, A Fogli, et al.
Human Molecular Genetics
|
June 9, 1998
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)
V des Portes, F Francis, J M Pinard, et al.
Page
of 16