Works matching IS 00034800 AND DT 2020 AND VI 84 AND IP 2

Results: 12

Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 2, p. 125, doi. 10.1111/ahg.12364

By:

Vollger, Mitchell R.;
Logsdon, Glennis A.;
Audano, Peter A.;
Sulovari, Arvis;
Porubsky, David;
Peluso, Paul;
Wenger, Aaron M.;
Concepcion, Gregory T.;
Kronenberg, Zev N.;
Munson, Katherine M.;
Baker, Carl;
Sanders, Ashley D.;
Spierings, Diana C.J.;
Lansdorp, Peter M.;
Surti, Urvashi;
Hunkapiller, Michael W.;
Eichler, Evan E.

Publication type:

Article

Type 2 diabetes–associated polymorphisms correlate with SIRT1 and TGF‐β1 gene expression.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 2, p. 185, doi. 10.1111/ahg.12363

By:

Ramírez, Ángeles;
Hernández, Miriam;
Suárez‐Sánchez, Rocío;
Ortega, Clara;
Peralta, Jesús;
Gómez, Jaime;
Valladares, Adán;
Cruz, Miguel;
Vázquez‐Moreno, Miguel Alexander;
Suárez‐Sánchez, Fernando

Publication type:

Article

Application of targeted exome and whole‐exome sequencing for Chinese families with Stargardt disease.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 2, p. 177, doi. 10.1111/ahg.12361

By:

Dan, Handong;
Huang, Xin;
Xing, Yiqiao;
Shen, Yin

Publication type:

Article

Intrauterine phenotype features of fetuses with Williams–Beuren syndrome and literature review.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 2, p. 169, doi. 10.1111/ahg.12360

By:

Yuan, Meizhen;
Deng, Linbei;
Yang, Yingjun;
Sun, Luming

Publication type:

Article

Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 2, p. 161, doi. 10.1111/ahg.12359

By:

Li, Xin;
Liu, Nian;
Bai, Rong

Publication type:

Article

5α‐Reductase type 2 deficiency in families from an isolated Andean population in Venezuela.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 2, p. 151, doi. 10.1111/ahg.12358

By:

Avendaño, Andrea;
González‐Coira, Mercedes;
Paradisi, Irene;
Rojas, Ascanio;
Da Silva, Gloria;
Gómez‐Pérez, Roald;
Ceballos, Jesús Osuna

Publication type:

Article

Xq26 duplications lead to undergrowth or overgrowth via competing pathways including GPC3/GPC4.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 2, p. 201, doi. 10.1111/ahg.12357

By:

Karna, Gaurav K.;
Myers, Kenneth A.

Publication type:

Article

The role of genetics and epigenetics in the pathogenesis of gestational diabetes mellitus.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 2, p. 114, doi. 10.1111/ahg.12356

By:

Rosik, Jakub;
Szostak, Bartosz;
Machaj, Filip;
Pawlik, Andrzej

Publication type:

Article

MTF1 binds to metal‐responsive element e within the ATP7B promoter and is a strong candidate in regulating the ATP7B expression.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 2, p. 195, doi. 10.1111/ahg.12355

By:

Stalke, Amelie;
Pfister, Eva‐Doreen;
Baumann, Ulrich;
Illig, Thomas;
Reischl, Eva;
Sandbothe, Maria;
Vajen, Beate;
Huge, Nicole;
Schlegelberger, Brigitte;
von Neuhoff, Nils;
Skawran, Britta

Publication type:

Article

GJB2‐related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 2, p. 107, doi. 10.1111/ahg.12354

By:

Koohiyan, Mahbobeh;
Koohian, Farideh;
Azadegan‐Dehkordi, Fatemeh

Publication type:

Article

Total genotype score and athletic status: An exploratory cross‐sectional study of a Brazilian athlete cohort.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 2, p. 141, doi. 10.1111/ahg.12353

By:

Guilherme, João Paulo Limongi França;
Lancha, Antonio Herbert

Publication type:

Article

Issue Information.

Published in:: Annals of Human Genetics, 2020, v. 84, n. 2, p. 1, doi. 10.1111/ahg.12329
Publication type:: Article