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1دورية أكاديمية
المؤلفون: Rida El Ayoubi, Estelle Colin, Audrey Rousseau, Sylvie Nguyen The Tich, Patrizia Bonneau, Stéphane Triau
المصدر: Human Pathology: Case Reports, Vol 8, Iss C, Pp 51-54 (2017)
وصف الملف: electronic resource
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2
المؤلفون: Guillaume Geffroy, Magalie Barth, Daniel Henrion, Pascal Reynier, Patrizia Bonneau, Naïg Gueguen, Vincent Procaccio, Dominique Bonneau, Christophe Verny, Valérie Dumas-Desquiret, Samuel Frey
المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1857:e102-e103
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, business.industry, Internal medicine, medicine.medical_treatment, Biophysics, Medicine, Cell Biology, business, MELAS syndrome, medicine.disease, Biochemistry, Ketogenic diet
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3
المؤلفون: Léna Le Verger, Christophe Verny, Magalie Barth, Brigitte Ricard-Mousnier, Patrizia Bonneau
المصدر: Revue Neurologique. 172:A17
مصطلحات موضوعية: Neurology, Neurology (clinical)
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4
المؤلفون: Agnès Rötig, Stéphanie Perez-Martin, Alain Fischer, Arnold Munnich, L de Parscau, Patrick Niaudet, Pascale de Lonlay, Patrizia Bonneau-Amati, Christiane Mousson, Laurence Faivre, F. Huet, C. Thauvin-Robinet, Agnès Atale
المصدر: European journal of medical genetics. 52(1)
مصطلحات موضوعية: Male, medicine.medical_specialty, Pancytopenia, Gastroenterology, DNA, Mitochondrial, Diagnosis, Differential, Tubulopathy, Internal medicine, Genetics, medicine, Humans, Kidney Tubules, Distal, Pancreas, Genetics (clinical), Growth Disorders, Pearson syndrome, Sequence Deletion, business.industry, Fanconi syndrome, Infant, Metabolic acidosis, General Medicine, Syndrome, medicine.disease, Fanconi Syndrome, Endocrinology, medicine.anatomical_structure, Lactic acidosis, Aminoaciduria, Child, Preschool, Mutation, Acidosis, Lactic, business, Kidney disease