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40 积分 2023-06-28 加入
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
1天前
已完结
Abstracts of the 33rd Annual Conference of the Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS) (Association for pediatric metabolic disorders)
7天前
已完结
Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients
7天前
已完结
Chorea-acanthocytosis presenting as dystonia
14天前
已关闭
Antisense oligonucleotides rescue an intronic splicing variant in the ABCB11 gene that causes progressive familial intrahepatic cholestasis type 2
15天前
已完结
IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)
26天前
已关闭
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for rare disease patients in a publicly-funded healthcare system: a prospective cohort study
1个月前
已完结
Novel oligophrenin 1 mutation in a neonate evaluated for possible congenital toxoplasmosis
1个月前
已完结
A unique case of a patient with partial trisomy 22 and lipodystrophy: is it a new syndrome due to an IGF-IR mutation?
1个月前
已关闭
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study
1个月前
已完结
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