Lv21
170 积分 2024-01-30 加入
Shaffer LG, Slovak ML, Campbell LJ (2009): ISCN 2009 an international system for human cytogenetic nomenclature
2小时前
待确认
Pure partial trisomy 7q: two new patients and review
3天前
已关闭
Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly
5天前
已完结
Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis
5天前
已完结
Referral patterns for microarray testing in prenatal diagnosis
5天前
已完结
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis
13天前
已完结
Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH
14天前
已关闭
Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients
14天前
已完结
Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family
18天前
已完结
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