Al-Maawali A - Search Results

1

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.

Al-Kasbi G, Al-Murshedi F, Al-Kindi A, Al-Hashimi N, Al-Thihli K, Al-Saegh A, Al-Futaisi A, Al-Mamari W, Al-Asmi A, Bruwer Z, Al-Kharusi K, Al-Rashdi S, Zadjali F, Al-Yahyaee S, Al-Maawali A. Al-Kasbi G, et al. Sci Rep. 2022 Nov 7;12(1):18862. doi: 10.1038/s41598-022-22036-z. Sci Rep. 2022. PMID: 36344539 Free PMC article.

2

Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).

Al-Maawali AA, Miller E, Schulze A, Yoon G, Blaser SI. Al-Maawali AA, et al. Pediatr Radiol. 2014 Feb;44(2):222-5. doi: 10.1007/s00247-013-2782-2. Epub 2013 Sep 15. Pediatr Radiol. 2014. PMID: 24037084

3

A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder.

Diaz-Thomas A, Cannon J, Iyer P, Al-Maawali A, Fazalullah M, Diamond F, Mueller OT, Root AW, Alyaarubi S. Diaz-Thomas A, et al. J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):851-6. doi: 10.1515/jpem-2013-0343. J Pediatr Endocrinol Metab. 2014. PMID: 24854525

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

Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients.

Al-Maawali A, Blaser S, Yoon G. Al-Maawali A, et al. J Child Neurol. 2012 Sep;27(9):1121-32. doi: 10.1177/0883073812448680. Epub 2012 Jul 4. J Child Neurol. 2012. PMID: 22764178 Free PMC article.

6

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.

7

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.

8

Angelman syndrome due to a termination codon mutation of the UBE3A gene.

Al-Maawali A, Machado J, Fang P, Dupuis L, Faghfoury H, Mendoza-Londono R. Al-Maawali A, et al. J Child Neurol. 2013 Mar;28(3):392-5. doi: 10.1177/0883073812443591. Epub 2012 May 7. J Child Neurol. 2013. PMID: 22566713

9

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

10

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.

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