Lv1
58 积分 2024-06-04 加入
22q13.33 duplication involving SHANK3 gene: a boy and his mother with “persistent” language and speech sound disorder
2天前
已完结
A NEW ISOLATED 20q INTERSTITIAL DUPLICATION CASE AND ITS CLINICAL COMPARISON WITH SIMILAR ISOLATED CASES
3天前
已关闭
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor
21天前
已完结
[Phenotypic and genetic characteristics of a child with 7p15 deletion syndrome]
25天前
已完结
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants
1个月前
已完结
De novo partial duplications 1p: Report of two new cases and review
1个月前
已完结
Non-Syndromic Sensorineural Hearing Loss in Children
1个月前
已关闭
Acrofacial dysostosis syndromes: A relevant prenatal dilemma. A case report and brief literature review
1个月前
已完结
Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families
1个月前
已完结
Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant
2个月前
已完结
皖公网安备34019202002308
