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9840 积分 2020-07-31 加入
Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study
2小时前
待确认
Terminal deletion 6q syndrome with 11q partial trisomy mosaicism due to maternal balanced translocation
3个月前
已关闭
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
5个月前
已完结
How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review
6个月前
已完结
Genetic Characterization of Protein C Deficiency in Japanese Subjects Using a Rapid and Nonradioactive Method for Single-Strand Conformational Polymorphism Analysis and a Model Building
6个月前
已完结
SHOX far‐downstream deletion in a patient with nonsyndromic short stature
7个月前
已完结
Prenatal diagnosis for fetuses with isolated and non‐isolated congenital heart defects using chromosomal microarray and exome sequencing
8个月前
已完结
A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome
1年前
已完结
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions
1年前
已完结
15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature
1年前
已完结
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