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Arnold Munnich

Veröffentlichungen von Arnold Munnich zu Rabia, Smail Hadj ->
weitere Veröffentlichungen von Arnold Munnich:
Ret in human development and oncogenesis (1997)
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q (1993)
FGFR2 mutations in Pfeiffer syndrome (1995)
Correlation between severity and SMN protein level in spinal muscular atrophy (1997)
Clinical and genetic heterogeneity in retinitis pigmentosa (1990)
Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene (1991)
Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome (1994)
Possible genetic heterogeneity in the Saethre-Chotzen syndrome (1996)
Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France (1996)
Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France (1996)
Clinical presentations and laboratory investigations in respiratory chain deficiency (1996)
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency (1997)
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency (1995)
XNP mutation in a large family with Juberg-Marsidi syndrome (1996)
Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia (1997)
Veröffentlichungen zu Rabia, Smail Hadj
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1
Tullio-Pelet, Anna, Salomon, Rémi, ... Mutant WD-repeat protein in triple-A syndrome
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 26, No. 3 (2000), p. 332-335
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2000
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2
Döffinger, Rainer, Smahi, Asma, ... X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 27, No. 3 (2001), p. 277-285
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ähnliche Vorschläge
2001