Lv5
940 积分 2025-04-03 加入
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism
1小时前
已完结
46,XY disorders of sex development: the use of NGS for prevalent variants
1天前
已完结
Audiometric analysis of a Belgian family linked to the DFNA10 locus
2天前
求助中
Pathogenic mutations in TMEM126B, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families
1个月前
已关闭
Identification of seven novel mutations in the factor VIII gene in 18 unrelated Chinese patients with hemophilia A
1个月前
已完结
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
2个月前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
2个月前
已关闭
Assessment of whole-exome sequencing results in neurogenetic diseases
2个月前
已完结
From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice
2个月前
已完结
Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies
2个月前
已完结
Wearable Intervention for Alcohol Use Risk and Sleep in Young Adults: A Randomized Clinical Trial
1个月前
已采纳
Extraction of Essential Oils from Plants by Hydrodistillation with Pulsed Electric Fields (PEF) Pre-Treatment
1个月前
已采纳
Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients
2个月前
已采纳
Analysis of the Influence of Nozzle Structure of Dry Powder Fire Extinguishing System on Supersonic Jet Characteristics
2个月前
已采纳
ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
2个月前
已采纳
Integrative structural biology of the penicillin-binding protein-1 from Staphylococcus aureus, an essential component of the divisome machinery
2个月前
已采纳
Vohwinkel syndrome with De novo mutation in the GJB2 gene with Heterozygous mutation c.175G>A (p. Gly59Ser)
2个月前
已撤回
A novel germlineSMAD4variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia
2个月前
已采纳
Overexpression of ESYT3 improves radioimmune responses through activating cGAS-STING pathway in lung adenocarcinoma
2个月前
已采纳
Treatment and Survival Outcomes Associated With Platinum Plus Low-Dose, Long-term Fluorouracil for Metastatic Nasopharyngeal Carcinoma
2个月前
已采纳
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