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Items: 1 to 20 of 57

1.

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.

Seidahmed MZ, Salih MA, Abdulbasit OB, Samadi A, Al Hussien K, Miqdad AM, Biary MS, Alazami AM, Alorainy IA, Kabiraj MM, Shaheen R, Alkuraya FS.

BMC Neurol. 2016 Jul 15;16:105. doi: 10.1186/s12883-016-0633-0.

2.

Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.

Seidahmed MZ, Salih MA, Abdelbasit OB, Alassiri AH, Hussein KA, Miqdad A, Samadi A, Rasheed AA, Alorainy IA, Shaheen R, Alkuraya FS.

Am J Med Genet A. 2016 Aug;170(8):2219-21. doi: 10.1002/ajmg.a.37768. No abstract available.

PMID:
27242277
3.

The association between petrous apex cephalocele and empty sella.

Jamjoom DZ, Alorainy IA.

Surg Radiol Anat. 2015 Dec;37(10):1179-82. doi: 10.1007/s00276-015-1489-5.

PMID:
25963119
4.

Ocular motility abnormalities in orbitofacial neurofibromatosis type 1.

Oystreck DT, Alorainy IA, Morales J, Chaudhry IA, Elkhamary SM, Bosley TM.

J AAPOS. 2014 Aug;18(4):338-43. doi: 10.1016/j.jaapos.2014.02.018.

PMID:
25173895
5.

HOXA1 Mutations are Not Commonly Associated with Non-Syndromic Deafness.

Abu-Amero KK, Hagr Aa, Almomani MO, Azad TA, Alorainy IA, Oystreck DT, Bosley TM.

Can J Neurol Sci. 2014 Jul;41(4):448-51.

PMID:
24878468
6.

Neurologic injury in isolated sulfite oxidase deficiency.

Bosley TM, Alorainy IA, Oystreck DT, Hellani AM, Seidahmed MZ, Osman Mel F, Sabry MA, Rashed MS, Al-Yamani EA, Abu-Amero KK, Salih MA.

Can J Neurol Sci. 2014 Jan;41(1):42-8.

PMID:
24384336
7.

Partial duplication of chromosome 19 associated with syndromic duane retraction syndrome.

Abu-Amero KK, Kondkar AA, Al Otaibi A, Alorainy IA, Khan AO, Hellani AM, Oystreck DT, Bosley TM.

Ophthalmic Genet. 2015 Mar;36(1):14-20. doi: 10.3109/13816810.2013.827218.

PMID:
23952617
8.

Xq26.3 microdeletion in a male with Wildervanck Syndrome.

Abu-Amero KK, Kondkar AA, Alorainy IA, Khan AO, Al-Enazy LA, Oystreck DT, Bosley TM.

Ophthalmic Genet. 2014 Mar;35(1):18-24. doi: 10.3109/13816810.2013.766218.

PMID:
23373430
9.

Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency.

Salih MA, Bosley TM, Alorainy IA, Sabry MA, Rashed MS, Al-Yamani EA, El-Akoum S, Mohamed SH, Abu-Amero KK, Hellani AM.

Can J Neurol Sci. 2013 Jan;40(1):109-12. No abstract available.

PMID:
23250141
10.

A novel syndrome of lethal familial hyperekplexia associated with brain malformation.

Seidahmed MZ, Salih MA, Abdulbasit OB, Shaheed M, Al Hussein K, Miqdad AM, Al Rasheed AK, Alazami AM, Alorainy IA, Alkuraya FS.

BMC Neurol. 2012 Oct 27;12:125. doi: 10.1186/1471-2377-12-125.

11.

Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.

Abu-Amero KK, Kondkar AA, Salih MA, Alorainy IA, Khan AO, Oystreck DT, Bosley TM.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):90-6. doi: 10.3109/13816810.2012.718850.

PMID:
22950449
12.

Visual loss in orbitofacial neurofibromatosis type 1.

Oystreck DT, Morales J, Chaudhry I, Alorainy IA, Elkhamary SM, Pasha TM, Bosley TM.

Ophthalmology. 2012 Oct;119(10):2168-73. doi: 10.1016/j.ophtha.2012.04.032.

PMID:
22709421
13.

The neurology of carbonic anhydrase type II deficiency syndrome.

Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK.

Brain. 2011 Dec;134(Pt 12):3502-15. doi: 10.1093/brain/awr302.

PMID:
22120147
14.

Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.

Abu-Amero KK, Faletra F, Gasparini P, Parentin F, Pensiero S, Alorainy IA, Hellani AM, Catalano D, Bosley TM.

Ophthalmic Genet. 2011 Nov;32(4):212-6. doi: 10.3109/13816810.2011.574186.

PMID:
21510772
15.

A practical discussion to avoid common pitfalls when constructing multiple choice questions items.

Al-Faris EA, Alorainy IA, Abdel-Hameed AA, Al-Rukban MO.

J Family Community Med. 2010 May;17(2):96-102. doi: 10.4103/1319-1683.71992.

16.

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.

Salih MA, Abu-Amero KK, Alrasheed S, Alorainy IA, Liu L, McGrath JA, Van Maldergem L, Al-Faky YH, AlSuhaibani AH, Oystreck DT, Bosley TM.

BMC Med Genet. 2011 Feb 24;12:31. doi: 10.1186/1471-2350-12-31.

17.

Pictorial Essay: Infants of diabetic mothers.

Alorainy IA, Barlas NB, Al-Boukai AA.

Indian J Radiol Imaging. 2010 Aug;20(3):174-81. doi: 10.4103/0971-3026.69349.

18.

Optic disk and white matter abnormalities in a patient with a de novo 18p partial monosomy.

Abu-Amero KK, Hellani A, Salih MA, Alorainy IA, Zidan G, Kern KC, Sicotte NL, Bosley TM.

Ophthalmic Genet. 2010 Sep;31(3):147-54. doi: 10.3109/13816810.2010.492817.

PMID:
20565246
19.

Ophthalmologic abnormalities in a de novo terminal 6q deletion.

Abu-Amero KK, Hellani A, Salih MA, Al Hussain A, al Obailan M, Zidan G, Alorainy IA, Bosley TM.

Ophthalmic Genet. 2010 Mar;31(1):1-11. doi: 10.3109/13816810903312535.

PMID:
20141352
20.

Ophthalmic features of Joubert syndrome.

Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA.

Ophthalmology. 2008 Dec;115(12):2286-9. doi: 10.1016/j.ophtha.2008.08.005.

PMID:
19041481
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