Works matching IS 03406717 AND DT 2017 AND VI 136 AND IP 1

Results: 10

Preferential use of minor codons in the translation initiation region of human genes.
Published in:
Human Genetics, 2017, v. 136, n. 1, p. 67, doi. 10.1007/s00439-016-1735-x
By:
- Park, Jung-Ho;
- Kwon, Munjin;
- Yamaguchi, Yoshihiro;
- Firestein, Bonnie;
- Park, Ji-Young;
- Yun, Jieun;
- Yang, Jeong-Ook;
- Inouye, Masayori
Publication type:
Article
Network analysis of mitonuclear GWAS reveals functional networks and tissue expression profiles of disease-associated genes.
Published in:
Human Genetics, 2017, v. 136, n. 1, p. 55, doi. 10.1007/s00439-016-1736-9
By:
- Johnson, Simon;
- Gonzalez, Brenda;
- Zhang, Quanwei;
- Milholland, Brandon;
- Zhang, Zhengdong;
- Suh, Yousin
Publication type:
Article
Genetic factor common to schizophrenia and HIV infection is associated with risky sexual behavior: antagonistic vs. synergistic pleiotropic SNPs enriched for distinctly different biological functions.
Published in:
Human Genetics, 2017, v. 136, n. 1, p. 75, doi. 10.1007/s00439-016-1737-8
By:
- Wang, Qian;
- Polimanti, Renato;
- Kranzler, Henry;
- Farrer, Lindsay;
- Zhao, Hongyu;
- Gelernter, Joel
Publication type:
Article
CRISPR/Cas9 in zebrafish: an efficient combination for human genetic diseases modeling.
Published in:
Human Genetics, 2017, v. 136, n. 1, p. 1, doi. 10.1007/s00439-016-1739-6
By:
- Liu, Jiaqi;
- Zhou, Yangzhong;
- Qi, Xiaolong;
- Chen, Jia;
- Chen, Weisheng;
- Qiu, Guixing;
- Wu, Zhihong;
- Wu, Nan
Publication type:
Article
KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.
Published in:
Human Genetics, 2017, v. 136, n. 1, p. 99, doi. 10.1007/s00439-016-1741-z
By:
- Shamseldin, Hanan;
- Khalifa, Ola;
- Binamer, Yousef;
- Almutawa, Abdulmonem;
- Arold, Stefan;
- Zaidan, Hamad;
- Alkuraya, Fowzan
Publication type:
Article
Complete mitochondrial genomes of Thai and Lao populations indicate an ancient origin of Austroasiatic groups and demic diffusion in the spread of Tai-Kadai languages.
Published in:
Human Genetics, 2017, v. 136, n. 1, p. 85, doi. 10.1007/s00439-016-1742-y
By:
- Kutanan, Wibhu;
- Kampuansai, Jatupol;
- Srikummool, Metawee;
- Kangwanpong, Daoroong;
- Ghirotto, Silvia;
- Brunelli, Andrea;
- Stoneking, Mark
Publication type:
Article
Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.
Published in:
Human Genetics, 2017, v. 136, n. 1, p. 119, doi. 10.1007/s00439-016-1745-8
By:
- Holt, R.;
- Ugur Iseri, S.;
- Wyatt, A.;
- Bax, D.;
- Gold Diaz, D.;
- Santos, C.;
- Broadgate, S.;
- Dunn, R.;
- Bruty, J.;
- Wallis, Y.;
- McMullan, D.;
- Ogilvie, C.;
- Gerrelli, D.;
- Zhang, Y.;
- Ragge, Nicola
Publication type:
Article
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.
Published in:
Human Genetics, 2017, v. 136, n. 1, p. 107, doi. 10.1007/s00439-016-1746-7
By:
- Pater, Justin;
- Benteau, Tammy;
- Griffin, Anne;
- Penney, Cindy;
- Stanton, Susan;
- Predham, Sarah;
- Kielley, Bernadine;
- Squires, Jessica;
- Zhou, Jiayi;
- Li, Quan;
- Abdelfatah, Nelly;
- O'Rielly, Darren;
- Young, Terry-Lynn
Publication type:
Article
Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach.
Published in:
Human Genetics, 2017, v. 136, n. 1, p. 13, doi. 10.1007/s00439-016-1749-4
By:
- La Cognata, Valentina;
- Morello, Giovanna;
- D'Agata, Velia;
- Cavallaro, Sebastiano
Publication type:
Article
Atlas of human diseases influenced by genetic variants with extreme allele frequency differences.
Published in:
Human Genetics, 2017, v. 136, n. 1, p. 39, doi. 10.1007/s00439-016-1734-y
By:
- Sulovari, Arvis;
- Chen, Yolanda;
- Hudziak, James;
- Li, Dawei
Publication type:
Article