HuGE Literature Finder
Records 1-7
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, |
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 |
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 |
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 |
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 |
[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 |
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