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1.

Error occurred: cannot get document summary

PMID:
24250758

2.

Four decades of the Sudanese Journal of Paediatrics and milstones.

Salih MAM, Swar MO.

Sudan J Paediatr. 2017;17(1):5-9. No abstract available.

3.

A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder.

Shamseldin HE, Alasmari A, Salih MA, Samman MM, Mian SA, Alshidi T, Ibrahim N, Hashem M, Faqeih E, Al-Mohanna F, Alkuraya FS.

Brain. 2017 Nov 1;140(11):2806-2813. doi: 10.1093/brain/awx237.

PMID:
29053821
4.

Expanding the genetic heterogeneity of intellectual disability.

Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS.

Hum Genet. 2017 Nov;136(11-12):1419-1429. doi: 10.1007/s00439-017-1843-2. Epub 2017 Sep 22.

PMID:
28940097
5.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah Z, Moghrabi N, Meyer BF, Alkuraya FS.

Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.

6.

Management of convulsive status epilepticus in children: an adapted clinical practice guideline for pediatricians in Saudi Arabia.

Bashiri FA, Hamad MH, Amer YS, Abouelkheir MM, Mohamed S, Kentab AY, Salih MA, Al Nasser MN, Al-Eyadhy AA, Al Othman MA, Al-Ahmadi T, Iqbal SM, Somily AM, Wahabi HA, Hundallah KJ, Alwadei AH, Albaradie RS, Al-Twaijri WA, Jan MM, Al-Otaibi F, Alnemri AM, Al-Ansary LA.

Neurosciences (Riyadh). 2017 Apr;22(2):146-155. doi: 10.17712/nsj.2017.2.20170093. No abstract available.

7.

Expression profiling of Sudanese visceral leishmaniasis patients pre- and post-treatment with sodium stibogluconate.

Salih MAM, Fakiola M, Lyons PA, Younis BM, Musa AM, Elhassan AM, Anderson D, Syn G, Ibrahim ME, Blackwell JM, Mohamed HS.

Parasite Immunol. 2017 Jun;39(6). doi: 10.1111/pim.12431. Epub 2017 May 4.

PMID:
28370072
8.

Gum Arabic as novel anti-oxidant agent in sickle cell anemia, phase II trial.

Kaddam L, Fadl-Elmula I, Eisawi OA, Abdelrazig HA, Salih MA, Lang F, Saeed AM.

BMC Hematol. 2017 Mar 16;17:4. doi: 10.1186/s12878-017-0075-y. eCollection 2017.

9.

NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME.

Kozak I, Oystreck DT, Abu-Amero KK, Nowilaty SR, Alkhalidi H, Elkhamary SM, Mohamed S, Hamad MH, Salih MA, Blakely EL, Taylor RW, Bosley TM.

Retin Cases Brief Rep. 2016 Dec 19. doi: 10.1097/ICB.0000000000000503. [Epub ahead of print]

PMID:
28296806
10.

GLI3-related polydactyly: a review.

Al-Qattan MM, Shamseldin HE, Salih MA, Alkuraya FS.

Clin Genet. 2017 Nov;92(5):457-466. doi: 10.1111/cge.12952. Epub 2017 Feb 22. Review.

PMID:
28224613
11.

Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.

Ramadan W, Patel N, Anazi S, Kentab AY, Bashiri FA, Hamad MH, Jad L, Salih MA, Alsaif H, Hashem M, Faqeih E, Shamseddin HE, Alkuraya FS.

Clin Genet. 2017 Sep;92(3):327-331. doi: 10.1111/cge.12999. Epub 2017 Apr 19.

PMID:
28218389
12.

Phenotypic and Genotypic Analysis of Multidrug-Resistant Mycobacterium tuberculosis Isolates from Sudanese Patients.

Sabeel SM, Salih MA, Ali M, El-Zaki SE, Abuzeid N, Elgadi ZA, Altayb HN, Elegail AM, Ibrahim NY, Elamin BK.

Tuberc Res Treat. 2017;2017:8340746. doi: 10.1155/2017/8340746. Epub 2017 Jan 18.

13.

Prevalence of epilepsy in 74,949 school children in Khartoum State, Sudan.

Mohamed IN, Elseed MA, Hamed AA, Abdel-Rahman ME, El-Sadig SM, Omer IM, Osman AH, Ahmed AE, Karrar ZA, Salih MA.

Paediatr Int Child Health. 2017 Aug;37(3):188-192. doi: 10.1080/20469047.2016.1278110. Epub 2017 Feb 6.

PMID:
28162058
14.

Idiopathic intracranial hypertension in children: Diagnostic and management approach.

Albakr A, Hamad MH, Alwadei AH, Bashiri FA, Hassan HH, Idris H, Hassan S, Muayqil T, Altweijri I, Salih MA.

Sudan J Paediatr. 2016;16(2):67-76.

15.

Outstanding contribution of British medicine to child health in Sudan.

Salih MA, Swar MO.

Sudan J Paediatr. 2016;16(2):6-12. No abstract available.

16.

Characterizing the morbid genome of ciliopathies.

Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA; Ciliopathy WorkingGroup, Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS.

Genome Biol. 2016 Nov 28;17(1):242.

17.

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

Moen MN, Fjær R, Hamdani EH, Laerdahl JK, Menchini RJ, Vigeland MD, Sheng Y, Undlien DE, Hassel B, Salih MA, El Khashab HY, Selmer KK, Chaudhry FA.

Brain. 2016 Dec;139(Pt 12):3109-3120. Epub 2016 Oct 14.

PMID:
27742667
18.

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB.

J Hum Genet. 2017 Feb;62(2):243-252. doi: 10.1038/jhg.2016.116. Epub 2016 Oct 6.

19.
20.

Another horizon and breakthrough for the Sudanese Journal of Paediatrics.

Salih MA, Swar MO.

Sudan J Paediatr. 2016;16(1):6-8. No abstract available.

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