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

por Alhamoudi, Kheloud M., Alghamdi, Balgees, Aljomaiah, Abeer, Alswailem, Meshael, Al-Hindi, Hindi, Alzahrani, Ali S.
Publicado 2022

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

por Abbas, Hussein H. K., Alhamoudi, Kheloud M. H., Evans, Mark D., Jones, George D. D., Foster, Steven S.
Publicado 2018

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

por Alhamoudi, Kheloud M., Bhat, Javaid, Nashabat, Marwan, Alharbi, Masheal, Alyafee, Yusra, Asiri, Abdulaziz, Umair, Muhammad, Alfadhel, Majid
Publicado 2020

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

por Alhamoudi, Kheloud M., Barhoumi, Tlili, Al-Eidi, Hamad, Asiri, Abdulaziz, Nashabat, Marwan, Alaamery, Manal, Alharbi, Masheal, Alhaidan, Yazeid, Tabarki, Brahim, Umair, Muhammad, Alfadhel, Majid
Publicado 2021

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

por Asiri, Abdulaziz, Aloyouni, Essra, Umair, Muhammad, Alyafee, Yusra, Al Tuwaijri, Abeer, Alhamoudi, Kheloud M., Almuzzaini, Bader, Al Baz, Abeer, Alwadaani, Deemah, Nashabat, Marwan, Alfadhel, Majid
Publicado 2020

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

por Al Mutairi, Fuad, Alkhalaf, Randa, Alkhorayyef, Abdullah, Alroqi, Fayhan, Yusra, Alyafee, Umair, Muhammad, Nouf, Fetaini, Khan, Amjad, Meshael, Alharbi, Hamad, Aleidi, Monira, Alaujan, Asiri, Abdulaziz, Alhamoudi, Kheloud M., Alfadhel, Majid
Publicado 2020

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

por Umair, Muhammad, Farooq Khan, Muhammad, Aldrees, Mohammed, Nashabat, Marwan, Alhamoudi, Kheloud M., Bilal, Muhammad, Alyafee, Yusra, Al Tuwaijri, Abeer, Aldarwish, Manar, Al-Rumayyan, Ahmed, Alkhalaf, Hamad, Wadaan, Mohammad A. M., Alfadhel, Majid
Publicado 2021

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

por Umair, Muhammad, Ballow, Mariam, Asiri, Abdulaziz, Alyafee, Yusra, al Tuwaijri, Abeer, Alhamoudi, Kheloud M., Aloraini, Taghrid, Abdelhakim, Marwa, Althagafi, Azza Thamer, Kafkas, Senay, Alsubaie, Lamia, Alrifai, Muhammad Talal, Hoehndorf, Robert, Alfares, Ahmed, Alfadhel, Majid
Publicado 2020

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 Ph...

por Asiri, Abdulaziz, Alwadaani, Deemah, Umair, Muhammad, Alhamoudi, Kheloud M., Almuhanna, Mohammed H., Nasir, Abdul, Alrfaei, Bahauddeen M., Al Tuwaijri, Abeer, Barhoumi, Tlili, Alyafee, Yusra, Almuzzaini, Bader, Aldrees, Mohammed, Ballow, Mariam, Alayyar, Latifah, Al Abdulrahman, Abdulkareem, Alhaidan, Yazeid, Al Ghasham, Nahlah, Al-Ajaji, Sulaiman, Alsalamah, Mohammad, Al Suwairi, Wafa, Alfadhel, Majid
Publicado 2021