Lv11
60 积分 2020-09-21 加入
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant
2小时前
待确认
Simpson–Golabi–Behmel syndrome
1个月前
已完结
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders
2个月前
已完结
SHOX far‐downstream deletion in a patient with nonsyndromic short stature
1年前
已完结
Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication
1年前
已完结
Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria
1年前
已完结
Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants
1年前
已完结
5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression
1年前
已完结
8p23.1 deletion : Look out for left ventricular hypertrabeculation and not only congenital heart diseases . Single ‐ center experience and literature revision
1年前
已完结
STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes
1年前
已完结
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