Lv1
80 积分 2024-01-30 加入
22q13.33 duplication involving SHANK3 gene: a boy and his mother with “persistent” language and speech sound disorder
16小时前
待确认
22q13.33 duplication involving SHANK3 gene: a boy and his mother with “persistent” language and speech sound disorder
16小时前
已完结
Intragenic deletions of NRXN1: three new case reports and a review of the phenotype
2天前
已完结
Copy number variations in cryptogenic cerebral palsy
6天前
已完结
Human Hypertension Caused by Mutations in WNK Kinases
12天前
已完结
Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development
12天前
已完结
Molecular Genetic Characterization of 151Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations inMUT
13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
14天前
已完结
[Genetic testing and pedigree analysis for a case with intermediate α-thalassemia[--SEA/α90-92(AGCTTCGG)α]]
14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
14天前
已关闭
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