Al-Maawali A - Search Results

1

Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy.

Al-Maawali A, Al-Murshedi F, Al-Futaisi A, Mansy A, Al-Habsi A, Girisha KM. Al-Maawali A, et al. Eur J Hum Genet. 2024 Feb;32(2):243-246. doi: 10.1038/s41431-023-01493-8. Epub 2023 Nov 20. Eur J Hum Genet. 2024. PMID: 37985816

2

Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.

Al-Maawali A, Marshall CR, Scherer SW, Dupuis L, Mendoza-Londono R, Stavropoulos DJ. Al-Maawali A, et al. Am J Med Genet A. 2014 Mar;164A(3):796-800. doi: 10.1002/ajmg.a.36356. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24375972

3

Taking angiotensin-converting enzyme inhibitors during pregnancy: is it safe?

Al-Maawali A, Walfisch A, Koren G. Al-Maawali A, et al. Can Fam Physician. 2012 Jan;58(1):49-51. Can Fam Physician. 2012. PMID: 22267620 Free PMC article.

4

HIV disease presenting as a unilateral parotid gland swelling.

Al-Maawali AA, Chacko AP, Javad H, Fathalla M, Shenoy A, Koul R. Al-Maawali AA, et al. Indian J Pediatr. 2008 Oct;75(10):1087-8. doi: 10.1007/s12098-008-0163-x. Indian J Pediatr. 2008. PMID: 18818890 No abstract available.

5

Teratogenicity of angiotensin converting enzyme inhibitors or receptor blockers.

Walfisch A, Al-maawali A, Moretti ME, Nickel C, Koren G. Walfisch A, et al. J Obstet Gynaecol. 2011 Aug;31(6):465-72. doi: 10.3109/01443615.2011.579197. J Obstet Gynaecol. 2011. PMID: 21823839 Free article. Review.

6

Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family.

Al-Maawali A, Rolfs A, Klingenhaeger M, Yoon G. Al-Maawali A, et al. J Clin Neuromuscul Dis. 2011 Mar;12(3):143-6. doi: 10.1097/CND.0b013e318209efc6. J Clin Neuromuscul Dis. 2011. PMID: 21321493

7

Merosin-deficient congenital muscular dystrophy in an Omani boy.

Al-Futaisi A, Al-Maawali A, Abdwani R, Rao VT, Javad H, Koul R. Al-Futaisi A, et al. Neurosciences (Riyadh). 2008 Jul;13(3):305-7. Neurosciences (Riyadh). 2008. PMID: 21063346

8

Spectrum of paediatric lysosomal storage disorders in oman.

Al-Maawali AA, Joshi SN, Koul RL, Al-Maawali AA, Al-Sedari HS, Al-Amri BM, Al-Futaisi AM. Al-Maawali AA, et al. Sultan Qaboos Univ Med J. 2012 Aug;12(3):295-9. doi: 10.12816/0003142. Epub 2012 Jul 15. Sultan Qaboos Univ Med J. 2012. PMID: 22912921 Free PMC article.

9

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.

Al-Maawali A, Dupuis L, Blaser S, Heon E, Tarnopolsky M, Al-Murshedi F, Marshall CR, Paton T, Scherer SW; FORGE Canada Consortium; Roelofsen J, van Kuilenburg AB, Mendoza-Londono R. Al-Maawali A, et al. Eur J Hum Genet. 2015 Mar;23(3):310-6. doi: 10.1038/ejhg.2014.112. Epub 2014 Jun 25. Eur J Hum Genet. 2015. PMID: 24961627 Free PMC article.

10

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.

Al-Nabhani M, Al-Rashdi S, Al-Murshedi F, Al-Kindi A, Al-Thihli K, Al-Saegh A, Al-Futaisi A, Al-Mamari W, Zadjali F, Al-Maawali A. Al-Nabhani M, et al. Clin Genet. 2018 Dec;94(6):495-501. doi: 10.1111/cge.13438. Epub 2018 Sep 12. Clin Genet. 2018. PMID: 30125339

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