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  4. Clinical outcomes of fetuses with chromosome 16 short arm copy number variants
 
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Clinical outcomes of fetuses with chromosome 16 short arm copy number variants

Journal
Molecular genetics & genomic medicine
Date Issued
2023-04-04
Author(s)
Jessica KANG  
CHIEN-NAN LEE  orcid-logo
Su, Yi-Ning
YI-YUN TAI  
CHIH-LING CHEN  
HAN-YING CHEN  
SHIN-YU LIN  
DOI
10.1002/mgg3.2174
URI
https://scholars.lib.ntu.edu.tw/handle/123456789/630333
URL
https://api.elsevier.com/content/abstract/scopus_id/85151449282
Abstract
The short arm of chromosome 16 consists of several copy number variants (CNVs) that are crucial in neurodevelopmental disorders; however, incomplete penetrance and diverse phenotypes after birth aggravate the difficulty of prenatal genetic counseling.
Subjects
chromosome 16; copy number variants; genetic counseling; prenatal diagnosis
Publisher
WILEY
Type
journal article

臺大位居世界頂尖大學之列,為永久珍藏及向國際展現本校豐碩的研究成果及學術能量,圖書館整合機構典藏(NTUR)與學術庫(AH)不同功能平台,成為臺大學術典藏NTU scholars。期能整合研究能量、促進交流合作、保存學術產出、推廣研究成果。

To permanently archive and promote researcher profiles and scholarly works, Library integrates the services of “NTU Repository” with “Academic Hub” to form NTU Scholars.

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開放取用是從使用者角度提升資訊取用性的社會運動,應用在學術研究上是透過將研究著作公開供使用者自由取閱,以促進學術傳播及因應期刊訂購費用逐年攀升。同時可加速研究發展、提升研究影響力,NTU Scholars即為本校的開放取用典藏(OA Archive)平台。(點選深入了解OA)

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