Works matching IS 03406717 AND DT 2024 AND VI 143 AND IP 2

Results: 9

Screening copy number variations in 35 unsolved inherited retinal disease families.

Published in:

Human Genetics, 2024, v. 143, n. 2, p. 197, doi. 10.1007/s00439-023-02631-4

By:

Liu, Xiaozhen;
Dai, Hehua;
Li, Genlin;
Jia, Ruixuan;
Meng, Xiang;
Yu, Shicheng;
Yang, Liping;
Hong, Jing

Publication type:

Article

Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder.

Published in:

Human Genetics, 2024, v. 143, n. 2, p. 169, doi. 10.1007/s00439-023-02636-z

By:

Yahia, Ashraf;
Li, Danyang;
Lejerkrans, Sanna;
Rajagopalan, Shyam;
Kalnak, Nelli;
Tammimies, Kristiina

Publication type:

Article

The pivotal role of long non-coding RNAs as potential biomarkers and modulators of chemoresistance in ovarian cancer (OC).

Published in:

Human Genetics, 2024, v. 143, n. 2, p. 107, doi. 10.1007/s00439-023-02635-0

By:

Malgundkar, Shika Hanif;
Tamimi, Yahya

Publication type:

Article

Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes.

Published in:

Human Genetics, 2024, v. 143, n. 2, p. 159, doi. 10.1007/s00439-023-02634-1

By:

Schmidt, Julia;
Kaulfuß, Silke;
Ott, Hagen;
Gaubert, Marianne;
Reintjes, Nadine;
Bremmer, Felix;
Dreha-Kulaczewski, Steffi;
Stroebel, Philipp;
Yigit, Gökhan;
Wollnik, Bernd

Publication type:

Article

Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism.

Published in:

2024

By:

Al Masseri, Zainab;
Alqahtani, Mashael;
Almoshawer, Eman;
Alkuraya, Fowzan S.

Publication type:

Case Study

Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants.

Published in:

Human Genetics, 2024, v. 143, n. 2, p. 185, doi. 10.1007/s00439-023-02637-y

By:

Aminbeidokhti, Mona;
Qu, Jia-Hua;
Belur, Shweta;
Cakmak, Hakan;
Jaswa, Eleni;
Lathi, Ruth B.;
Sirota, Marina;
Snyder, Michael P.;
Yatsenko, Svetlana A.;
Rajkovic, Aleksandar

Publication type:

Article

Genome-wide DNA methylation of lesional and peri-lesional skin in vitiligo: a comparative and integrated analysis of multi-omics in Chinese population.

Published in:

Human Genetics, 2024, v. 143, n. 2, p. 137, doi. 10.1007/s00439-023-02630-5

By:

Liu, Lin;
Xue, Yuzhou;
Li, Yuxin;
Chen, Yangmei;
Pan, Xingyu;
Huang, Yujing;
Chen, Tingqiao;
Zhong, Judan;
Shao, Xinyi;
Pu, Yihuan;
Chen, Jin

Publication type:

Article

Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia.

Published in:

Human Genetics, 2024, v. 143, n. 2, p. 125, doi. 10.1007/s00439-023-02628-z

By:

Abouelhoda, Mohamed;
Almuqati, Noura;
Abogosh, Ahmed;
Alfraih, Feras;
Maddirevula, Sateesh;
Alkuraya, Fowzan S.

Publication type:

Article

Mitochondrial genetic variation and risk of chronic kidney disease and acute kidney injury in UK Biobank participants.

Published in:

Human Genetics, 2024, v. 143, n. 2, p. 151, doi. 10.1007/s00439-023-02615-4

By:

Jotwani, Vasantha;
Yang, Stephanie Y.;
Thiessen-Philbrook, Heather;
Parikh, Chirag R.;
Katz, Ronit;
Tranah, Gregory J.;
Ix, Joachim H.;
Cummings, Steve;
Waikar, Sushrut S.;
Shlipak, Michael G.;
Sarnak, Mark J.;
Parikh, Samir M.;
Arking, Dan E.

Publication type:

Article