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Items: 1 to 20 of 53

1.

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.

Ramzan K, Bin-Abbas B, Al-Jomaa L, Allam R, Al-Owain M, Imtiaz F.

BMC Endocr Disord. 2017 Mar 16;17(1):17. doi: 10.1186/s12902-017-0164-8.

2.

Examining Young Recreational Male Soccer Players' Experience in Adult- and Peer-Led Structures.

Imtiaz F, Hancock DJ, Côté J.

Res Q Exerc Sport. 2016 Sep;87(3):295-304. doi: 10.1080/02701367.2016.1189073. Epub 2016 Jun 17.

PMID:
27314864
3.

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.

Diaz-Horta O, Abad C, Sennaroglu L, Foster J 2nd, DeSmidt A, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Grati M, Fitoz S, Liu XZ, Farooq A, Imtiaz F, Currall BB, Morton CC, Nishita M, Minami Y, Lu Z, Walz K, Tekin M.

Proc Natl Acad Sci U S A. 2016 May 24;113(21):5993-8. doi: 10.1073/pnas.1522512113.

4.

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.

Abouelhoda M, Sobahy T, El-Kalioby M, Patel N, Shamseldin H, Monies D, Al-Tassan N, Ramzan K, Imtiaz F, Shaheen R, Alkuraya FS.

Genet Med. 2016 Dec;18(12):1244-1249. doi: 10.1038/gim.2016.37.

PMID:
27124789
5.

Molecular characterization of novel splice site mutation causing protein C deficiency.

Al-Hamed MH, AlBatniji F, AlDakheel GA, El-Faraidi H, Al-Zahrani A, Al-Abbass F, Imtiaz F.

Blood Coagul Fibrinolysis. 2016 Jul;27(5):585-8. doi: 10.1097/MBC.0000000000000490.

PMID:
26656900
6.

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

Imtiaz F, Al-Mubarak BM, Al-Mostafa A, Al-Hamed M, Allam R, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Faqeih EA, Alasmari A, Al-Mutairi F, Alfadhel M, Eyaid WM, Rashed MS, Al-Sayed M.

JIMD Rep. 2016;29:39-46.

7.

Variation in DNAH1 may contribute to primary ciliary dyskinesia.

Imtiaz F, Allam R, Ramzan K, Al-Sayed M.

BMC Med Genet. 2015 Mar 17;16:14. doi: 10.1186/s12881-015-0162-5.

8.

Quality of Life After Living Donor Hepatectomy for Liver Transplantation.

Bhatti AB, Zia H, Dar FS, Zia MQ, Nasir A, Saif F, WahabYousafzai A, Imtiaz F, Salih M, Shah NH.

World J Surg. 2015 Sep;39(9):2300-5. doi: 10.1007/s00268-015-3086-5.

PMID:
25917198
9.

Elevated fasting blood glucose is associated with increased risk of breast cancer: outcome of case-control study conducted in Karachi, Pakistan.

Haseen SD, Khanam A, Sultan N, Idrees F, Akhtar N, Imtiaz F.

Asian Pac J Cancer Prev. 2015;16(2):675-8.

10.

Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.

Khalifa O, Al-Sahlawi Z, Imtiaz F, Ramzan K, Allam R, Al-Mostafa A, Abdel-Fattah M, Abuharb G, Nester M, Verloes A, Al-Zaidan H.

Eur J Med Genet. 2015 May;58(5):293-9. doi: 10.1016/j.ejmg.2014.12.008. Review.

PMID:
25682901
11.

Tracheobronchial anomalies in a patient with Schimke immuno-osseous dysplasia (SIOD).

Mobeireek A, Saleemi S, Khalid M, Imtiaz F, Almutairy EA.

Am J Med Genet A. 2015 Feb;167A(2):434-7. doi: 10.1002/ajmg.a.36858.

PMID:
25428399
12.

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.

Khalifa O, Imtiaz F, Ramzan K, Allam R, Hemidan AA, Faqeih E, Abuharb G, Balobaid A, Sakati N, Owain MA.

Am J Med Genet A. 2014 Oct;164A(10):2601-6. doi: 10.1002/ajmg.a.36681.

PMID:
25073711
13.

ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.

Ramzan K, Taibah K, Tahir AI, Al-Tassan N, Berhan A, Khater AM, Al-Hazzaa SA, Al-Owain M, Imtiaz F.

Eur J Med Genet. 2014 May-Jun;57(6):253-8. doi: 10.1016/j.ejmg.2014.04.004.

PMID:
24768815
14.

Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan.

Fatima T, Zaidi SA, Sarfraz N, Perween S, Khurshid F, Imtiaz F.

Am J Med Genet A. 2014 May;164A(5):1151-61. doi: 10.1002/ajmg.a.36423.

PMID:
24478267
15.

COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.

Ramzan K, Imtiaz F, Taibah K, Alnufiee S, Akhtar M, Al-Hazzaa SA, Al-Owain M.

Int J Pediatr Otorhinolaryngol. 2014 Mar;78(3):427-32. doi: 10.1016/j.ijporl.2013.12.008.

PMID:
24398087
16.

Prevalence and clinical profile of insulin resistance in young women of poly cystic ovary syndrome: A study from Pakistan.

Tabassum R, Imtiaz F, Sharafat S, Shukar-Ud-Din S, Nusrat U.

Pak J Med Sci. 2013 Apr;29(2):593-6.

17.

Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.

Albash B, Imtiaz F, Al-Zaidan H, Al-Manea H, Banemai M, Allam R, Al-Suheel A, Al-Owain M.

Eur J Pediatr. 2014 May;173(5):647-53. doi: 10.1007/s00431-013-2223-0. Review.

PMID:
24326380
18.

Areca nut chewing and metabolic syndrome: evidence of a harmful relationship.

Shafique K, Zafar M, Ahmed Z, Khan NA, Mughal MA, Imtiaz F.

Nutr J. 2013 May 20;12:67. doi: 10.1186/1475-2891-12-67.

19.

Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family.

Ramzan K, Al-Owain M, Allam R, Berhan A, Abuharb G, Taibah K, Imtiaz F.

Gene. 2013 May 25;521(1):195-9. doi: 10.1016/j.gene.2013.03.042.

PMID:
23510777
20.

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