Works matching IS 00034800 AND DT 2020 AND VI 84 AND IP 5

Results: 8

Identification and functional characterization of CYP4V2 genetic variants exhibiting decreased activity of lauric acid metabolism.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 5, p. 400, doi. 10.1111/ahg.12388

By:

Jarrar, Yazun Bashir;
Shin, Jae‐Gook;
Lee, Su‐Jun

Publication type:

Article

Lack of association between the GNB3 rs5443, HIF1A rs11549465 polymorphisms, physiological and functional characteristics.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 5, p. 393, doi. 10.1111/ahg.12387

By:

Bosnyák, Edit;
Trájer, Emese;
Alszászi, Gabriella;
Móra, Ákos;
Györe, István;
Udvardy, Anna;
Tóth, Miklós;
Szmodis, Márta

Publication type:

Article

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 5, p. 380, doi. 10.1111/ahg.12386

By:

Čopíková, Jana;
Paděrová, Jana;
Románková, Věra;
Havlovicová, Markéta;
Balaščáková, Miroslava;
Zelinová, Michaela;
Vejvalková, Šárka;
Simandlová, Martina;
Štěpánková, Jana;
Hořínová, Věra;
Kantorová, Eva;
Křečková, Gabriela;
Pospíšilová, Jana;
Boday, Arpád;
Meszarosová, Anna Uhrová;
Turnovec, Marek;
Votýpka, Pavel;
Lišková, Petra;
Kremlíková Pourová, Radka

Publication type:

Article

MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 5, p. 370, doi. 10.1111/ahg.12385

By:

Alsubaie, Lamia;
Alkhalaf, Randa;
Aloraini, Taghrid;
Amoudi, Manal;
Swaid, Abdulrahman;
Al Mutairi, Fuad;
Alfadhel, Majid;
Eyaid1, Wafaa;
Sewairi, Wafaa;
Alfares, Ahmed

Publication type:

Article

Genetic structure of the ethnic Lao groups from mainland Southeast Asia revealed by forensic microsatellites.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 5, p. 357, doi. 10.1111/ahg.12379

By:

Srithawong, Suparat;
Muisuk, Kanha;
Srikummool, Metawee;
Mahasirikul, Narongdet;
Triyarach, Saksuriya;
Sriprasert, Kamnikone;
Kutanan, Wibhu

Publication type:

Article

LD scores are associated with differences in allele frequencies between populations but LD score regression can still distinguish confounding from polygenicity.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 5, p. 412, doi. 10.1111/ahg.12370

By:

Alexander, Mason;
Curtis, David

Publication type:

Article

Issue Information.

Published in:: Annals of Human Genetics, 2020, v. 84, n. 5, p. 1, doi. 10.1111/ahg.12333
Publication type:: Article

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

Published in:

Annals of Human Genetics, 2020, v. 84, n. 5, p. 417, doi. 10.1111/ahg.12384

By:

Gotta, Fabio;
Lamp, Merit;
Geroldi, Alessandro;
Trevisan, Lucia;
Origone, Paola;
Fugazza, Giuseppina;
Fabbri, Sabrina;
Nesti, Claudia;
Rubegni, Anna;
Morani, Federica;
Santorelli, Filippo Maria;
Bellone, Emilia;
Mandich, Paola

Publication type:

Article