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Items: 30

1.

Phenotypic spectrum of ALPK3-related cardiomyopathy.

Al Senaidi K, Joshi N, Al-Nabhani M, Al-Kasbi G, Al Farqani A, Al-Thihli K, Al-Maawali A.

Am J Med Genet A. 2019 Jul;179(7):1235-1240. doi: 10.1002/ajmg.a.61176. Epub 2019 May 10.

PMID:
31074094
2.

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.

Mohammed M, Al-Hashmi N, Al-Rashdi S, Al-Sukaiti N, Al-Adawi K, Al-Riyami M, Al-Maawali A.

Eur J Med Genet. 2018 Nov 22. pii: S1769-7212(18)30598-6. doi: 10.1016/j.ejmg.2018.11.017. [Epub ahead of print]

PMID:
30472485
3.

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.

Clin Genet. 2018 Dec;94(6):495-501. doi: 10.1111/cge.13438. Epub 2018 Sep 12.

PMID:
30125339
4.

Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.

Zadjali F, Al-Yahyaee A, Al-Nabhani M, Al-Mubaihsi S, Gujjar A, Raniga S, Al-Maawali A.

Hum Mutat. 2018 Oct;39(10):1355-1359. doi: 10.1002/humu.23595. Epub 2018 Jul 30.

PMID:
30014610
5.

Impact of Multidisciplinary Standardization of Care for Gastroschisis: Treatment, Outcomes, and Cost.

Haddock C, Al Maawali AG, Ting J, Bedford J, Afshar K, Skarsgard ED.

J Pediatr Surg. 2018 May;53(5):892-897. doi: 10.1016/j.jpedsurg.2018.02.013. Epub 2018 Feb 7.

PMID:
29499843
6.

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.

Alrakaf L, Al-Owain MA, Busehail M, Alotaibi MA, Monies D, Aldhalaan HM, Alhashem A, Al-Hassnan ZN, Rahbeeni ZA, Murshedi FA, Ani NA, Al-Maawali A, Ibrahim NA, Abdulwahab FM, Alsagob M, Hashem MO, Ramadan W, Abouelhoda M, Meyer BF, Kaya N, Maddirevula S, Alkuraya FS.

Am J Med Genet A. 2018 Mar;176(3):715-721. doi: 10.1002/ajmg.a.38615. Epub 2018 Jan 31.

PMID:
29383837
7.

Modern Treatments and Stem Cell Therapies for Perianal Crohn's Fistulas.

Al-Maawali AK, Nguyen P, Phang PT.

Can J Gastroenterol Hepatol. 2016;2016:1651570. doi: 10.1155/2016/1651570. Epub 2016 Dec 7. Review.

8.

Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.

Al-Maawali A, Yoon G, Feigenbaum AS, Halliday WC, Clarke JT, Branson HM, Banwell BL, Chitayat D, Blaser SI.

Neuroradiology. 2016 Oct;58(10):1035-1042. Epub 2016 Aug 11.

PMID:
27516098
9.

The Pediatric Cerebellum in Inherited Neurodegenerative Disorders: A Pattern-recognition Approach.

Blaser SI, Steinlin M, Al-Maawali A, Yoon G.

Neuroimaging Clin N Am. 2016 Aug;26(3):373-416. doi: 10.1016/j.nic.2016.03.007. Review.

PMID:
27423800
10.

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, Stoler JM.

Am J Med Genet A. 2016 Feb;170A(2):435-440. doi: 10.1002/ajmg.a.37422. Epub 2015 Oct 13.

11.

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH.

Am J Hum Genet. 2015 May 7;96(5):709-19. doi: 10.1016/j.ajhg.2015.03.003. Epub 2015 Apr 9.

12.

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.

Eur J Hum Genet. 2015 Mar;23(3):310-6. doi: 10.1038/ejhg.2014.112. Epub 2014 Jun 25.

13.

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.

J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):851-6. doi: 10.1515/jpem-2013-0343.

PMID:
24854525
14.

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.

Am J Med Genet A. 2014 Mar;164A(3):796-800. doi: 10.1002/ajmg.a.36356. Epub 2013 Dec 20.

PMID:
24375972
15.

Prospective study of activities of daily living outcomes in children with cerebellar atrophy.

Al-Maawali A, Blaser S, Zhao XY, Yoon G.

Dev Med Child Neurol. 2014 May;56(5):460-7. doi: 10.1111/dmcn.12289. Epub 2013 Oct 1.

16.

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.

Pediatr Radiol. 2014 Feb;44(2):222-5. doi: 10.1007/s00247-013-2782-2. Epub 2013 Sep 15.

PMID:
24037084
17.

XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome.

Siriwardena K, Al-Maawali A, Guerin A, Blaser S, Chitayat D.

Am J Med Genet A. 2013 Jul;161A(7):1714-7. doi: 10.1002/ajmg.a.35945. Epub 2013 May 17.

PMID:
23686794
18.

Complex II deficiency--a case report and review of the literature.

Jain-Ghai S, Cameron JM, Al Maawali A, Blaser S, MacKay N, Robinson B, Raiman J.

Am J Med Genet A. 2013 Feb;161A(2):285-94. doi: 10.1002/ajmg.a.35714. Epub 2013 Jan 15. Review.

PMID:
23322652
19.

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.

Sultan Qaboos Univ Med J. 2012 Aug;12(3):295-9. Epub 2012 Jul 15.

20.

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

Al-Maawali A, Blaser S, Yoon G.

J Child Neurol. 2012 Sep;27(9):1121-32. doi: 10.1177/0883073812448680. Epub 2012 Jul 4.

21.

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.

J Child Neurol. 2013 Mar;28(3):392-5. doi: 10.1177/0883073812443591. Epub 2012 May 7.

PMID:
22566713
22.

Biomedical publications profile and trends in gulf cooperation council countries.

Al-Maawali A, Al Busadi A, Al-Adawi S.

Sultan Qaboos Univ Med J. 2012 Feb;12(1):41-7. Epub 2012 Feb 7.

23.

Complications of PORT-A-CATH® in patients with sickle cell disease.

Alkindi S, Matwani S, Al-Maawali A, Al-Maskari B, Pathare A.

J Infect Public Health. 2012 Mar;5(1):57-62. doi: 10.1016/j.jiph.2011.10.004. Epub 2011 Dec 6.

24.

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

Al-Maawali A, Walfisch A, Koren G.

Can Fam Physician. 2012 Jan;58(1):49-51.

25.

Teratogenicity of angiotensin converting enzyme inhibitors or receptor blockers.

Walfisch A, Al-maawali A, Moretti ME, Nickel C, Koren G.

J Obstet Gynaecol. 2011 Aug;31(6):465-72. doi: 10.3109/01443615.2011.579197. Review.

PMID:
21823839
26.

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.

J Clin Neuromuscul Dis. 2011 Mar;12(3):143-6. doi: 10.1097/CND.0b013e318209efc6.

PMID:
21321493
27.

HIV disease presenting as a unilateral parotid gland swelling.

Al-Maawali AA, Chacko AP, Javad H, Fathalla M, Shenoy A, Koul R.

Indian J Pediatr. 2008 Oct;75(10):1087-8. doi: 10.1007/s12098-008-0163-x. No abstract available.

PMID:
18818890
28.

Merosin-deficient congenital muscular dystrophy in an Omani boy.

Al-Futaisi A, Al-Maawali A, Abdwani R, Rao VT, Javad H, Koul R.

Neurosciences (Riyadh). 2008 Jul;13(3):305-7. Erratum in: Neurosciences (Riyadh). 2011 Jan;16(1):79. Almawali, Almundher [corrected to Al-Maawali, Almundher].

PMID:
21063346
29.

An infant with cytomegalovirus-induced subacute thyroiditis.

Al Maawali A, Al Yaarubi S, Al Futaisi A.

J Pediatr Endocrinol Metab. 2008 Feb;21(2):191-3. No abstract available.

PMID:
18422033
30.

Leucoencephalopathy with bitemporal lobe cysts in a child with developmental delay.

Al-Maawali A, Al-Futasi A, Abdwani R, Sankhla D.

Sultan Qaboos Univ Med J. 2007 Aug;7(2):161-3. No abstract available.

PMID:
21748100
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