Works matching AU Al‐Balool, Haya H.

Results: 3

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. 1731, doi. 10.1002/humu.23777
By:
- Saoura, Makenzie;
- Powell, Christopher A.;
- Kopajtich, Robert;
- Alahmad, Ahmad;
- AL‐Balool, Haya H.;
- Albash, Buthaina;
- Alfadhel, Majid;
- Alston, Charlotte L.;
- Bertini, Enrico;
- Bonnen, Penelope E.;
- Bratkovic, Drago;
- Carrozzo, Rosalba;
- Donati, Maria A.;
- Di Nottia, Michela;
- Ghezzi, Daniele;
- Goldstein, Amy;
- Haan, Eric;
- Horvath, Rita;
- Hughes, Joanne;
- Invernizzi, Federica
Publication type:
Article
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
By:
- Alabdulrazzaq, Fatima;
- Alanzi, Talal;
- Al‐Balool, Haya H.;
- Gardham, Alice;
- Wakeling, Emma;
- Leitch, Harry G.;
- AlSayed, Moeenaldeen;
- Abdulrahim, Maha;
- Aladwani, Abdulaziz;
- Romito, Antonio;
- Kampe, Kapil;
- Ferdinandusse, Sacha;
- Aboelanine, Ashraf H.;
- Abdullah, Amira;
- Alwadani, Amal;
- Bastaki, Laila;
- Vaz, Frédéric M.;
- Bertoli‐Avella, Aida M.;
- Marafi, Dana
Publication type:
Article
Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies—Expanding the Phenotype.
Published in:
Genes, 2023, v. 14, n. 6, p. 1225, doi. 10.3390/genes14061225
By:
- Almoosawy, Noor;
- Albaghli, Fawaz;
- Al-Balool, Haya H.;
- Fathi, Hanan;
- Zakaria, Waleed A.;
- Ayed, Mariam;
- Alsharhan, Hind
Publication type:
Article

Works matching AU Al‐Balool, Haya H.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing.

Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.

Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies—Expanding the Phenotype.