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A Munnich

Showing results (291-300 of 426) with videos related to

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Lancet (London, England)|September 6, 2000
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiencyA Rötig, E L Appelkvist, V Geromel, et al.
American Journal of Human Genetics|May 12, 2001
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiencyP Bénit, D Chretien, N Kadhom, et al.
Human Mutation|May 2, 2008
Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlationC Crétolle, A Pelet, D Sanlaville, et al.
Journal of Medical Genetics|May 6, 2014
Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlationsM Bricout, D Grévent, A S Lebre, et al.
Vision Research|April 22, 1999
Exclusion of the apoE gene in autosomal dominant retinitis pigmentosaE H Souied, P Benlian, J M Rozet, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|February 24, 2009
[Clinical variability and diagnosis steps in childhood mitochondrial disease]S Mercier, M Josselin de Wasch, F Labarthe, et al.
American Journal of Medical Genetics|December 18, 1996
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis associationM Bahuau, W Flintoff, B Assouline, et al.
Neuropediatrics|May 1, 1999
Respiratory chain deficiency presenting as recurrent myoglobinuria in childhoodP de Lonlay-Debeney, P Edery, V Cormier-Daire, et al.
Human Molecular Genetics|April 18, 2000
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiencyI Valnot, J C von Kleist-Retzow, A Barrientos, et al.
Prenatal Diagnosis|October 19, 2005
Gorlin syndrome presenting as prenatal chylothorax in a girlD Geneviève, E Walter, P Gorry, et al.
Pageof 43

Showing results (291-300 of 426) with videos related to

Sort By:
Pageof 43
Lancet (London, England)|September 6, 2000
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiencyA Rötig, E L Appelkvist, V Geromel, et al.
American Journal of Human Genetics|May 12, 2001
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiencyP Bénit, D Chretien, N Kadhom, et al.
Human Mutation|May 2, 2008
Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlationC Crétolle, A Pelet, D Sanlaville, et al.
Journal of Medical Genetics|May 6, 2014
Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlationsM Bricout, D Grévent, A S Lebre, et al.
Vision Research|April 22, 1999
Exclusion of the apoE gene in autosomal dominant retinitis pigmentosaE H Souied, P Benlian, J M Rozet, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|February 24, 2009
[Clinical variability and diagnosis steps in childhood mitochondrial disease]S Mercier, M Josselin de Wasch, F Labarthe, et al.
American Journal of Medical Genetics|December 18, 1996
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis associationM Bahuau, W Flintoff, B Assouline, et al.
Neuropediatrics|May 1, 1999
Respiratory chain deficiency presenting as recurrent myoglobinuria in childhoodP de Lonlay-Debeney, P Edery, V Cormier-Daire, et al.
Human Molecular Genetics|April 18, 2000
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiencyI Valnot, J C von Kleist-Retzow, A Barrientos, et al.
Prenatal Diagnosis|October 19, 2005
Gorlin syndrome presenting as prenatal chylothorax in a girlD Geneviève, E Walter, P Gorry, et al.
Pageof 43