15 results on '"Mefford, H."'
Search Results
2. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
3. Heating Up: The Genetics of Febrile Seizures
4. Shedding Light on the Genome's Dark Matter
5. GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome
6. Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
7. Two Novel Mutations in ABHD12 Expand the Mutation Spectrum in PHARC (P05.141)
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
13. Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes
14. First Record of the Mullet Mugil liza from Florida
15. A Lighted Box for Tagging Fishes at Night
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