J.M. Nuoffer

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Articles (8)

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maladie (5) Patients (5) Patients (5) maladie (5) Symptoms (4) puits (3) analyse (3) gène (3) index (3) Phenotype (3) Scarcity (3) Muscles (3) Human beings (3) Analysis (3) répertoire (3) mise sous écran protecteur (2) dommage (2) âge (2) adulte (2) Diagnosis (2) Development (2) Case (2) Will (2) Tissues (2) Signs and symbols (2) Signs and signboards (2) Chronic renal failure (2) Months (2) Liver (2) Histology (2)

Documents écrit par J.M. Nuoffer (8) | parle de J.M. Nuoffer (0)

Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.
M. Grassi et al.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
N. Boy et al.
A new mouse model of radiation-induced liver disease reveals mitochondrial dysfunction as an underlying fibrotic stimulus.
N. Melin et al.
Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient.
M. Gschwind et al.
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
C.M. Rüegger et al. (2014)
Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.
L. Abela et al. (2014)
Variability in urinary oxalate measurements between six international laboratories.
N.M. Maalouf et al. (2011)
Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.
D. Ballhausen et al. (2010)