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Your search keyword '"Mefford, H."' showing total 15 results

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15 results on '"Mefford, H."'

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1. Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2

2. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

5. GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

8. De novo SCN1A mutations in migrating partial seizures of infancy

9. Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

10. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

11. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

12. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

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