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2024-11-11 加入
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Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing
14小时前
已完结
Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families
3天前
已完结
Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1
6天前
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Neonatal cholestasis and Niemann-pick type C disease: A literature review
7天前
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A progressive neurological condition with acquired sea-blue histiocytosis further the diagnosis of Niemann-Pick type C1 in a 10-year-old boy
7天前
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Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing
10天前
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cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis and characterisation of a novel MOCS1 variant
13天前
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Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
14天前
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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
14天前
已完结
Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease
15天前
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