Kheloud M Alhamoudi

发表

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

Muhammad Umair, M. Alfadhel, F. Al Mutairi, 2020, BMC Pulmonary Medicine.

Studying the effects of DNA replication stress on genome integrity and cell viability

Kheloud M Alhamoudi, Kheloud M. Alhamoudi, 2018 .

A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy

Muhammad Umair, M. Alfadhel, Manal A. Alaamery, 2021, Scientific Reports.

MTH1 deficiency selectively increases non-cytotoxic oxidative DNA damage in lung cancer cells: more bad news than good?

Steven S. Foster, M. Evans, George D.D. Jones, 2017, bioRxiv.

Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum

Bahauddeen M. Alrfaei, Muhammad Umair, M. Alfadhel, 2021, Genes.

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

R. Hoehndorf, Azza Althagafi, Muhammad Umair, 2020, Clinical genetics.

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

Muhammad Umair, M. Alfadhel, Bader Almuzzaini, 2020, Annals of clinical and translational neurology.

Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish

Muhammad Umair, M. Alfadhel, M. Wadaan, 2021, Frontiers in Cell and Developmental Biology.

A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia

Muhammad Umair, M. Alfadhel, Marwan Nashabat, 2020, Frontiers in Pediatrics.

Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant

A. Alzahrani, H. Al-Hindi, A. Aljomaiah, 2022, Frontiers in Genetics.