Works matching IS 03406717 AND DT 2022 AND VI 141 AND IP 12

Results: 9

Clinical characteristics and comorbidities of COVID-19 in unvaccinated patients with Down syndrome: first year report in Brazil.
Published in:
Human Genetics, 2022, v. 141, n. 12, p. 1887, doi. 10.1007/s00439-022-02468-3
By:
- Boschiero, Matheus Negri;
- Palamim, Camila Vantini Capasso;
- Ortega, Manoela Marques;
- Marson, Fernando Augusto Lima
Publication type:
Article
Locus-level antagonistic selection shaped the polygenic architecture of human complex diseases.
Published in:
Human Genetics, 2022, v. 141, n. 12, p. 1935, doi. 10.1007/s00439-022-02471-8
By:
- Song, Weichen;
- Yuan, Kai;
- Liu, Zhe;
- Cai, Wenxiang;
- Chen, Jue;
- Yu, Shunying;
- Zhao, Min;
- Lin, Guan Ning
Publication type:
Article
Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer.
Published in:
Human Genetics, 2022, v. 141, n. 12, p. 1925, doi. 10.1007/s00439-022-02470-9
By:
- Djursby, Malene;
- Hansen, Thomas van Overeem;
- Wadt, Karin A. W.;
- Madsen, Majbritt Busk;
- Berchtold, Lukas Adrian;
- Lautrup, Charlotte Kvist;
- Markholt, Sara;
- Jensen, Uffe Birk;
- Krogh, Lotte Nylandsted;
- Lundsgaard, Malene;
- Gerdes, Anne Marie;
- Nilbert, Mef;
- Therkildsen, Christina
Publication type:
Article
The heritability of vocal tract structures estimated from structural MRI in a large cohort of Dutch twins.
Published in:
Human Genetics, 2022, v. 141, n. 12, p. 1905, doi. 10.1007/s00439-022-02469-2
By:
- Dediu, Dan;
- Jennings, Emily M.;
- van't Ent, Dennis;
- Moisik, Scott R.;
- Di Pisa, Grazia;
- Schulze, Janna;
- de Geus, Eco J. C.;
- den Braber, Anouk;
- Dolan, Conor V.;
- Boomsma, Dorret I.
Publication type:
Article
A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.
Published in:
Human Genetics, 2022, v. 141, n. 12, p. 1875, doi. 10.1007/s00439-022-02466-5
By:
- Sam, Jordan;
- Reble, Emma;
- Kodida, Rita;
- Shaw, Angela;
- Clausen, Marc;
- Salazar, Mariana Gutierrez;
- Shickh, Salma;
- Mighton, Chloe;
- Carroll, June C.;
- Armel, Susan Randall;
- Aronson, Melyssa;
- Capo-Chichi, José-Mario;
- Cohn, Iris;
- Eisen, Andrea;
- Elser, Christine;
- Graham, Tracy;
- Ott, Karen;
- Panchal, Seema;
- Piccinin, Carolyn;
- Schrader, Kasmintan A.
Publication type:
Article
46,XY disorders of sex development: the use of NGS for prevalent variants.
Published in:
Human Genetics, 2022, v. 141, n. 12, p. 1863, doi. 10.1007/s00439-022-02465-6
By:
- Xie, Qi-Gen;
- Luo, Peng;
- Xia, Kai;
- Li, Zuo-Qing;
- Xu, Zhe;
- Su, Cheng;
- Deng, Chun-Hua
Publication type:
Article
GATA4 and estrogen receptor alpha bind at SNPs rs9921222 and rs10794639 to regulate AXIN1 expression in osteoblasts.
Published in:
Human Genetics, 2022, v. 141, n. 12, p. 1849, doi. 10.1007/s00439-022-02463-8
By:
- Suthon, Sarocha;
- Perkins, Rachel S.;
- Lin, Jianjian;
- Crockarell Jr, John R.;
- Miranda-Carboni, Gustavo A.;
- Krum, Susan A.
Publication type:
Article
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair.
Published in:
Human Genetics, 2022, v. 141, n. 12, p. 1811, doi. 10.1007/s00439-022-02462-9
By:
- Peake, Jasmine D.;
- Noguchi, Eishi
Publication type:
Article
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research.
Published in:
2022
By:
- Zampeta, F. Isabella;
- Distel, Ben;
- Elgersma, Ype;
- Iping, Rik
Publication type:
Editorial