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

Results: 7

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

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

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

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

Genetics of ataxia telangiectasia in a highly consanguineous population.

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

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

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

Issue Information.