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90 积分 2021-09-26 加入
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
9小时前
求助中
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
14天前
已完结
Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study
1个月前
已完结
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients
1个月前
已完结
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses
1个月前
已完结
Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina
1个月前
已完结
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
1个月前
已关闭
Late Relapse in Genetically Determined Infantile Myofibromatosis. A Case Report and Brief Focus on Recurrences
2个月前
已完结
SKI complex: A multifaceted cytoplasmic RNA exosome cofactor in mRNA metabolism with links to disease, developmental processes, and antiviral responses
2个月前
已完结
PRKACA‐related, atrial defects‐polydactyly‐multiple congenital malformation syndrome in an Indian patient
2个月前
已关闭
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