Works matching IS 00034800 AND DT 2019 AND VI 83 AND IP 4

Results: 13

Issue Information.
Published in:
Annals of Human Genetics, 2019, v. 83, n. 4, p. i, doi. 10.1111/ahg.12266
Publication type:
Article
Two novel variants in the ATM gene causing ataxia‐telangiectasia, including a duplication of 90 kb: Utility of targeted next‐generation sequencing in detection of copy number variation.
Published in:
Annals of Human Genetics, 2019, v. 83, n. 4, p. 266, doi. 10.1111/ahg.12312
By:
- Martin‐Rodriguez, Samuel;
- Calvo‐Ferrer, Alicia;
- Ortega‐Unanue, Nerea;
- Samaniego‐Jimenez, Laura;
- Sanz‐Izquierdo, Maria Pilar;
- Bernardo‐Gonzalez, Ivan
Publication type:
Article
Association of rs10490924 in ARMS2/HTRA1 with age‐related macular degeneration in the Pakistani population.
Published in:
Annals of Human Genetics, 2019, v. 83, n. 4, p. 285, doi. 10.1111/ahg.12311
By:
- Ayub, Humaira;
- Shafique, Sobia;
- Azam, Aisha;
- Muslim, Irfan;
- Qazi, Nauman A;
- Akhtar, Farah;
- Khan, Muhammad Asim;
- Ayub, Adil;
- Bashir, Shaheena;
- Bakker, Bjorn;
- Ahmed, Shakil;
- Azam, Maleeha;
- Hollander, Anneke I.;
- Qamar, Raheel
Publication type:
Article
Association of single nucleotide polymorphisms in TPM1 rs11071720, rs3803499, rs12148828, and rs1972041 with the risk of nonsyndromic cleft lip with or without cleft palate in a sample of the Iranian population, a preliminary report.
Published in:
Annals of Human Genetics, 2019, v. 83, n. 4, p. 256, doi. 10.1111/ahg.12310
By:
- Rafighdoost, Houshang;
- Tabatabaei, Fatemeh;
- Bahari, Gholamreza;
- Hashemi, Mohammad
Publication type:
Article
Influence of STAT4 gene polymorphisms in the pathogenesis of endometriosis.
Published in:
Annals of Human Genetics, 2019, v. 83, n. 4, p. 249, doi. 10.1111/ahg.12309
By:
- Bianco, Bianca;
- Fernandes, Ramon Felix Martins;
- Trevisan, Camila Martins;
- Christofolini, Denise M.;
- Sanz‐Lomana, Carlos Millán;
- Bernabe, Javier Valero;
- Barbosa, Caio P.
Publication type:
Article
Consanguinity: A blessing or menace at population level?
Published in:
Annals of Human Genetics, 2019, v. 83, n. 4, p. 214, doi. 10.1111/ahg.12308
By:
- Bhinder, Munir Ahmad;
- Sadia, Haleema;
- Mahmood, Nasir;
- Qasim, Muhammad;
- Hussain, Zawar;
- Rashid, Muhammad Mudassar;
- Zahoor, Muhammad Yasir;
- Bhatti, Rashid;
- Shehzad, Wasim;
- Waryah, Ali Muhammad;
- Jahan, Shah
Publication type:
Article
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
Published in:
Annals of Human Genetics, 2019, v. 83, n. 4, p. 278, doi. 10.1111/ahg.12307
By:
- Gul, Hadia;
- Shah, Abdul Haleem;
- Harripaul, Ricardo;
- Mikhailov, Anna;
- Prajapati, Kamalben;
- Khan, Ejazullah;
- Ullah, Farman;
- Zubair, Muhammad;
- Ali, Muhammad Zeeshan;
- Shah, Ayesha Haleem;
- Salman, Said;
- Khan, Saadullah;
- Vincent, John B.;
- Khan, Muzammil Ahmad
Publication type:
Article
The epigenetics of the hypothalamic‐pituitary‐adrenal axis in fetal development.
Published in:
Annals of Human Genetics, 2019, v. 83, n. 4, p. 195, doi. 10.1111/ahg.12306
By:
- Montenegro, Yorran Hardman A.;
- Queiroga Nascimento, Denise;
- Assis, Thiago Oliveira;
- Santos‐Lopes, Simone Silva Dos
Publication type:
Article
Significant association of rare variant p.Gly8Ser in cardiac sodium channel β4‐subunit SCN4B with atrial fibrillation.
Published in:
Annals of Human Genetics, 2019, v. 83, n. 4, p. 239, doi. 10.1111/ahg.12305
By:
- Xiong, Hongbo;
- Yang, Qin;
- Zhang, Xiaoping;
- Wang, Pengxia;
- Chen, Feifei;
- Liu, Ying;
- Wang, Pengyun;
- Zhao, Yuanyuan;
- Li, Sisi;
- Huang, Yufeng;
- Chen, Shanshan;
- Wang, Xiaojing;
- Zhang, Hongfu;
- Yu, Dong;
- Tan, Chencheng;
- Fang, Cheng;
- Huang, Yuan;
- Wu, Gang;
- Wu, Yanxia;
- Cheng, Xiang
Publication type:
Article
Regions of homozygosity as risk factors for multiple myeloma.
Published in:
Annals of Human Genetics, 2019, v. 83, n. 4, p. 231, doi. 10.1111/ahg.12304
By:
- Went, Molly;
- Sud, Amit;
- Li, Ni;
- Johnson, David C.;
- Mitchell, Jonathan S.;
- Kaiser, Martin;
- Houlston, Richard S.
Publication type:
Article
The mitochondrial DNA 4977‐bp deletion and copy number alteration in Han Chinese samples with uterine fibroids.
Published in:
Annals of Human Genetics, 2019, v. 83, n. 4, p. 220, doi. 10.1111/ahg.12303
By:
- Luo, Yong;
- Zou, Yang;
- Wu, Juan;
- Zhang, Zi‐Yu;
- Liu, Fa‐Ying;
- Li, Li‐Ping;
- Huang, Ou‐Ping
Publication type:
Article
Clinical relevance of genome‐wide polygenic score may be less than claimed.
Published in:
Annals of Human Genetics, 2019, v. 83, n. 4, p. 274, doi. 10.1111/ahg.12302
By:
- Curtis, David
Publication type:
Article
Issue Information.
Published in:
Annals of Human Genetics, 2019, v. 83, n. 4, p. 1, doi. 10.1111/ahg.12266
Publication type:
Article