المؤلفون: Duong Chi Thanh, Can Thi Bich Ngoc, Ngoc-Lan Nguyen, Chi Dung Vu, Nguyen Van Tung, Huy Hoang Nguyen

المصدر: Medicina, Vol 56, Iss 2, p 76 (2020)

مصطلحات موضوعية: cornelia de lange, de novo mutation, nibpl, c.6697g&gt, c.2602c&gt, c.4504delg, whole exome sequencing, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1010-660X/56/2/76; https://doaj.org/toc/1010-660X

URL الوصول: https://doaj.org/article/24454f972f43466bbb86927fcfa7e697

المؤلفون: Chi Dung Vu, Can Thi Bich Ngoc, Duong Chi Thanh, Huy Hoang Nguyen, Ngoc-Lan Nguyen, Nguyen Van Tung

المصدر: Medicina, Vol 56, Iss 2, p 76 (2020)
Medicina

مصطلحات موضوعية: Cornelia de Lange Syndrome, Cohesin complex, In silico, Case Report, Disease, whole exome sequencing, medicine, c.2602c&gt, Gene, Exome sequencing, Genetics, NIBPL, lcsh:R5-920, business.industry, c.2602CT, c.6697g&gt, NIPBL, General Medicine, c.6697G>A, medicine.disease, Phenotype, de novo mutation, cornelia de lange, business, lcsh:Medicine (General), nibpl, c.4504delg

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d18e4a55944528a079423e05ab4705d
https://www.mdpi.com/1010-660X/56/2/76

المؤلفون: Thanh DC; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam., Ngoc CTB; Center for Rare Diseases and Newborn Screening, Department of Endocrinology, Metabolism and Genetics, Vietnam National Hospital of Pediatrics, 18/879 La Thanh str., Dong Da, Hanoi 100000, Vietnam., Nguyen NL; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam., Vu CD; Center for Rare Diseases and Newborn Screening, Department of Endocrinology, Metabolism and Genetics, Vietnam National Hospital of Pediatrics, 18/879 La Thanh str., Dong Da, Hanoi 100000, Vietnam., Tung NV; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam., Nguyen HH; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam.

المصدر: Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2020 Feb 14; Vol. 56 (2). Date of Electronic Publication: 2020 Feb 14.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 9425208 Publication Model: Electronic Cited Medium: Internet ISSN: 1648-9144 (Electronic) Linking ISSN: 1010660X NLM ISO Abbreviation: Medicina (Kaunas) Subsets: MEDLINE

مواضيع طبية MeSH: Cell Cycle Proteins/*genetics , De Lange Syndrome/*genetics, Cell Cycle Proteins/analysis ; De Lange Syndrome/epidemiology ; De Lange Syndrome/physiopathology ; Female ; Genetic Testing/methods ; Genetic Testing/statistics & numerical data ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Infant ; Male ; Mutation/genetics ; Vietnam/epidemiology