Search Results - "Medical genetics"

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  1. 621
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    Mutation screening of the <it>RNF8, UBC13 </it>and <it>MMS2 </it>genes in Northern Finnish breast cancer families by Winqvist Robert, Pylkäs Katri, Vuorela Mikko

    Published 2011
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  2. 622
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    Parental ages and levels of DNA methylation in the newborn are correlated by Tylavsky Frances A, Thomas Fridtjof, Adkins Ronald M, Krushkal Julia

    Published 2011
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  3. 623
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    Autoimmune Polyglandular Syndrome Type 1: a case report by Sayed Mahmoud Sajjadi-Jazi, Akbar Soltani, Samaneh Enayati, Armita Kakavand Hamidi, Mahsa M. Amoli

    Published 2019
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  4. 624
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    Caspase-1 genetic variation is not associated with Alzheimer's disease risk by Berciano José, Valdivieso Fernando, Frank Ana, Martínez-García Ana, Pozueta Ana, Mateo Ignacio, Sánchez-Juan Pascual, Rodríguez-Rodríguez Eloy, Vázquez-Higuera José, Bullido María J, Combarros Onofre

    Published 2010
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  5. 625
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    MiRNA155HG polymorphisms influenced the risk of liver cancer among the Han Chinese population by Xu Chao, Xuesong Feng, Xiaoping Wang, Hailong Shi, Hong Li, Yuewen Wang, Lanlan Wang, Haiyu Shen, Qing Zha, Yanni Chen

    Published 2020
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  6. 626
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    Lack of association between genetic polymorphisms within <it>DUSP12 - </it><it>ATF6 </it>locus and glucose metabolism related traits in a Chinese population by Xiang Kunsan, Bao Yuqian, Wang Jie, Ma Xiaojing, Wang Congrong, Zhang Rong, Hu Cheng, Jia Weiping

    Published 2011
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  7. 627
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    Global health and the new world order Historical and anthropological approaches to a changing regime of governance

    Published 2020
    DOAB: description of the publication
    Electronic Book Chapter

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  8. 628
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    With and Without Galton Vasilii Florinskii and the Fate of Eugenics in Russia by Krementsov, Nikolai

    Published 2018
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    Electronic Book Chapter

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  9. 629
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    Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment by Ritch Robert, Munier Francis, Addison Mark K, Jaafar Mohamad S, Gould Douglas B, MacDonald Ian M, Walter Michael A

    Published 2004
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  10. 630
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    Expression analyses of the genes harbored by the type 2 diabetes and pediatric BMI associated locus on 10q23 by Zhao Jianhua, Deliard Sandra, Aziz Ali, Grant Struan FA

    Published 2012
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  11. 631
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    Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma by Gascoyne Randy D, Connors Joseph M, Gallagher Richard P, Lai Agnes S, Leach Stephen, MacArthur Amy C, Schuetz Johanna M, Spinelli John J, Brooks-Wilson Angela R

    Published 2009
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  12. 632
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    A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review by Junling Fu, Tong Wang, Xinhua Xiao

    Published 2019
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  13. 633
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    Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1 by Peiwei Chai, Yingxiu Luo, Chuandi Zhou, Yefei Wang, Xianqun Fan, Renbing Jia

    Published 2019
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  14. 634
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    Mutation analysis of the <it>NSD1 </it>gene in patients with autism spectrum disorders and macrocephaly by Delorme Richard, Chaste Pauline, Nygren Gudrun, Cai Guiqing, Buxbaum Joseph D, Goldsmith Juliet, Råstam Maria, Silverman Jeremy M, Hollander Eric, Gillberg Christopher, Leboyer Marion, Betancur Catalina

    Published 2007
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  15. 635
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    The quantification of <it>COMT </it>mRNA in <it>post mortem </it>cerebellum tissue: diagnosis, genotype, methylation and expression by Craig Ian W, Mill Jonathan, Dempster Emma L, Collier David A

    Published 2006
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  16. 636
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    Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre by Hills Alison, Madula Rajiv, Thomas Helen, Welch Alysia, Mackie Ogilvie Caroline, Ahn Joo Wook, Donaghue Celia, Mann Kathy

    Published 2007
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  17. 637
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    Association between insertion/deletion polymorphism in angiotensin-converting enzyme gene and acute lung injury/acute respiratory distress syndrome: a meta-analysis by Matsuda Akihisa, Kishi Taro, Jacob Asha, Aziz Monowar, Wang Ping

    Published 2012
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  18. 638
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    Glutathione S-Transferase P1 (GSTP1) gene polymorphism increases age-related susceptibility to hepatocellular carcinoma by Kuo Wu-Hsien, Tseng Hsin-Shun, Chen Yao-Li, Yang Shun-Fa, Chen Dar-Ren, Tsai Hsiu-Ting

    Published 2010
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  19. 639
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    Increased diagnostic yield by reanalysis of data from a hearing loss gene panel by Yu Sun, Jiale Xiang, Yidong Liu, Sen Chen, Jintao Yu, Jiguang Peng, Zijing Liu, Lisha Chen, Jun Sun, Yun Yang, Yaping Yang, Yulin Zhou, Zhiyu Peng

    Published 2019
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  20. 640
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    Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72 by Johannsson Oskar, Ericsson Mats, Kristoffersson Ulf, Nilbert Mef, Rambech Eva, Mangell Peter

    Published 2008
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