6 results on '"Reijnders, M.R.F."'
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2. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
3. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
4. RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
5. Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
6. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
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