Lv21
160 积分 2026-01-13 加入
A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome
5小时前
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Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier
3天前
已完结
Exome sequencing improves genetic diagnosis of congenital orofacial clefts
5天前
已完结
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
25天前
已完结
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients
1个月前
已完结
X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype
1个月前
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Recurrent missense variant identified in two unrelated families with MPZL2‐related hearing loss, expanding the variant spectrum associated with DFNB111
1个月前
已完结
Targeted Next-generation Sequencing Reveals a Homozygous Nonsense Mutation in CAPN3 that Causes Limb-girdle Muscular Dystrophy Type 2A First in Vietnam
1个月前
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Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity
1个月前
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Missense mutations in the human β fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion
1个月前
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