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Publications by A Munnich

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by Mutations in the IFT140 Gene

English

In Vivo Regulation of Glycolytic and Gluconeogenic Enzyme Gene Expression in Newborn Rat Liver.

Journal of Clinical Investigation

English

Clinical and Genetic Heterogeneity of Hypochondroplasia.

Journal of Medical Genetics

English

Severe Manifestations in Carrier Females in X Linked Retinitis Pigmentosa.

Journal of Medical Genetics

English

Exclusion of RET and Pax 3 Loci in Waardenburg-Hirschsprung Disease.

Journal of Medical Genetics

English

Filippi Syndrome: A New Case With Skeletal Abnormalities.

Journal of Medical Genetics

English

De Novo Deletions in Spinal Muscular Atrophy: Implications for Genetic Counselling.

Journal of Medical Genetics

English

De Nouvelles Fonctions Pour l'AMP Cyclique

Medecine/Sciences

Molecular Biology

English