Works matching AU Abdulrahim, Maha

Results: 5

Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 1985, doi. 10.1002/humu.23844
By:
- Suleiman, Jehan;
- Riedhammer, Korbinian M.;
- Jicinsky, Timothy;
- Mundt, Melinda;
- Werner, Laurie;
- Gusic, Mirjana;
- Burgemeister, Anna L.;
- Alsaif, Hessa S.;
- Abdulrahim, Maha;
- Moghrabi, Nabil N;
- Nicolas‐Jilwan, Manal;
- AlSayed, Moeenaldeen;
- Bi, Weimin;
- Sampath, Srirangan;
- Alkuraya, Fowzan S.;
- El‐Hattab, Ayman W.
Publication type:
Article
The Status of B Vitamin in Saudi Adults: A Review.
Published in:
Current Research in Nutrition & Food Science, 2023, v. 11, n. 3, p. 894, doi. 10.12944/CRNFSJ.11.3.01
By:
- ALJAADI, ABEER M.;
- ALSUNAID, FAHDAH F.;
- ABDULRAHIM, MAHA;
- ALMEHMADI, NAJLAA H.;
- ALZABEN, ABEER SALMAN
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
SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 75, doi. 10.1002/jmd2.12218
By:
- Aldosary, Mazhor;
- Baselm, Shahad;
- Abdulrahim, Maha;
- Almass, Rawan;
- Alsagob, Maysoon;
- AlMasseri, Zainab;
- Huma, Rozeena;
- AlQuait, Laila;
- Al‐Shidi, Tarfa;
- Al‐Obeid, Eman;
- AlBakheet, Albandary;
- Alahideb, Basma;
- Alahaidib, Lujane;
- Qari, Alya;
- Taylor, Robert W.;
- Colak, Dilek;
- AlSayed, Moeenaldeen D.;
- Kaya, Namik
Publication type:
Article
Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.
Published in:
2024
By:
- Elsayed, Liena Elbaghir Omer;
- AlHarbi, Norah Ayed;
- Alqarni, Ashwaq Mohammed;
- Eltayeb, Huda Hussein Elwasila;
- Mostafa, Noura Mostafa Mohamed;
- Abdulrahim, Maha Mohammed;
- Zaid, Hadeel Ibrahim Bin;
- Alanzi, Latifah Mansour;
- Ababtain, Sarah Abdullah;
- Aldulaijan, Khawlah;
- Aloyouni, Sheka Yagub;
- Othman, Moneeb Abdullah Kassem;
- Alkheilewi, Mohammad Abdullah;
- Binduraihem, Adel Mohammed;
- Alrukban, Hadeel Abdollah;
- Ahmed, Hiba Yousif;
- AlRadini, Faten Abdullah;
- Alahdal, Hadil Mohammad;
- Mushiba, Aziza Mufareh;
- Alzaher, Omaima Abdulazeem
Publication type:
Correction Notice

Works matching AU Abdulrahim, Maha

Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.

The Status of B Vitamin in Saudi Adults: A Review.

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

SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.

Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.