Lv51
1170 积分 2022-11-01 加入
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
47分钟前
待确认
A Novel PTPRQ c.3697del Variant Causes Autosomal Dominant Progressive Hearing Loss in Both Humans and Mice
4天前
已完结
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
10天前
已完结
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex
10天前
已完结
Identification and Characteristics of Novel Mutations in Nonsyndromic Monogenic Obesity
19天前
已完结
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants
1个月前
已完结
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype–phenotype relationships
1个月前
已完结
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect
1个月前
已完结
Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis
1个月前
已完结
Prenatal Phenotype of Kabuki Syndrome: Seven Case Series
1个月前
已完结
皖公网安备34019202002308
