Lv42
416 积分 2025-12-22 加入
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
6小时前
已完结
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
7天前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
8天前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
12天前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
15天前
已关闭
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
15天前
已关闭
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
22天前
已关闭
Exome-wide Analysis of De Novo and Rare Genetic Variants in Patients With Brain Arteriovenous Malformation
23天前
已关闭
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
23天前
已完结
Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing
30天前
已关闭
Neck Circumference Measurement for Surveillance and Early Detection of Hemorrhage After Thyroidectomy: A Diagnostic Accuracy Study
1个月前
已采纳
Design, synthesis, and properties of N -annulated perylene-embedded carbon nanorings
3个月前
已采纳
The moral identity profiles of inspiring social studies teachers
5个月前
已采纳
Identification of a novel inhibitor of SARS‐CoV ‐2 main protease: an in silico , biochemical, and cell‐based approach
7个月前
已采纳
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