Works matching IS 03406717 AND DT 2025 AND VI 144 AND IP 4

Results: 8

Healthcare professionals' perspectives on and experiences with non-invasive prenatal testing: a systematic review.

Published in:

Human Genetics, 2025, v. 144, n. 4, p. 343, doi. 10.1007/s00439-025-02736-y

By:

Warton, Chanelle;
Vears, Danya F.

Publication type:

Article

The genetic footprint of the European Roma diaspora: evidence from the Balkans to the Iberian Peninsula.

Published in:

Human Genetics, 2025, v. 144, n. 4, p. 463, doi. 10.1007/s00439-025-02735-z

By:

Ena, Giacomo Francesco;
Giménez, Aaron;
Carballo-Mesa, Annabel;
Lišková, Petra;
Araújo Castro e Silva, Marcos;
Comas, David

Publication type:

Article

Mendelian randomization analysis and molecular mechanism study of childhood asthma and obstructive sleep apnea.

Published in:

Human Genetics, 2025, v. 144, n. 4, p. 443, doi. 10.1007/s00439-025-02734-0

By:

Wang, Xinyu;
Zhang, Lin;
Chen, Hao;
Tian, Ting;
Wu, Lulu;
Huang, Yuping;
Cao, Qian;
Zhuang, Lili;
Zhou, Guoping

Publication type:

Article

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.

Published in:

Human Genetics, 2025, v. 144, n. 4, p. 433, doi. 10.1007/s00439-025-02730-4

By:

Serey-Gaut, Margaux;
Balogoun, Ralyath;
Jonard, Laurence;
Lina-Granade, Geneviève;
Touraine, Renaud;
Willems, Marjolaine;
Hepp, Nicola;
Rendtorff, Nanna Dahl;
Bertelsen, Mette;
Loundon, Natalie;
Couloigner, Vincent;
Lemiere, Isabelle;
de Oliveira, Judite;
Romana, Serge;
Porteret, Camille;
Blanc, Pierre;
Mansard, Luke;
Marlin, Sandrine;
Roux, Anne-Françoise;
Pingault, Véronique

Publication type:

Article

Global dysregulation of circular RNAs in frontal cortex and whole blood from DM1 and DM2.

Published in:

Human Genetics, 2025, v. 144, n. 4, p. 417, doi. 10.1007/s00439-025-02729-x

By:

Srinivasan, Arvind;
Magner, Dorota;
Kozłowski, Piotr;
Philips, Anna;
Kajdasz, Arkadiusz;
Wojciechowski, Paweł;
Wojciechowska, Marzena

Publication type:

Article

Decade-long application of preimplantation genetic testing for DMD/BMD: analysis of five clinical strategies and embryo recombination patterns.

Published in:

Human Genetics, 2025, v. 144, n. 4, p. 405, doi. 10.1007/s00439-025-02728-y

By:

Wang, Weili;
Dai, Jing;
Hu, Xiao;
He, Wenbin;
Gu, Yifan;
Wan, Zhenxing;
Zhang, Yi;
Luo, Keli;
Li, Wen;
Zhang, Qianjun;
Gong, Fei;
Lu, Guangxiu;
Hu, Liang;
Tan, Yue-Qiu;
Lin, Ge;
Du, Juan

Publication type:

Article

Conventional and genetic association between migraine and stroke with druggable genome-wide Mendelian randomization.

Published in:

Human Genetics, 2025, v. 144, n. 4, p. 391, doi. 10.1007/s00439-024-02725-7

By:

Wang, Xiaoyu;
Pang, Wendu;
Hu, Xin;
Shu, Tao;
Luo, Yaxin;
Li, Junhong;
Feng, Lan;
Qiu, Ke;
Rao, Yufang;
Song, Yao;
Mao, Minzi;
Zhang, Yuyang;
Ren, Jianjun;
Zhao, Yu

Publication type:

Article

Human organoids for rapid validation of gene variants linked to cochlear malformations.

Published in:

Human Genetics, 2025, v. 144, n. 4, p. 375, doi. 10.1007/s00439-024-02723-9

By:

Zafeer, Mohammad Faraz;
Ramzan, Memoona;
Duman, Duygu;
Mutlu, Ahmet;
Seyhan, Serhat;
Kalcioglu, M. Tayyar;
Fitoz, Suat;
DeRosa, Brooke A.;
Guo, Shengru;
Dykxhoorn, Derek M.;
Tekin, Mustafa

Publication type:

Article