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Year Number of Results
1993 1
2009 1
2010 2
2011 1
2012 3
2013 3
2014 3
2015 8
2016 6
2017 5
2018 9
2019 8
2020 2
2021 3
2023 2
2024 4
2025 4

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51 results

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Page 1
Characterizing the morbid genome of ciliopathies.
Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA; Ciliopathy WorkingGroup; Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS. Shaheen R, et al. Among authors: al hashem a. Genome Biol. 2016 Nov 28;17(1):242. doi: 10.1186/s13059-016-1099-5. Genome Biol. 2016. PMID: 27894351 Free PMC article.
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS. Maddirevula S, et al. Genet Med. 2019 Mar;21(3):736-742. doi: 10.1038/s41436-018-0138-x. Epub 2018 Sep 21. Genet Med. 2019. PMID: 30237576 Free PMC article.
Biotin-Thiamine-Responsive Basal Ganglia Disease.
Tabarki B, Al-Hashem A, Ortigoza-Escobar JD, Alsharhan H, Alfadhel M. Tabarki B, et al. Among authors: al hashem a. 2013 Nov 21 [updated 2025 Jan 9]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2013 Nov 21 [updated 2025 Jan 9]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 24260777 Free Books & Documents. Review.
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.
Rawlins LE, Maroofian R, Cannon SJ, Daana M, Zamani M, Ghani S, Leslie JS, Ubeyratna N, Khan N, Khan H, Scardamaglia A, Cloarec R, Khan SA, Umair M, Sadeghian S, Galehdari H, Al-Maawali A, Al-Kindi A, Azizimalamiri R, Shariati G, Ahmad F, Al-Futaisi A, Rodriguez Cruz PM, Salazar-Villacorta A, Ndiaye M, Diop AG, Sedaghat A, Saberi A, Hamid M, Zaki MS, Vona B, Owrang D, Alhashem AM, Obeid M, Khan A, Beydoun A, Najjar M, Tajsharghi H, Zifarelli G, Bauer P, Hakami WS, Al Hashem AM, Boustany RN, Burglen L, Alavi S, Gunning AC, Owens M, Karimiani EG, Gleeson JG, Milh M, Salah S, Khan J, Haucke V, Wright CF, McGavin L, Elpeleg O, Shabbir MI, Houlden H, Ebner M, Baple EL, Crosby AH. Rawlins LE, et al. Among authors: al hashem am. Genet Med. 2025 Feb;27(2):101278. doi: 10.1016/j.gim.2024.101278. Epub 2024 Sep 21. Genet Med. 2025. PMID: 39315527 Free article.
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.
Neeman B, Sudhakar S, Biswas A, Rosenblum J, Sidpra J, D'Arco F, Löbel U, Gómez-Chiari M, Serrano M, Bolasell M, Reddy K, Ben-Sira L, Zakzouk R, Al-Hashem A, Mirsky DM, Patel R, Radhakrishnan R, Shekdar K, Whitehead MT, Mankad K. Neeman B, et al. Among authors: al hashem a. AJNR Am J Neuroradiol. 2024 Oct 3;45(10):1570-1577. doi: 10.3174/ajnr.A8364. AJNR Am J Neuroradiol. 2024. PMID: 39147584 Free PMC article.
Further Delineation of the ALG9-CDG Phenotype.
AlSubhi S, AlHashem A, AlAzami A, Tlili K, AlShahwan S, Lefeber D, Alkuraya FS, Tabarki B. AlSubhi S, et al. JIMD Rep. 2016;27:107-12. doi: 10.1007/8904_2015_504. Epub 2015 Oct 10. JIMD Rep. 2016. PMID: 26453364 Free PMC article.
Embryopathy Associated With a Vitamin Therapy.
Tabarki B, AlHashem A, Tlili-Graiess K. Tabarki B, et al. Pediatr Neurol. 2018 Dec;89:73-74. doi: 10.1016/j.pediatrneurol.2018.07.012. Epub 2018 Aug 4. Pediatr Neurol. 2018. PMID: 30442439 No abstract available.
The prevalence and phenotypic range associated with biallelic PKDCC variants.
Pagnamenta AT, Belles RS, Salbert BA, Wentzensen IM, Guillen Sacoto MJ, Santos FJR, Caffo A, Ferla M, Banos-Pinero B, Pawliczak K, Makvand M, Najmabadi H; Genomics England Research Consortium; Maroofian R, Lester T, Yanez-Felix AL, Villarroel-Cortes CE, Xia F, Al Fayez K, Al Hashem A, Shears D, Irving M, Offiah AC, Kariminejad A, Taylor JC. Pagnamenta AT, et al. Among authors: al hashem a. Clin Genet. 2023 Jul;104(1):121-126. doi: 10.1111/cge.14324. Epub 2023 Mar 10. Clin Genet. 2023. PMID: 36896672 Free PMC article.
The fragile site WWOX gene and the developing brain.
Tabarki B, Al Mutairi F, Al Hashem A. Tabarki B, et al. Among authors: al hashem a. Exp Biol Med (Maywood). 2015 Mar;240(3):400-2. doi: 10.1177/1535370214561952. Epub 2014 Nov 21. Exp Biol Med (Maywood). 2015. PMID: 25416187 Free PMC article. Review.
51 results