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Page 1
Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia.
Alghamdi M, Alhumsi TR, Altweijri I, Alkhamis WH, Barasain O, Cardona-Londoño KJ, Ramakrishnan R, Guzmán-Vega FJ, Arold ST, Ali G, Adly N, Ali H, Basudan A, Bakhrebah MA. Alghamdi M, et al. Among authors: adly n. Front Pediatr. 2021 Apr 16;9:582816. doi: 10.3389/fped.2021.582816. eCollection 2021. Front Pediatr. 2021. PMID: 33937142 Free PMC article.
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z, Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R, Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B, Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA, Monies DM, Alkuraya FS. Alazami AM, et al. Among authors: adly n. Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31. Cell Rep. 2015. PMID: 25558065 Free article.
Molecular autopsy by proxy in preconception counseling.
Ali Alghamdi M, Alrasheedi A, Alghamdi E, Adly N, AlAali WY, Alhashem A, Alshahrani A, Shamseldin H, Alkuraya FS, Alfadhel M. Ali Alghamdi M, et al. Among authors: adly n. Clin Genet. 2021 Dec;100(6):678-691. doi: 10.1111/cge.14049. Epub 2021 Aug 30. Clin Genet. 2021. PMID: 34406647 Free PMC article.
Mutation in MPDZ causes severe congenital hydrocephalus.
Al-Dosari MS, Al-Owain M, Tulbah M, Kurdi W, Adly N, Al-Hemidan A, Masoodi TA, Albash B, Alkuraya FS. Al-Dosari MS, et al. Among authors: adly n. J Med Genet. 2013 Jan;50(1):54-8. doi: 10.1136/jmedgenet-2012-101294. J Med Genet. 2013. PMID: 23240096
Mutations in LRPAP1 are associated with severe myopia in humans.
Aldahmesh MA, Khan AO, Alkuraya H, Adly N, Anazi S, Al-Saleh AA, Mohamed JY, Hijazi H, Prabakaran S, Tacke M, Al-Khrashi A, Hashem M, Reinheckel T, Assiri A, Alkuraya FS. Aldahmesh MA, et al. Among authors: adly n. Am J Hum Genet. 2013 Aug 8;93(2):313-20. doi: 10.1016/j.ajhg.2013.06.002. Epub 2013 Jul 3. Am J Hum Genet. 2013. PMID: 23830514 Free PMC article.
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, Alshammari MJ, Al-Sheddi T, Adly N, Al-Dosari MS, Megason SG, Al-Husain M, Al-Mohanna F, Alkuraya FS. Shaheen R, et al. Among authors: adly n. Am J Hum Genet. 2012 Aug 10;91(2):330-6. doi: 10.1016/j.ajhg.2012.05.025. Epub 2012 Jul 26. Am J Hum Genet. 2012. PMID: 22840364 Free PMC article.
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.
Alangari A, Alsultan A, Adly N, Massaad MJ, Kiani IS, Aljebreen A, Raddaoui E, Almomen AK, Al-Muhsen S, Geha RS, Alkuraya FS. Alangari A, et al. Among authors: adly n. J Allergy Clin Immunol. 2012 Aug;130(2):481-8.e2. doi: 10.1016/j.jaci.2012.05.043. Epub 2012 Jun 19. J Allergy Clin Immunol. 2012. PMID: 22721650 Free PMC article.
37 results