Lv1
40 积分 2023-07-04 加入
Congenital heart defects in molecularly confirmed KBG syndrome patients
2个月前
已完结
Whole Exome Sequencing in Fetal Cardiac Rhabdomyoma Detected by Ultrasonography: An Analysis of 12 Cases
2个月前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
3个月前
已完结
Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling
3个月前
已完结
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
3个月前
已完结
Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord
3个月前
已完结
Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China
4个月前
已完结
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
4个月前
已完结
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes]
4个月前
已完结
A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)
5个月前
已完结
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