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184 积分 2024-03-11 加入
Diagnosis and Management of Patients With Mast Cell Activation Syndromes: Status 2026
1小时前
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Updates on inherited arrhythmia syndromes (Brugada syndrome, long QT syndrome, CPVT, ARVC)
7天前
已完结
Sodium taurocholate cotransporter polypeptide deficiency from two pairs of twins with homozygous and heterozygous of p.Ser267Phe variant, respectively: Case report
14天前
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Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alström syndrome by whole genome sequencing
15天前
已完结
Intronic variants impacting SLC12A1 gene splicing in Bartter syndrome type 1: Characterization of a novel deep intronic mutation via Whole-genome sequencing and minigene analysis
15天前
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Pediatric hemophagocytic lymphohistiocytosis: current conceptualization, diagnosis, and treatment
19天前
已完结
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
27天前
已完结
Prenatal diagnosis and genetic counselling of a paternal inherited GLI3 frameshift deletion in a Chinese family
1个月前
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Research of the Year 2025
1个月前
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Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing
1个月前
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