Lv1
54 积分 2024-12-25 加入
Focal dermal hypoplasia (Goltz syndrome) with concurrent growth hormone deficiency and response to therapy
10天前
已完结
Combined AAV-mediated specific Gjb2 expression restores hearing in DFNB1 mouse models
11天前
已完结
Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness
1个月前
已完结
Prevalence and Incidence of Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome in Japan: A Nationwide Epidemiological Survey in 2022
1个月前
已完结
Expanded phenotype and cancer risk in patients with Beckwith-Wiedemann spectrum caused by CDKN1C variants
2个月前
已完结
脊髓性肌萎缩的康复评估及治疗研究进展
2个月前
已完结
Pre-term Familial Exudative Vitreoretinopathy: A Novel Nonsense LRP5 Mutation
3个月前
已关闭
Amyotrophic lateral sclerosis and frontotemporal lobar degeneration in association with CADASIL
3个月前
已完结
Damaging Alleles Affecting Multiple CARD14 Domains Are Associated with Palmoplantar Pustulosis
3个月前
已完结
Genotype-phenotype correlations in children with Gitelman syndrome
3个月前
已完结
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