Lv6
2800 积分 2023-12-13 加入
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
3天前
已完结
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
3天前
已完结
Natural course and outcomes of children with ubiquitin‐specific protease 53 (USP53)‐related genetic chronic cholestasis
6天前
已完结
A high level of Hb F unmasks a new case of Hb Wanjiang (β (F3‐F4) Ala87_Thr88delinsSer_Gln (HBB:c.255_264 delinsTTTTTCTCAG)) in a pregnant woman of African ancestry
10天前
已完结
Isolated cardiomyopathy in a pathogenic X‐linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms
11天前
已完结
Triplet-Repeat Primed PCR and Capillary Electrophoresis for Characterizing the Fragile X Mental Retardation 1 CGG Repeat Hyperexpansions
1个月前
已完结
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rareCFTRvariants
1个月前
已完结
Targeted Next-Generation Sequencing Reveals a Large Novel β-Thalassemia Deletion that Removes the Entire HBB Gene
1个月前
已完结
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy
2个月前
已完结
Guidelines for Genetic Testing and Management of Alport Syndrome
2个月前
已完结
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