Lv52
1130 积分 2025-06-26 加入
Thrombotic Events in Homozygotes with a Proven or Highly Probable Arg304Gln Factor VII Mutation (FVII Padua)1): Only Limited Replacement Therapy is Needed in Case of Surgery
3小时前
待确认
The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra
6天前
已完结
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
7天前
已完结
Recurrent FLNA p.Gly1554Arg Variant Associated With Familial Ebstein Anomaly and Joint Stiffness
7天前
已完结
The improvement in diagnostic yield of developmental and epileptic encephalopathy by the multi-omics sequential testing method
1个月前
已完结
Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels
1个月前
已完结
Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort
1个月前
已完结
Molecular and clinical characteristics of pediatric patients with primary congenital hypothyroidism: novel genetic variants and the genotype-phenotype association
1个月前
已完结
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases
2个月前
已关闭
Clinical and Molecular Features of Ciliopathies Diagnosed by Prenatal Exome Sequencing in Fetuses With Ultrasound Abnormalities
2个月前
已完结
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