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Mitochondrial "dysmorphology" in variant classification.
Shamseldin HE, Alhashem A, Tabarki B, Abdulwahab F, Hashem M, Sougrat R, Alkuraya FS. Shamseldin HE, et al. Among authors: tabarki b. Hum Genet. 2022 Jan;141(1):55-64. doi: 10.1007/s00439-021-02378-w. Epub 2021 Nov 8. Hum Genet. 2022. PMID: 34750646
The fragile site WWOX gene and the developing brain.
Tabarki B, Al Mutairi F, Al Hashem A. Tabarki B, et al. 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.
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. Among authors: tabarki b. JIMD Rep. 2016;27:107-12. doi: 10.1007/8904_2015_504. Epub 2015 Oct 10. JIMD Rep. 2016. PMID: 26453364 Free PMC article.
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
Shamseldin H, Alazami AM, Manning M, Hashem A, Caluseiu O, Tabarki B, Esplin E, Schelley S, Innes AM, Parboosingh JS, Lamont R; Care4Rare Canada Consortium; Majewski J, Bernier FP, Alkuraya FS. Shamseldin H, et al. Among authors: tabarki b. Am J Hum Genet. 2015 Dec 3;97(6):862-8. doi: 10.1016/j.ajhg.2015.10.012. Epub 2015 Nov 19. Am J Hum Genet. 2015. PMID: 26608784 Free PMC article.
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE. Sanders AA, et al. Among authors: tabarki b. Genome Biol. 2015 Dec 29;16:293. doi: 10.1186/s13059-015-0858-z. Genome Biol. 2015. PMID: 26714646 Free PMC article.
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: tabarki b. Genome Biol. 2016 Nov 28;17(1):242. doi: 10.1186/s13059-016-1099-5. Genome Biol. 2016. PMID: 27894351 Free PMC article.
126 results