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70 积分 2025-04-10 加入
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face
1年前
已完结
Novel PITX2 mutations identified in Axenfeld–Rieger syndrome and the pattern of PITX2‐related tooth agenesis
1年前
已完结
Novel PITX2 mutations identified in Axenfeld–Rieger syndrome and the pattern of PITX2‐related tooth agenesis
1年前
已完结
Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders
1年前
已完结
Impact of integrated translational research on clinical exome sequencing
1年前
已完结
A spectrum of BRCA1 and BRCA2 germline deleterious variants in ovarian cancer in Russia
1年前
已完结
Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation
1年前
已完结
Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation
1年前
已完结
APC Germline Mutations in Individuals Being Evaluated for Familial Adenomatous Polyposis
1年前
已完结
APCgermline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
1年前
已完结
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