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You searched for: Author/Creator Huizing, Marjan

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1. Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects. Issue 5 (13th January 2016)

2. Delayed diagnosis in a house of correction: Smith–Magenis syndrome due to a de novo nonsense RAI1 variant. Issue 9 (17th June 2016)

3. DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics. Issue 6 (30th April 2013)

4. Free sialic acid storage disorder: Progress and promise. (11th June 2021)

7. Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases. Issue 11 (25th June 2018)

9. Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy. Issue 4 (14th June 2017)