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Your search keyword '"Duplomb, Laurence"' showing total 6 results

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Start Over You searched for: Author "Duplomb, Laurence" Remove constraint Author: "Duplomb, Laurence" Journal journal of medical genetics Remove constraint Journal: journal of medical genetics
6 results on '"Duplomb, Laurence"'

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1. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

2. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

3. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

4. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

5. TheDYRK1Agene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

6. IntragenicCAMTA1rearrangements cause non-progressive congenital ataxia with or without intellectual disability

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