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10 积分 2025-04-17 加入
Genetic and functional analyses of TBX4 reveal novel mechanisms underlying pulmonary arterial hypertension
7小时前
已完结
De novo missense variants of KCNA3, KCNA4, and KCNA6 cause early onset developmental epileptic encephalopathy
13小时前
已完结
PEBAT, an Intriguing Neurodegenerative Tubulinopathy Caused by a Novel Homozygous Variant in TBCD: A Case Series and Literature Review
1天前
已完结
Efficacy of early intrauterine balloon tamponade for immediate postpartum hemorrhage after vaginal delivery: a randomized clinical trial
1个月前
已完结
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
1个月前
已完结
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
1个月前
已完结
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
1个月前
已完结
Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II
1个月前
已完结
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study
1个月前
已完结
A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature
1个月前
已完结
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