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Mohammed Almannai

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Frontiers in Pediatrics|May 31, 2021

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic DataMajid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, et al.

American Journal of Human Genetics|February 23, 2022

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.

American Journal of Human Genetics|December 13, 2016

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationKezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, et al.

Human Mutation|September 24, 2017

Molecular and clinical spectra of FBXL4 deficiencyAyman W El-Hattab, Hongzheng Dai, Mohammed Almannai, et al.

Genome Medicine|September 30, 2025

Adult genomic medicine: lessons from a multisite study of 2700 patientsKhadijah Bakur, Halima Hamid, Bader Alhaddad, et al.

Human Mutation|March 1, 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported IndividualsBobby G Ng, Paulina Sosicka, Satish Agadi, et al.

Pageof 6

Search research articles

Showing results (51-60 of 56) with videos related to

Sort By:

Pageof 6

You have reached the last page of results.This site can display upto 56 results.

Frontiers in Pediatrics|May 31, 2021

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic DataMajid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, et al.

American Journal of Human Genetics|February 23, 2022

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.

American Journal of Human Genetics|December 13, 2016

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationKezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, et al.

Human Mutation|September 24, 2017

Molecular and clinical spectra of FBXL4 deficiencyAyman W El-Hattab, Hongzheng Dai, Mohammed Almannai, et al.

Genome Medicine|September 30, 2025

Adult genomic medicine: lessons from a multisite study of 2700 patientsKhadijah Bakur, Halima Hamid, Bader Alhaddad, et al.

Human Mutation|March 1, 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported IndividualsBobby G Ng, Paulina Sosicka, Satish Agadi, et al.

Pageof 6