Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: Counseling and INS[original query] |
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[Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation]. Arquivos brasileiros de endocrinologia e metabologia 2004 Oct 48 (5): 697-704. Bachega Tânia A S S, Billerbeck Ana Elisa C, Parente Erica B, Lemos-Marini Sofia H V, Baptista Maria Tereza M, Mello Maricilda P, Guerra Gil, Kuperman Hilton, Setian Nuvarte, Damiani Durval, Torres Natália, Castro Margaret de, Mendonça Berenice B |
Splice site mutations in mismatch repair genes and risk of cancer in the general population. Familial cancer 2013 Sep 12 (3): 567-72. Thomsen Mette, Nordestgaard Børge G, Tybjærg-Hansen Anne, Bojesen Stig |
Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran. International journal of pediatric otorhinolaryngology 2014 Apr 78 (4): 637-40. Bonyadi Mortaza J, Fotouhi Nikou, Esmaeili Mohs |
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. Pediatric nephrology (Berlin, Germany) 2015 Aug 30 (8): 1279-87. Cil Onur, Besbas Nesrin, Duzova Ali, Topaloglu Rezan, Peco-Anti? Amira, Korkmaz Emine, Ozaltin Fat |
An insertion/deletion polymorphism within 3'UTR of RYR2 modulates sudden unexplained death risk in Chinese populations. Forensic science international 2017 Jan 270 165-172. Wang Shouyu, Zhang Zhixiang, Yang Ya, Wang Chaoqun, Tao Ruiyang, Hu Shuxiang, Yin Zhixia, Zhang Qing, Li Lijuan, He Yan, Zhu Shaohua, Li Chengtao, Zhang Suhua, Zhang Jianhua, Sheng Lihui, Wu Fangyu, Luo Bin, Gao Yuzh |
Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children. Clinical and experimental nephrology 2016 Jan . Dhandapani Mohanapriya Chinambedu, Venkatesan Vettriselvi, Rengaswamy Nammalwar Bollam, Gowrishankar Kalpana, Ekambaram Sudha, Sengutavan Prabha, Perumal Venkatachal |
Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes? PloS one 2019 14 (7): e0220634. Urrutia Inés, Martínez Rosa, Rica Itxaso, Martínez de LaPiscina Idoia, García-Castaño Alejandro, Aguayo Anibal, Calvo Begoña, Castaño Luis, |
Association between an indel polymorphism within CTH and the risk of sudden cardiac death in a Chinese population. Legal medicine (Tokyo, Japan) 2020 6 46 101736. Zhou Wei, Yang Qi, Yu Huan, Zhang Qing, Zou Yan, Chen Xuekun, Yang Zhenzhen, Qu Yiling, Tan Rui, Li Lijuan, Zhu Shaohua, He Yan, Luo Bin, Gao Yuzh |
A Novel COX10 Deletion Polymorphism as a Susceptibility Factor for Sudden Cardiac Death Risk in Chinese Populations. DNA and cell biology 2020 11 40 (1): 10-17. Yang Zhenzhen, Zhang Qing, Yu Huan, Li Lijuan, He Yan, Zhu Shaohua, Li Chengtao, Zhang Suhua, Luo Bin, Gao Yuzh |
Breakpoints Identification of a Balanced Complex Chromosome Rearrangement Case: 46,XX, t(6;15;10;9)(q13;q15;p11.2;q34.3) ins(9;8)(q22.33;q21.1q21.3). Clinical laboratory 2021 4 67 (4): . Li Bohong, Li Suli, Luo Fuwei, Yang Chuanchun, Xie Jianshe |
Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt. Annals of pediatric endocrinology & metabolism 2022 2 27 (3): 214-222. Abdelmeguid Yasmine, Mowafy Ehsan Wafa, Marzouk Iman, Franco Elisa De, ElSayed Shaym |
[Genetic analysis of a Chinese pedigree with 18q21.2-q22.3 duplication and deletion in two offspring respectively resulting from a maternal intrachromosomal insertion]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 3 40 (4): 483-489. Zhou Jiahong, Zhou Pan, Lyu Zhiyu, Zhang Hui, Luo Qing, Yuan Lan, Cheng Yang, Wen Xia, Liu Jin |
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