14 results on '"Lebre, A.S."'
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2. A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome
3. The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome
4. Néphroangionophtise : quand néphroangiosclérose et hypertension maligne cachent une néphronophtise chez l’adulte
5. The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2019)
6. Étude phénotypique des mutations rares responsables de diabète mitochondrial
7. Infantile systemic hyalinosis
8. Spinocerebellar ataxia 7 (SCA7): Identification and characterization of a new partner for ataxin-7
9. Un nouveau variant du gène de l’AVP dans le diabète insipide central
10. Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions
11. 1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency
12. Correlations radiologiques et genetiques chez 36 enfants porteurs d’une cytopathie mitochondriale avec mutation genetique identifiee
13. Effet de la déplétion aiguë diurne entryptophane (DAT) sur le sommeil de l'homme normal
14. Mitochondrial ND5 mutations mimicking brainstem tectal glioma
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