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

Results: 9

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
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
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
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