Ali BR - Search Results

1

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.

Ben-Salem S, Gleeson JG, Al-Shamsi AM, Islam B, Hertecant J, Ali BR, Al-Gazali L. Ben-Salem S, et al. Among authors: ali br. Metab Brain Dis. 2015 Jun;30(3):687-94. doi: 10.1007/s11011-014-9618-0. Epub 2014 Sep 17. Metab Brain Dis. 2015. PMID: 25227173 Free PMC article.

2

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F; International Joubert Syndrome Related Disorders Study Group; Valente EM, Woods CG, Gleeson JG. Cantagrel V, et al. Among authors: ali br. Am J Hum Genet. 2008 Aug;83(2):170-9. doi: 10.1016/j.ajhg.2008.06.023. Am J Hum Genet. 2008. PMID: 18674751 Free PMC article.

3

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux.

Hume AN, Buttgereit J, Al-Awadhi AM, Al-Suwaidi SS, John A, Bader M, Seabra MC, Al-Gazali L, Ali BR. Hume AN, et al. Among authors: ali br. Hum Mol Genet. 2009 Jan 15;18(2):267-77. doi: 10.1093/hmg/ddn354. Epub 2008 Oct 22. Hum Mol Genet. 2009. PMID: 18945719 Free PMC article.

4

Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?

Al-Gazali L, Shather B, Kaplan W, Algawi K, Ali BR. Al-Gazali L, et al. Among authors: ali br. Am J Med Genet A. 2009 Feb;149A(2):251-6. doi: 10.1002/ajmg.a.32626. Am J Med Genet A. 2009. PMID: 19161143

5

A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family.

Hertecant JL, Al-Gazali LI, Karuvantevida NS, Ali BR. Hertecant JL, et al. Among authors: ali br. Saudi Med J. 2009 Dec;30(12):1601-3. Saudi Med J. 2009. PMID: 19936428

6

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.

Ali BR, Akawi NA, Chedid F, Bakir M, Ur Rehman M, Rahmani A, Al-Gazali L. Ali BR, et al. BMC Med Genet. 2010 Feb 25;11:33. doi: 10.1186/1471-2350-11-33. BMC Med Genet. 2010. PMID: 20184732 Free PMC article.

7

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.

Ali BR, Xu H, Akawi NA, John A, Karuvantevida NS, Langer R, Al-Gazali L, Leitinger B. Ali BR, et al. Hum Mol Genet. 2010 Jun 1;19(11):2239-50. doi: 10.1093/hmg/ddq103. Epub 2010 Mar 10. Hum Mol Genet. 2010. PMID: 20223752 Free PMC article.

8

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

Al-Gazali L, Ali BR. Al-Gazali L, et al. Among authors: ali br. Hum Mutat. 2010 May;31(5):505-20. doi: 10.1002/humu.21232. Hum Mutat. 2010. PMID: 20437613 Review.

9

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG. Cantagrel V, et al. Among authors: ali br. Cell. 2010 Jul 23;142(2):203-17. doi: 10.1016/j.cell.2010.06.001. Epub 2010 Jul 15. Cell. 2010. PMID: 20637498 Free PMC article.

10

Prenatal diagnosis of thanatophoric dysplasia and obstetrical challenges.

Bekdache GN, Begum M, Al-Gazali L, Ali BR, Akawi NA, Mirghani H. Bekdache GN, et al. Among authors: ali br. J Obstet Gynaecol. 2010;30(6):628-30. doi: 10.3109/01443615.2010.492881. J Obstet Gynaecol. 2010. PMID: 20701518 Free article. No abstract available.

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