Tulbah S - Search Results

1

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

Al-Hassnan ZN, Al-Dosary M, Alfadhel M, Faqeih EA, Alsagob M, Kenana R, Almass R, Al-Harazi OS, Al-Hindi H, Malibari OI, Almutari FB, Tulbah S, Alhadeq F, Al-Sheddi T, Alamro R, AlAsmari A, Almuntashri M, Alshaalan H, Al-Mohanna FA, Colak D, Kaya N. Al-Hassnan ZN, et al. Among authors: tulbah s. J Med Genet. 2015 Mar;52(3):186-94. doi: 10.1136/jmedgenet-2014-102592. Epub 2014 Dec 24. J Med Genet. 2015. PMID: 25539947

2

Recessively inherited severe aortic aneurysm caused by mutated EFEMP2.

Al-Hassnan ZN, Almesned AR, Tulbah S, Hakami A, Al-Omrani A, Al Sehly A, Mohammed S, Majid S, Meyer B, Al-Fayyadh M. Al-Hassnan ZN, et al. Among authors: tulbah s. Am J Cardiol. 2012 Jun 1;109(11):1677-80. doi: 10.1016/j.amjcard.2012.01.394. Epub 2012 Mar 20. Am J Cardiol. 2012. PMID: 22440127

3

The phenotype of a CASQ2 mutation in a Saudi family with catecholaminergic polymorphic ventricular tachycardia.

Al-Hassnan ZN, Tulbah S, Al-Manea W, Al-Fayyadh M. Al-Hassnan ZN, et al. Among authors: tulbah s. Pacing Clin Electrophysiol. 2013 May;36(5):e140-2. doi: 10.1111/j.1540-8159.2012.03434.x. Epub 2012 May 31. Pacing Clin Electrophysiol. 2013. PMID: 22650415

4

Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.

Shinwari ZM, Al-Hazzani A, Dzimiri N, Tulbah S, Mallawi Y, Al-Fayyadh M, Al-Hassnan ZN. Shinwari ZM, et al. Among authors: tulbah s. Clin Genet. 2013 Apr;83(4):370-4. doi: 10.1111/j.1399-0004.2012.01914.x. Epub 2012 Jul 10. Clin Genet. 2013. PMID: 22708720

5

Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.

Kaya N, Colak D, Al-Bakheet A, Al-Younes B, Tulbah S, Daghestani M, Al-Mutairi F, Al-Amoudi M, Al-Odaib A, Al-Aqeel AI. Kaya N, et al. Among authors: tulbah s. Gene. 2013 Jan 25;513(2):297-300. doi: 10.1016/j.gene.2012.09.097. Epub 2012 Oct 9. Gene. 2013. PMID: 23063737

6

A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.

Al-Hassnan ZN, Shinwari ZM, Wakil SM, Tulbah S, Mohammed S, Rahbeeni Z, Alghamdi M, Rababh M, Colak D, Kaya N, Al-Fayyadh M, Alburaiki J. Al-Hassnan ZN, et al. Among authors: tulbah s. BMC Med Genet. 2016 Jan 14;17:3. doi: 10.1186/s12881-016-0267-5. BMC Med Genet. 2016. PMID: 26768247 Free PMC article.

7

Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.

Al-Hassnan ZN, Al-Fayyadh M, Al-Ghamdi B, Shafquat A, Mallawi Y, Al-Hadeq F, Tulbah S, Shinwari ZMA, Almesned A, Alakhfash A, Al Fadly F, Hersi AS, Alhayani A, Al-Hashem A, Arafah D, Dzimiri N, Meyer B, Rababh M, Al-Manea W. Al-Hassnan ZN, et al. Among authors: tulbah s. Heart Rhythm. 2017 Aug;14(8):1191-1199. doi: 10.1016/j.hrthm.2017.04.028. Epub 2017 Apr 22. Heart Rhythm. 2017. PMID: 28438721

8

The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.

Al-Hassnan ZN, Khalifa OA, Bubshait DK, Tulbah S, Alkorashy M, Alzaidan H, Alowain M, Rahbeeni Z, Al-Sayed M. Al-Hassnan ZN, et al. Among authors: tulbah s. Mol Genet Metab Rep. 2018 Feb 7;15:50-54. doi: 10.1016/j.ymgmr.2018.02.001. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 30023291 Free PMC article.

9

Phenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience.

Alrashed NA, Al-Manea WM, Tulbah SA, Al-Hassnan ZN. Alrashed NA, et al. Among authors: tulbah sa. Int J Pediatr Adolesc Med. 2019 Dec;6(4):158-164. doi: 10.1016/j.ijpam.2019.06.005. Epub 2019 Jun 14. Int J Pediatr Adolesc Med. 2019. PMID: 31890843 Free PMC article.

10

Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.

Al-Hassnan ZN, Almesned A, Tulbah S, Alakhfash A, Alhadeq F, Alruwaili N, Alkorashy M, Alhashem A, Alrashdan A, Faqeih E, Alkhalifi SM, Al Humaidi Z, Sogaty S, Azhari N, Bakhaider AM, Al Asmari A, Awaji A, Albash B, Alhabdan M, Alghamdi MA, Alshuaibi W, Al-Hassnan RZ, Alshenqiti A, Alqahtani A, Shinwari Z, Rbabeh M, Takroni S, Alomrani A, Albert Brotons DC, AlQwaee AM, Almanea W, Alfadley FA, Alfayyadh M, Alwadai A. Al-Hassnan ZN, et al. Among authors: tulbah s. Circ Genom Precis Med. 2020 Oct;13(5):504-514. doi: 10.1161/CIRCGEN.120.002969. Epub 2020 Sep 1. Circ Genom Precis Med. 2020. PMID: 32870709

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