Lv1
44 积分 2024-12-25 加入
Familial mesial temporal lobe epilepsy phenotype is associated with novel LGI1 variants: A report of two families
1天前
求助中
Clinical exome sequencing unravels the diverse spectrum of genetic heterogeneity and genotype-phenotype correlations in hypertrophic cardiomyopathy
8天前
已完结
[Correlation between genotype and clinical phenotype in hypertrophic cardiomyopathy families with MYH7-R453C mutation]
8天前
已完结
2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines
8天前
已完结
Focal dermal hypoplasia (Goltz syndrome) with concurrent growth hormone deficiency and response to therapy
29天前
已完结
Combined AAV-mediated specific Gjb2 expression restores hearing in DFNB1 mouse models
1个月前
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
2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
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