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21. Insulin‐resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?. Issue 6 (12th February 2018)

23. Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. Issue 8 (17th May 2013)

24. Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients. Issue 7 (9th April 2014)

25. Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing. Issue 8 (3rd June 2016)

26. Mutation update for the SATB2 gene. Issue 8 (18th June 2019)

27. New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants. Issue 1 (December 2016)

28. Primrose syndrome: Characterization of the phenotype in 42 patients. Issue 6 (20th April 2020)