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biokfizz
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2024-01-17 加入
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Forensic Autopsy Reveals Novel Pathogenic Variant of PKD1 Associated With Polycystic Kidney Disease
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Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants
3个月前
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Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II
3个月前
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[Analysis of the Types of Thalassemia Gene Mutations in Nanping Area of Fujian, China]
3个月前
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Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study
3个月前
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Long-read sequencing solves complex structure of CYP21A2 in a large 21-hydroxylase deficiency cohort
5个月前
已完结
Direct DNA analysis in a new Italian carrier of Hb-Belfast: beta 15 (A12) Trp-->Arg
1年前
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