Zoekresultaten - Alhamoudi, Kheloud M.

Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant door Alhamoudi, Kheloud M., Alghamdi, Balgees, Aljomaiah, Abeer, Alswailem, Meshael, Al-Hindi, Hindi, Alzahrani, Ali S.

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MTH1 deficiency selectively increases non-cytotoxic oxidative DNA damage in lung cancer cells: more bad news than good? door Abbas, Hussein H. K., Alhamoudi, Kheloud M. H., Evans, Mark D., Jones, George D. D., Foster, Steven S.

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A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia door Alhamoudi, Kheloud M., Bhat, Javaid, Nashabat, Marwan, Alharbi, Masheal, Alyafee, Yusra, Asiri, Abdulaziz, Umair, Muhammad, Alfadhel, Majid

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A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy door Alhamoudi, Kheloud M., Barhoumi, Tlili, Al-Eidi, Hamad, Asiri, Abdulaziz, Nashabat, Marwan, Alaamery, Manal, Alharbi, Masheal, Alhaidan, Yazeid, Tabarki, Brahim, Umair, Muhammad, Alfadhel, Majid

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

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

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

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

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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... door 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

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