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Works matching IS 00034800 AND DT 2022 AND VI 86 AND IP 2

Results: 7

1

Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 2, p. 87, doi. 10.1111/ahg.12451

By:

Rizo‐delaTorre, Lourdes del Carmen;
Herrera‐Tirado, Isis Mariela;
Hernández‐Peña, Rubiceli;
Ibarra‐Cortés, Bertha;
Perea‐Díaz, Francisco Javier

Publication type:

Article

2

Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 2, p. 102, doi. 10.1111/ahg.12453

By:

Botton, Mariana Rodrigues;
Hentschke‐Lopes, Marina;
Matte, Ursula

Publication type:

Article

3

Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 2, p. 94, doi. 10.1111/ahg.12452

By:

Majethia, Purvi;
Do Rosario, Michelle C.;
Kaur, Parneet;
Karanvir;
Shankar, Raagul;
Sharma, Suvasini;
Siddiqui, Shahyan;
Shukla, Anju

Publication type:

Article

4

CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 2, p. 80, doi. 10.1111/ahg.12450

By:

Farra, Chantal;
Awwad, Johnny;
Hamadeh, Lama;
Khoueiry, Pierre;
Halawi, Zeina;
Yazbeck, Nadine;
Daher, Rose;
Souaid, Mirna;
Hamdar, Layal;
Yammine, Tony;
Yunis, Khalid

Publication type:

Article

5

Expanding the clinico‐molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 2, p. 71, doi. 10.1111/ahg.12449

By:

Iyer, Gayatri R.;
Utage, Prashant;
Devi, Radha Rama;
Vattam, Kiran Kumar;
Hasan, Qurratulain

Publication type:

Article

6

Identification of the β thalassemia allele β<sup>–50</sup> and analysis of the hematology data of carriers in a southern Chinese population.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 2, p. 63, doi. 10.1111/ahg.12446

By:

Long, Ju;
Liu, Enqi

Publication type:

Article

7

Issue Information.

Published in:: Annals of Human Genetics, 2022, v. 86, n. 2, p. i, doi. 10.1111/ahg.12431
Publication type:: Article