Format
Items per page
Sort by

Send to:

Choose Destination

Search results

Items: 1 to 20 of 181

1.

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

Salih MA, Seidahmed MZ, El Khashab HY, Hamad MH, Bosley TM, Burn S, Myers A, Landsverk ML, Crotwell PL, Bilguvar K, Mane S, Kruer MC.

Tremor Other Hyperkinet Mov (N Y). 2015 Jul 9;5:306. doi: 10.7916/D8D21WQ0. eCollection 2015.

2.

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z, Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R, Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B, Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA, Monies DM, Alkuraya FS.

Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.

3.

Agenesis of the corpus callosum associated with spinal open neural tube defect.

Elgamal EA, Elwatidy SM, Alhabib AF, Jamjoom ZB, Murshid WR, Hassan HH, Salih MA.

Saudi Med J. 2014 Dec;35 Suppl 1:S57-63.

4.

Classification, clinical features, and genetics of neural tube defects.

Salih MA, Murshid WR, Seidahmed MZ.

Saudi Med J. 2014 Dec;35 Suppl 1:S5-S14.

5.

Genetic, chromosomal, and syndromic causes of neural tube defects.

Seidahmed MZ, Abdelbasit OB, Shaheed MM, Alhussein KA, Miqdad AM, Samadi AS, Khalil MI, Al-Mardawi E, Salih MA.

Saudi Med J. 2014 Dec;35 Suppl 1:S49-56.

6.

Split cord malformation associated with spinal open neural tube defect.

Elgamal EA, Hassan HH, Elwatidy SM, Altwijri I, Alhabib AF, Jamjoom ZB, Murshid WR, Salih MA.

Saudi Med J. 2014 Dec;35 Suppl 1:S44-8.

7.

Sirenomelia and severe caudal regression syndrome.

Seidahmed MZ, Abdelbasit OB, Alhussein KA, Miqdad AM, Khalil MI, Salih MA.

Saudi Med J. 2014 Dec;35 Suppl 1:S36-43.

8.

Neural tube defects. Challenging, yet preventable.

Salih MA.

Saudi Med J. 2014 Dec;35 Suppl 1:S3-4. No abstract available.

9.

Epidemiology of neural tube defects.

Seidahmed MZ, Abdelbasit OB, Shaheed MM, Alhussein KA, Miqdad AM, Khalil MI, Al-Enazy NM, Salih MA.

Saudi Med J. 2014 Dec;35 Suppl 1:S29-35.

10.

Message from the guest editor.

Salih MA.

Saudi Med J. 2014 Dec;35 Suppl 1:S2. No abstract available.

11.

Epidemiology, prenatal management, and prevention of neural tube defects.

Salih MA, Murshid WR, Seidahmed MZ.

Saudi Med J. 2014 Dec;35 Suppl 1:S15-28.

12.

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.

Al-Qattan SM, Wakil SM, Anazi S, Alazami AM, Patel N, Shaheen R, Shamseldin HE, Hagos ST, AlDossari HM, Salih MA, El Khashab HY, Kentab AY, AlNasser MN, Bashiri FA, Kaya N, Hashem MO, Alkuraya FS.

Genet Med. 2014 Dec 11. doi: 10.1038/gim.2014.184. [Epub ahead of print]

PMID:
25503496
13.

Insights into the possible role of IFNG and IFNGR1 in Kala-azar and Post Kala-azar Dermal Leishmaniasis in Sudanese patients.

Salih MA, Fakiola M, Abdelraheem MH, Younis BM, Musa AM, ElHassan AM, Blackwell JM, Ibrahim ME, Mohamed HS.

BMC Infect Dis. 2014 Dec 3;14:662. doi: 10.1186/s12879-014-0662-5.

14.

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Manzini MC, Xiong L, Shaheen R, Tambunan DE, Di Costanzo S, Mitisalis V, Tischfield DJ, Cinquino A, Ghaziuddin M, Christian M, Jiang Q, Laurent S, Nanjiani ZA, Rasheed S, Hill RS, Lizarraga SB, Gleason D, Sabbagh D, Salih MA, Alkuraya FS, Walsh CA.

Cell Rep. 2014 Aug 7;8(3):647-55. doi: 10.1016/j.celrep.2014.06.039. Epub 2014 Jul 24.

15.

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC.

Hum Mol Genet. 2014 Nov 1;23(21):5781-92. doi: 10.1093/hmg/ddu296. Epub 2014 Jun 11.

PMID:
24925318
16.

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

Mohamed S, Osman A, Al Jurayyan NA, Al Nemri A, Salih MA.

BMC Res Notes. 2014 Mar 28;7:184. doi: 10.1186/1756-0500-7-184.

17.

SLC25A22 is a novel gene for migrating partial seizures in infancy.

Poduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, Elhosary PC, LaCoursiere CM, Martin E, Yuskaitis CJ, Hill RS, Atabay KD, Barry B, Partlow JN, Bashiri FA, Zeidan RM, Elmalik SA, Kabiraj MM, Kothare S, Stödberg T, McTague A, Kurian MA, Scheffer IE, Barkovich AJ, Palmieri F, Salih MA, Walsh CA.

Ann Neurol. 2013 Dec;74(6):873-82. doi: 10.1002/ana.23998.

18.

Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.

Khan AO, AlDrees A, Elmalik SA, Hassan HH, Michel M, Stevanin G, Azzedine H, Salih MA.

Br J Ophthalmol. 2014 Jul;98(7):889-93.

PMID:
24522175
19.

Bilateral congenital entropion with cutis laxa.

Al-Faky YH, Salih MA, Mubarak M, Al-Rikabi AC.

Pediatr Dermatol. 2014 May-Jun;31(3):e82-4. doi: 10.1111/pde.12255. Epub 2014 Feb 11.

PMID:
24517732
20.

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
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk