Lv1
50 积分 2025-06-03 加入
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations
10小时前
待确认
Increasing evidence of hereditary lymphedema caused by CELSR1 loss‐of‐function variants
1个月前
已完结
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent
1个月前
已完结
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder
2个月前
已完结
A retrospective longitudinal study of 52 Finnish patients with X‐linked retinoschisis
2个月前
已完结
Development of a targeted gene panel for the diagnosis of Gorlin syndrome
3个月前
已完结
Additional mutations in argininosuccinate synthetase causing citrullinemia
3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
3个月前
已完结
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
4个月前
已完结
Jagged-1 mutation analysis in Italian Alagille syndrome patients
4个月前
已完结
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