Al-Kindi MN - Search Results

1

LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss.

Al-Amri AH, Al Saegh A, Al-Mamari W, El-Asrag ME, Al-Kindi MN, Al Khabouri M, Al Wardy N, Al Lamki K, Gabr A, Idris A, Inglehearn CF, Clapcote SJ, Ali M. Al-Amri AH, et al. Among authors: al kindi mn. Eur J Med Genet. 2019 Dec;62(12):103592. doi: 10.1016/j.ejmg.2018.11.026. Epub 2018 Nov 23. Eur J Med Genet. 2019. PMID: 30476627

2

A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy.

Al-Wardy NM, Al-Kindi MN, Al-Khabouri MJ, Tamimi Y, Van Camp G. Al-Wardy NM, et al. Among authors: al kindi mn. Saudi Med J. 2016 Oct;37(10):1068-75. doi: 10.15537/smj.2016.10.14967. Saudi Med J. 2016. PMID: 27652356 Free PMC article.

3

In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss.

Al-Kindi MN, Al-Khabouri MJ, Al-Lamki KA, Palombo F, Pippucci T, Romeo G, Al-Wardy NM. Al-Kindi MN, et al. J Genet Eng Biotechnol. 2020 Mar 2;18(1):8. doi: 10.1186/s43141-020-0021-4. J Genet Eng Biotechnol. 2020. PMID: 32115674 Free PMC article.

4

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.

Palombo F, Graziano C, Al Wardy N, Nouri N, Marconi C, Magini P, Severi G, La Morgia C, Cantalupo G, Cordelli DM, Gangarossa S, Al Kindi MN, Al Khabouri M, Salehi M, Giorgio E, Brusco A, Pisani F, Romeo G, Carelli V, Pippucci T, Seri M. Palombo F, et al. Among authors: al kindi mn. Hum Genet. 2020 Nov;139(11):1429-1441. doi: 10.1007/s00439-020-02187-7. Epub 2020 Jun 2. Hum Genet. 2020. PMID: 32488467 Free article.

5

Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation.

Al-Futaisi AM, Al-Kindi MN, Al-Mawali AM, Koul RL, Al-Adawi S, Al-Yahyaee SA. Al-Futaisi AM, et al. Among authors: al kindi mn. Pediatr Neurol. 2012 Feb;46(2):89-93. doi: 10.1016/j.pediatrneurol.2011.11.008. Pediatr Neurol. 2012. PMID: 22264702

6

Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.

Al-Naamani A, Al-Waily A, Al-Kindi M, Al-Awadi M, Al-Yahyaee SA. Al-Naamani A, et al. Med Princ Pract. 2013;22(5):438-43. doi: 10.1159/000349914. Epub 2013 May 15. Med Princ Pract. 2013. PMID: 23689228 Free PMC article.

7

Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family.

Al-Yahyaee SA, Al-Kindi MN, Habbal O, Kumar DS. Al-Yahyaee SA, et al. Am J Med Genet A. 2003 Aug 15;121A(1):9-14. doi: 10.1002/ajmg.a.20256. Am J Med Genet A. 2003. PMID: 12900894

8

Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation.

Al-Yahyaee SA, Al-Kindi M, Jonghe PD, Al-Asmi A, Al-Futaisi A, Vriendt ED, Deconinck T, Chand P. Al-Yahyaee SA, et al. J Child Neurol. 2013 Nov;28(11):1467-1473. doi: 10.1177/0883073812463610. Epub 2012 Nov 8. J Child Neurol. 2013. PMID: 23143715

9

Disclosing the origin and diversity of Omani cattle.

Mahgoub O, Babiker HA, Kadim IT, Al-Kindi M, Hassan S, Al-Marzooqi W, Eltahir YE, Al-Abri MA, Al-Khayat A, Al-Sinani KR, Hilal Al-Khanjari H, Costa V, Chen S, Beja-Pereira A. Mahgoub O, et al. Anim Genet. 2013 Jun;44(3):336-9. doi: 10.1111/j.1365-2052.2012.02399.x. Epub 2012 Sep 10. Anim Genet. 2013. PMID: 22957920

10

The p53 Mutation/Deletion Profile in a Small Cohort of the Omani Population with Diffuse Large B-Cell Lymphoma.

Tamimi Y, Al-Harthy S, Al-Haddabi I, Al-Kindi M, Babiker H, Al-Moundhri M, Burney I. Tamimi Y, et al. Sultan Qaboos Univ Med J. 2014 Feb;14(1):e50-8. doi: 10.12816/0003336. Epub 2014 Jan 27. Sultan Qaboos Univ Med J. 2014. PMID: 24516754 Free PMC article.

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