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