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280 积分 2025-04-19 加入
Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
18小时前
已完结
Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia
1天前
已完结
Rock around DYRK1A: Ethnic diversity, clinical challenges
3天前
已完结
A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description
16天前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
16天前
已完结
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
23天前
已关闭
Coincidental occurrence of severe factor XII deficiency in a case of mild hemophilia A: a unique coagulation laboratory diagnostic conundrum
28天前
已完结
Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene
29天前
已关闭
[Erythrocytosis due to a high-affinity hemoglobulin: mutant hemoglobin Saint-Jacques beta 140 (H18) Ala----Thr with a change in the 2,3-diphosphoglycerate binding site]
1个月前
已关闭
Molecular insights into genodermatoses: Genetic findings from 43 patients
1个月前
已完结
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