Lv1
90 积分 2025-11-24 加入
Identification of Ala2Thr mutation in insulin gene from a Chinese MODY10 family
11天前
已完结
Maturity-onset diabetes of the young type 10 caused by an Ala2Thr mutation of INS: A case report
11天前
已完结
Isolated familial pneumothorax in a Taiwanese family with Birt-Hogg-Dubé syndrome
1个月前
已关闭
Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene
1个月前
已完结
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation
1个月前
已完结
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome
1个月前
已完结
Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation
1个月前
已完结
Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene
1个月前
已完结
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients
2个月前
已完结
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience
2个月前
已完结
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