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2. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency. Issue 4 (18th March 2021)

3. Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome. Issue 8 (28th June 2019)

4. Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome1. Issue 8 (28th June 2019)

5. Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations. (13th January 2020)

6. Neuronal ceroïd‐lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series. Issue 2 (7th July 2022)