Lv11
50 积分 2025-06-03 加入
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent
4小时前
已完结
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder
1个月前
已完结
A retrospective longitudinal study of 52 Finnish patients with X‐linked retinoschisis
1个月前
已完结
Development of a targeted gene panel for the diagnosis of Gorlin syndrome
1个月前
已完结
Additional mutations in argininosuccinate synthetase causing citrullinemia
2个月前
已关闭
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion
2个月前
已完结
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
2个月前
已完结
Jagged-1 mutation analysis in Italian Alagille syndrome patients
2个月前
已完结
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
2个月前
已完结
MED13L and its disease‐associated variants influence the dendritic development of cerebral cortical neurons in the mammalian brain
2个月前
已完结
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