Lv6
1710 积分 2022-11-01 加入
Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations
9天前
已完结
X-linked transient antenatal Bartter syndrome related to MAGED2 gene: enriching the phenotypic description and pathophysiologic investigation
10天前
已完结
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients
14天前
已完结
Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families
20天前
已完结
Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations
21天前
已完结
A diagnostic flow chart forPOLG-related diseases based on signs sensitivity and specificity
30天前
已关闭
Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia
30天前
已关闭
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature
1个月前
已完结
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses
1个月前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
1个月前
已完结
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