Miski Mohamed

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

Samira Achouitar, Miski Mohamed, Thatjana Gardeitchik et al. · Journal of Inherited Metabolic Disease · 2011 · 72 citations · Full text

Population Children, Translational Medicine, Metabolic Disorder +15

Thrombotic complications in patients with PMM2-CDG

MW Linssen, Miski Mohamed, Ron A. Wevers et al. · Molecular Genetics and Metabolism · 2013 · 53 citations

Thrombopoiesis, Thrombosis, Venous Thrombosis +7

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

Sunnie Wong, Lesa J. Beamer, Therese Gadomski et al. · The Journal of Pediatrics · 2016 · 53 citations · Full text

Autoimmune Disease, Genetic Disorder, Genetics +5

Perinatal and early infantile symptoms in congenital disorders of glycosylation

Simone Funke, Thatjana Gardeitchik, Dorus Kouwenberg et al. · American Journal of Medical Genetics Part A · 2013 · 47 citations

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency

Samira Achouitar, Jennifer Goldstein, Miski Mohamed et al. · Molecular Genetics and Metabolism · 2011 · 21 citations

Phka2 Gene, Common Mutation, Genetic Disorder +8