Lv1
30 积分 2024-06-12 加入
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency
1天前
待确认
A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature
2天前
求助中
RYR3 Variants Are Potentially Associated With Idiopathic (Non‐Lesional) Partial Epilepsy/Susceptibility of Seizures, Toward Understanding the Gene‐Disease Association by Genetic Dependent Nature
9天前
已完结
Biochemical characterization of renal hypouricemia-associated mutations in urate transporter genes using human cells
21天前
已完结
Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation
23天前
已完结
Identification of novel and known mutation in 19 patients with mucolipidosis type II and III from India and validation of novel method of screening for mucolipidosis-II and III screening
24天前
已完结
Identification of novel and known mutation in 19 patients with mucolipidosis type II and III from India and validation of novel method of screening for mucolipidosis-II and III screening
24天前
已完结
Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering
24天前
已完结
Identification of high-risk non-synonymous SNPs (nsSNPs) in DNAH1 and DNAH17 genes associated with male infertility: a bioinformatics analysis
28天前
已完结
Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis
30天前
已完结
皖公网安备34019202002308
