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Search Results - El Gharaby, Nader
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Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation
by
GARCIA-DIAZ, Beatriz
,
BARROS, Mario H
,
DE VIVO, Darryl C
,
SHOKR, Aly
,
HIRANO, Michio
,
QUINZII, Catarina M
,
SANNA-CHERCHI, Simone
,
EMMANUELE, Valentina
,
AKMAN, Hasan O
,
FERREIRO-BARROS, Claudia C
,
HORVATH, Rita
,
TADESSE, Saba
,
EL GHARABY, Nader
,
DIMAURO, Salvatore
Published in
American journal of human genetics
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Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis
by
Ferreiro-Barros, Claudia C
,
Tengan, Célia H
,
Barros, Mário H
,
Palenzuela, Lluis
,
Kanki, Chisaka
,
Quinzii, Catarina
,
Lou, Johanna
,
El Gharaby, Nader
,
Shokr, Aly
,
De Vivo, Darryl C
,
DiMauro, Salvatore
,
Hirano, Michio
Published in
Journal of the neurological sciences
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American Journal Of Human Genetics
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Journal Of The Neurological Sciences
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Biological And Medical Sciences
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Fibroblasts - Metabolism
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Humans
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Infant, Newborn
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Life Sciences & Biomedicine
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Male
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Medical Sciences
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Mitochondria
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Protein Synthesis
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Science & Technology
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Autosomal Recessive
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Cell Cycle Proteins - Genetics
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Cells, Cultured
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Clinical Neurology
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Congenital Diseases
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Consanguinity
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Diseases Of Striated Muscles. Neuromuscular Diseases
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Dna, Mitochondrial - Genetics
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Electron Transport Complex Iv - Genetics
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Electron Transport Complex Iv - Metabolism
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