Works matching IS 03406717 AND DT 2013 AND VI 132 AND IP 4

Results: 11

Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.
Published in:
Human Genetics, 2013, v. 132, n. 4, p. 461, doi. 10.1007/s00439-012-1260-5
By:
- Kunde, Stella-Amrei;
- Rademacher, Nils;
- Tzschach, Andreas;
- Wiedersberg, Eberhard;
- Ullmann, Reinhard;
- Kalscheuer, Vera;
- Shoichet, Sarah
Publication type:
Article
Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance.
Published in:
Human Genetics, 2013, v. 132, n. 4, p. 385, doi. 10.1007/s00439-012-1252-5
By:
- Raza, M.;
- Gertz, E.;
- Mundorff, Jennifer;
- Lukong, Joseph;
- Kuster, Judith;
- Schäffer, Alejandro;
- Drayna, Dennis
Publication type:
Article
Genome-wide association study identified novel genetic variant on SLC45A3 gene associated with serum levels prostate-specific antigen (PSA) in a Chinese population.
Published in:
Human Genetics, 2013, v. 132, n. 4, p. 423, doi. 10.1007/s00439-012-1254-3
By:
- Sun, Jielin;
- Tao, Sha;
- Gao, Yong;
- Peng, Tao;
- Tan, Aihua;
- Zhang, Haiying;
- Yang, Xiaobo;
- Qin, Xue;
- Hu, Yanling;
- Feng, Junjie;
- Kim, Seong-Tae;
- Lin, Xiaoling;
- Wu, Yongming;
- Zhang, Ju;
- Li, Zhixian;
- Li, Li;
- Mo, Linjian;
- Liang, Zhengjia;
- Shi, Deyi;
- Huang, Zhang
Publication type:
Article
Genetic association suggests that SMOC1 mediates between prenatal sex hormones and digit ratio.
Published in:
Human Genetics, 2013, v. 132, n. 4, p. 415, doi. 10.1007/s00439-012-1259-y
By:
- Lawrance-Owen, Adam;
- Bargary, Gary;
- Bosten, Jenny;
- Goodbourn, Patrick;
- Hogg, Ruth;
- Mollon, J.
Publication type:
Article
Genetic variants associated with VLDL, LDL and HDL particle size differ with race/ethnicity.
Published in:
Human Genetics, 2013, v. 132, n. 4, p. 405, doi. 10.1007/s00439-012-1256-1
By:
- Frazier-Wood, Alexis;
- Manichaikul, Ani;
- Aslibekyan, Stella;
- Borecki, Ingrid;
- Goff, David;
- Hopkins, Paul;
- Lai, Chao-Qiang;
- Ordovas, Jose;
- Post, Wendy;
- Rich, Stephen;
- Sale, Michèle;
- Siscovick, David;
- Straka, Robert;
- Tiwari, Hemant;
- Tsai, Michael;
- Rotter, Jerome;
- Arnett, Donna
Publication type:
Article
Genetic syndromes caused by mutations in epigenetic genes.
Published in:
Human Genetics, 2013, v. 132, n. 4, p. 359, doi. 10.1007/s00439-013-1271-x
By:
- Berdasco, María;
- Esteller, Manel
Publication type:
Article
Increased paternal age and the influence on burden of genomic copy number variation in the general population.
Published in:
Human Genetics, 2013, v. 132, n. 4, p. 443, doi. 10.1007/s00439-012-1261-4
By:
- Buizer-Voskamp, Jacobine;
- Blauw, Hylke;
- Boks, Marco;
- Eijk, Kristel;
- Veldink, Jan;
- Hennekam, Eric;
- Vorstman, Jacob;
- Mulder, Flip;
- Tiemeier, Henning;
- Uitterlinden, André;
- Kiemeney, Lambertus;
- den Berg, Leonard;
- Kahn, René;
- Sabatti, Chiara;
- Ophoff, Roel
Publication type:
Article
Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility.
Published in:
Human Genetics, 2013, v. 132, n. 4, p. 431, doi. 10.1007/s00439-012-1262-3
By:
- Siedlinski, Mateusz;
- Tingley, Dustin;
- Lipman, Peter;
- Cho, Michael;
- Litonjua, Augusto;
- Sparrow, David;
- Bakke, Per;
- Gulsvik, Amund;
- Lomas, David;
- Anderson, Wayne;
- Kong, Xiangyang;
- Rennard, Stephen;
- Beaty, Terri;
- Hokanson, John;
- Crapo, James;
- Lange, Christoph;
- Silverman, Edwin
Publication type:
Article
Ordered subset linkage analysis based on admixture proportion identifies new linkage evidence for alcohol dependence in African-Americans.
Published in:
Human Genetics, 2013, v. 132, n. 4, p. 397, doi. 10.1007/s00439-012-1255-2
By:
- Han, Shizhong;
- Gelernter, Joel;
- Kranzler, Henry;
- Yang, Bao-Zhu
Publication type:
Article
Functional polymorphisms in NFκB1/ IκBα predict risks of chronic obstructive pulmonary disease and lung cancer in Chinese.
Published in:
Human Genetics, 2013, v. 132, n. 4, p. 451, doi. 10.1007/s00439-013-1264-9
By:
- Huang, Dongsheng;
- Yang, Lei;
- Liu, Yehua;
- Zhou, Yumin;
- Guo, Yuan;
- Pan, Mingan;
- Wang, Yunnan;
- Tan, Yigang;
- Zhong, Haibo;
- Hu, Min;
- Lu, Wenju;
- Ji, Weidong;
- Wang, Jian;
- Ran, Pixin;
- Zhong, Nanshan;
- Zhou, Yifeng;
- Lu, Jiachun
Publication type:
Article
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
Published in:
Human Genetics, 2013, v. 132, n. 4, p. 473, doi. 10.1007/s00439-013-1265-8
By:
- Ballew, Bari;
- Yeager, Meredith;
- Jacobs, Kevin;
- Giri, Neelam;
- Boland, Joseph;
- Burdett, Laurie;
- Alter, Blanche;
- Savage, Sharon
Publication type:
Article