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Works matching IS 00034800 AND DT 2022 AND VI 86 AND IP 1

Results: 7

1

Clinical features of patients with Yin Yang 1 deficiency causing Gabriele‐de Vries syndrome: A new case and review of the literature.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 1, p. 52, doi. 10.1111/ahg.12448

By:

Khamirani, Hossein Jafari;
Zoghi, Sina;
Namdar, Zahra Mehdipour;
Kamal, Neda;
Dianatpour, Mehdi;
Tabei, Seyed Mohammad Bagher;
Mohammadi, Sanaz;
Dehghanian, Fatemeh;
Farbod, Zahra;
Dastgheib, Seyed Alireza

Publication type:

Article

2

Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 1, p. 45, doi. 10.1111/ahg.12447

By:

Morton, Cynthia C.;
Marazita, Mary L.;
Peter, Beate;
Rice, Mabel L.;
Kraft, Shelly Jo;
Barkmeier‐Kraemer, Julie;
Balaban, Carey;
Phillips, Michael;
Schoden, Jennifer;
Maiese, Deborah;
Hendershot, Tabitha;
Hamilton, Carol M.

Publication type:

Article

3

Genetics of ataxia telangiectasia in a highly consanguineous population.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 1, p. 34, doi. 10.1111/ahg.12445

By:

Al‐Muhaizea, Mohammed A.;
Aldeeb, Hanouf;
Almass, Rawan;
Jaber, Hadeel;
Binhumaid, Felwa;
Alquait, Laila;
Abukhalid, Musaad;
Aldhalaan, Hesham;
Alsagob, Maysoon;
Al‐Bakheet, Albandary;
Aldosary, Mazhor;
Alkofide, Hadeel;
Alrasheed, Maha M.;
Colak, Dilek;
Kaya, Namik

Publication type:

Article

4

The hazards of genotype imputation in chromosomal regions under selection: A case study using the Lactase gene region.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 1, p. 24, doi. 10.1111/ahg.12444

By:

Ali, Aminah T.;
Liebert, Anke;
Lau, Winston;
Maniatis, Nikolas;
Swallow, Dallas M.

Publication type:

Article

5

Interaction between the genetic variant of rs696217‐ghrelin and food intake and obesity and dyslipidemia.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 1, p. 14, doi. 10.1111/ahg.12443

By:

Yadegari, Mehran;
Zare‐Feyzabadi, Reza;
Zakariaeiseraji, Mohanna;
Sahebi, Reza;
Shabani, Niloofar;
Khedmatgozar, Hamed;
Ferns, Gordon A.;
Ghazizadeh, Hamideh;
Mohammadi‐Bajgiran, Maryam;
Jalalian, Melika;
Zoghi, Mohadese;
Darban, Reza Assaran;
Mohammadian‐Ghosooni, Mahdi;
Esmaily, Habibollah;
Avan, Amir;
Ghayour‐Mobarhan, Majid

Publication type:

Article

6

PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 1, p. 1, doi. 10.1111/ahg.12442

By:

Vanniya. S, Paridhy;
Chandru, Jayasankaran;
Jeffrey, Justin Margret;
Rabinowitz, Tom;
Brownstein, Zippora;
Krishnamoorthy, Mathuravalli;
Avraham, Karen B.;
Cheng, Le;
Shomron, Noam;
Srisailapathy, C. R. Srikumari

Publication type:

Article

7

Issue Information.

Published in:: Annals of Human Genetics, 2022, v. 86, n. 1, p. i, doi. 10.1111/ahg.12430
Publication type:: Article