Works matching IS 03406717 AND DT 2017 AND VI 136 AND IP 11/12

Results: 11

Genome-wide compound heterozygote analysis highlights alleles associated with adult height in Europeans.
Published in:
Human Genetics, 2017, v. 136, n. 11/12, p. 1407, doi. 10.1007/s00439-017-1842-3
By:
- Zhong, Kaiyin;
- Zhu, Gu;
- Jing, Xiaoxi;
- Hendriks, A.;
- Drop, Sten;
- Ikram, M.;
- Gordon, Scott;
- Zeng, Changqing;
- Uitterlinden, Andre;
- Martin, Nicholas;
- Liu, Fan;
- Kayser, Manfred
Publication type:
Article
Expanding the genetic heterogeneity of intellectual disability.
Published in:
Human Genetics, 2017, v. 136, n. 11/12, p. 1419, doi. 10.1007/s00439-017-1843-2
By:
- Anazi, Shams;
- Maddirevula, Sateesh;
- Salpietro, Vincenzo;
- Asi, Yasmine;
- Alsahli, Saud;
- Alhashem, Amal;
- Shamseldin, Hanan;
- AlZahrani, Fatema;
- Patel, Nisha;
- Ibrahim, Niema;
- Abdulwahab, Firdous;
- Hashem, Mais;
- Alhashmi, Nadia;
- Al Murshedi, Fathiya;
- Al Kindy, Adila;
- Alshaer, Ahmad;
- Rumayyan, Ahmed;
- Al Tala, Saeed;
- Kurdi, Wesam;
- Alsaman, Abdulaziz
Publication type:
Article
ZP2 heterozygous mutation in an infertile woman.
Published in:
2017
By:
- Barbaux, Sandrine;
- El Khattabi, Laïla;
- Ziyyat, Ahmed
Publication type:
Letter
Expanding the spectrum of germline variants in cancer.
Published in:
Human Genetics, 2017, v. 136, n. 11/12, p. 1431, doi. 10.1007/s00439-017-1845-0
By:
- Siraj, Abdul;
- Masoodi, Tariq;
- Bu, Rong;
- Parvathareddy, Sandeep;
- Al-Badawi, Ismail;
- Al-Sanea, Nasser;
- Ashari, Luai;
- Abduljabbar, Alaa;
- Alhomoud, Samar;
- Al-Sobhi, Saif;
- Tulbah, Asma;
- Ajarim, Dahish;
- Alzoman, Khalid;
- Aljuboury, Muna;
- Yousef, Hussam;
- Al-Dawish, Mohammed;
- Al-Dayel, Fouad;
- Alkuraya, Fowzan;
- Al-Kuraya, Khawla
Publication type:
Article
Erratum to: A multi-stage genome-wide association study of uterine fibroids in African Americans.
Published in:
2017
By:
- Hellwege, Jacklyn;
- Jeff, Janina;
- Wise, Lauren;
- Gallagher, C.;
- Wellons, Melissa;
- Hartmann, Katherine;
- Jones, Sarah;
- Torstenson, Eric;
- Dickinson, Scott;
- Ruiz-Narváez, Edward;
- Rohland, Nadin;
- Allen, Alexander;
- Reich, David;
- Tandon, Arti;
- Pasaniuc, Bogdan;
- Mancuso, Nicholas;
- Im, Hae;
- Hinds, David;
- Palmer, Julie;
- Rosenberg, Lynn
Publication type:
Erratum
World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection.
Published in:
Human Genetics, 2017, v. 136, n. 11/12, p. 1445, doi. 10.1007/s00439-017-1847-y
By:
- Liebert, Anke;
- López, Saioa;
- Jones, Bryony;
- Montalva, Nicolas;
- Gerbault, Pascale;
- Lau, Winston;
- Thomas, Mark;
- Bradman, Neil;
- Maniatis, Nikolas;
- Swallow, Dallas
Publication type:
Article
Additive-effect pattern of both ZP2 and ZP3 in human and mouse.
Published in:
2017
By:
- Liu, Wenqiang;
- Bai, Dandan;
- Chen, Jiayu;
- Gao, Shaorong
Publication type:
Letter
A functional strategy to characterize expression Quantitative Trait Loci.
Published in:
Human Genetics, 2017, v. 136, n. 11/12, p. 1477, doi. 10.1007/s00439-017-1849-9
By:
- Grassi, Elena;
- Mariella, Elisa;
- Forneris, Mattia;
- Marotta, Federico;
- Catapano, Marika;
- Molineris, Ivan;
- Provero, Paolo
Publication type:
Article
Mutations of PTPN23 in developmental and epileptic encephalopathy.
Published in:
Human Genetics, 2017, v. 136, n. 11/12, p. 1455, doi. 10.1007/s00439-017-1850-3
By:
- Sowada, Nadine;
- Hashem, Mais;
- Yilmaz, Rüstem;
- Hamad, Muddathir;
- Kakar, Naseebullah;
- Thiele, Holger;
- Arold, Stefan;
- Bode, Harald;
- Alkuraya, Fowzan;
- Borck, Guntram
Publication type:
Article
Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.
Published in:
Human Genetics, 2017, v. 136, n. 11/12, p. 1463, doi. 10.1007/s00439-017-1851-2
By:
- Hai, Tang;
- Guo, Weiwei;
- Yao, Jing;
- Cao, Chunwei;
- Luo, Ailing;
- Qi, Meng;
- Wang, Xianlong;
- Wang, Xiao;
- Huang, Jiaojiao;
- Zhang, Ying;
- Zhang, Hongyong;
- Wang, Dayu;
- Shang, Haitao;
- Hong, Qianlong;
- Zhang, Rui;
- Jia, Qitao;
- Zheng, Qiantao;
- Qin, Guosong;
- Li, Yongshun;
- Zhang, Tao
Publication type:
Article
Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC.
Published in:
Human Genetics, 2017, v. 136, n. 11/12, p. 1395, doi. 10.1007/s00439-017-1838-z
By:
- Adams, Andrew;
- Smith, Shelley;
- Truong, Dongnhu;
- Willcutt, Erik;
- Olson, Richard;
- DeFries, John;
- Pennington, Bruce;
- Gruen, Jeffrey
Publication type:
Article