Lv2
160 积分 2025-01-14 加入
A new three‐generational family with frontometaphyseal dysplasia, male‐to‐female transmission, and a previously reported FLNA mutation
2小时前
待确认
Genotype–epigenotype–phenotype correlations in females with frontometaphyseal dysplasia
2小时前
已完结
Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity
2小时前
已完结
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum
2小时前
已完结
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
5小时前
已完结
Skewed X‐inactivation in a family with DLG3‐associated X‐linked intellectual disability
5小时前
已完结
X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment
20天前
已完结
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human
30天前
已完结
Hereditary Severe Insulin-resistance Syndrome and Acanthosis Nigricans Caused by Novel Mutations in the INSR Gene
1个月前
已完结
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