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Table representation of search results timeline featuring number of search results per year.

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 3
2021 3
2023 2
2024 0

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45 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, Alfadhel M. Tabarki B, et al. Among authors: al hashem a. 2013 Nov 21 [updated 2020 Aug 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2013 Nov 21 [updated 2020 Aug 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24260777 Free Books & Documents. Review.
Health Education in Saudi Arabia: Historical overview.
Al-Hashem A. Al-Hashem A. Sultan Qaboos Univ Med J. 2016 Aug;16(3):e286-92. doi: 10.18295/squmj.2016.16.03.004. Epub 2016 Aug 19. Sultan Qaboos Univ Med J. 2016. PMID: 27606106 Free PMC article. Review.
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.
Almannai M, Felemban R, Saleh MA, Faqeih EA, Alasmari A, AlHashem A, Mohamed S, Sunbul R, Al-Murshedi F, AlThihli K, Eyaid W, Ali R, Ben-Omran T, Blau N, El-Hattab AW, Alfadhel M. Almannai M, et al. Pediatr Neurol. 2019 Jul;96:40-47. doi: 10.1016/j.pediatrneurol.2019.02.008. Epub 2019 Feb 18. Pediatr Neurol. 2019. PMID: 30926181 Free article. Review.
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.
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.
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.
In search of triallelism in Bardet-Biedl syndrome.
Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, Sirelkhatim MO, Al-Hassnan Z, Alkuraya B, Mohamed JY, Al-Salem A, Alrashed M, Faqeih E, Softah A, Al-Hashem A, Wali S, Rahbeeni Z, Alsayed M, Khan AO, Al-Gazali L, Taschner PE, Al-Hazzaa S, Alkuraya FS. Abu-Safieh L, et al. Among authors: al hashem a. Eur J Hum Genet. 2012 Apr;20(4):420-7. doi: 10.1038/ejhg.2011.205. Epub 2012 Feb 22. Eur J Hum Genet. 2012. PMID: 22353939 Free PMC article.
The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M, Al Qahtani XS, Almakdob S, Altwaijri W, Ba-Armah DM, Hundallah K, Al Hashem A, Al Tala S, Maddirevula S, Alkuraya FS, Tabarki B, Alfadhel M. Nashabat M, et al. Among authors: al hashem a. Seizure. 2019 Jul;69:154-172. doi: 10.1016/j.seizure.2019.04.018. Epub 2019 Apr 27. Seizure. 2019. PMID: 31054490 Free article.
45 results