Lv62
1960 积分 2022-11-01 加入
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
21天前
已完结
Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene
22天前
已完结
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy
1个月前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
1个月前
已关闭
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
1个月前
已完结
Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations
1个月前
已完结
X-linked transient antenatal Bartter syndrome related to MAGED2 gene: enriching the phenotypic description and pathophysiologic investigation
1个月前
已完结
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients
2个月前
已完结
Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families
2个月前
已完结
Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations
2个月前
已完结
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