Lv1
90 积分 2024-01-30 加入
Intragenic deletions of NRXN1: three new case reports and a review of the phenotype
1天前
已完结
Copy number variations in cryptogenic cerebral palsy
5天前
已完结
Human Hypertension Caused by Mutations in WNK Kinases
11天前
已完结
Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development
11天前
已完结
Molecular Genetic Characterization of 151Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations inMUT
12天前
已完结
Interstitial duplication of chromosome region 1q25.1q25.3: Report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms
13天前
已完结
[Genetic testing and pedigree analysis for a case with intermediate α-thalassemia[--SEA/α90-92(AGCTTCGG)α]]
13天前
已完结
Duplication of 7p: Further delineation of the phenotype and restriction of the critical region to the distal part of the short arm
13天前
已关闭
Acute leukemia in a patient with 15q overgrowth syndrome
20天前
已完结
De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis
22天前
已完结
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