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Showing results (131-140 of 156) with videos related to

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Journal of the Neurological Sciences|February 1, 1991
Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studiesF Degoul, I Nelson, P Lestienne, et al.
Revue Neurologique|January 1, 1991
[Mitochondrial function and mitochondrial DNA in a series of 64 patients suspected of having mitochondrial myopathy]C Marsac, F Degoul, G Bonne, et al.
Human Molecular Genetics|February 1, 1995
Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha geneW Lissens, I Desguerre, C Benelli, et al.
Human Molecular Genetics|September 1, 1995
Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mappingS Nicole, C Ben Hamida, P Beighton, et al.
The Journal of Pediatrics|September 20, 2001
Interferon-beta treatment in patients with childhood-onset multiple sclerosisY Mikaeloff, T Moreau, M Debouverie, et al.
Journal of Medical Genetics|September 1, 1996
A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalitiesL Telvi, A Ion, J C Carel, et al.
Pediatric Research|December 1, 1994
Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathyL De Meirleir, W Lissens, C Benelli, et al.
Journal of Medical Genetics|August 28, 1999
Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndromeJ M Dupont, D Le Tessier, D Rabineau, et al.
Pediatric Research|March 1, 1993
E1 pyruvate dehydrogenase deficiency in a child with motor neuropathyG Bonne, C Benelli, L De Meirleir, et al.
American Journal of Human Genetics|April 1, 1997
A gene for dominant nonspecific X-linked mental retardation is located in Xq28V des Portes, P Billuart, A Carrié, et al.
Pageof 16

Showing results (131-140 of 156) with videos related to

Sort By:
Pageof 16
Journal of the Neurological Sciences|February 1, 1991
Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studiesF Degoul, I Nelson, P Lestienne, et al.
Revue Neurologique|January 1, 1991
[Mitochondrial function and mitochondrial DNA in a series of 64 patients suspected of having mitochondrial myopathy]C Marsac, F Degoul, G Bonne, et al.
Human Molecular Genetics|February 1, 1995
Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha geneW Lissens, I Desguerre, C Benelli, et al.
Human Molecular Genetics|September 1, 1995
Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mappingS Nicole, C Ben Hamida, P Beighton, et al.
The Journal of Pediatrics|September 20, 2001
Interferon-beta treatment in patients with childhood-onset multiple sclerosisY Mikaeloff, T Moreau, M Debouverie, et al.
Journal of Medical Genetics|September 1, 1996
A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalitiesL Telvi, A Ion, J C Carel, et al.
Pediatric Research|December 1, 1994
Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathyL De Meirleir, W Lissens, C Benelli, et al.
Journal of Medical Genetics|August 28, 1999
Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndromeJ M Dupont, D Le Tessier, D Rabineau, et al.
Pediatric Research|March 1, 1993
E1 pyruvate dehydrogenase deficiency in a child with motor neuropathyG Bonne, C Benelli, L De Meirleir, et al.
American Journal of Human Genetics|April 1, 1997
A gene for dominant nonspecific X-linked mental retardation is located in Xq28V des Portes, P Billuart, A Carrié, et al.
Pageof 16