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140 积分 2026-01-13 加入
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients
9小时前
待确认
X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype
1天前
求助中
Recurrent missense variant identified in two unrelated families with MPZL2‐related hearing loss, expanding the variant spectrum associated with DFNB111
3天前
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
6天前
已关闭
Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity
7天前
已关闭
Missense mutations in the human β fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion
8天前
已关闭
Osteoporosis Caused by Monoallelic Variant of WNT1 Gene in Four Pediatric Patients
15天前
已完结
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) with E250K mutation in CD2BP1 gene treated with the tumor necrosis factor inhibitor adalimumab
21天前
已关闭
Improved sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis
1个月前
已完结
Adult-Onset Focal Segmental Glomerulosclerosis With Steroid-Dependent Nephrotic Syndrome Caused by a Novel TBC1D8B Variant: A Case Report and Literature Review
1个月前
已完结
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