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	1.	Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population. [electronic resource] by Mumtaz, Sara Riaz, Hafiza Fizzah Touseef, Mohammad Basit, Sulman Faiyaz Ul Haque, Muhammad Malik, Sajid Producer: 20160212 In: Pakistan journal of medical sciences vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Profound biotinidase deficiency in a child with predominantly spinal cord disease. [electronic resource] by Chedrawi, Aziza K Ali, Ayman Al Hassnan, Zuhair N Faiyaz-Ul-Haque, Muhammad Wolf, Barry Producer: 20090108 In: Journal of child neurology vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Multiple paraganglioma syndrome type 4 due to succinate dehydrogenase B mutation: diagnostic and therapeutic challenges of a skull base paraganglioma masquerading as nasopharyngeal cancer. [electronic resource] by Alzahrani, Ali S Alshaikh, Omalkhaire Faiyaz-Ul-Haque, Muhammad Abalkhail, Halah Al-Dayel, Fouad Hindi, Hindi Al Producer: 20100914 In: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5. [electronic resource] by Faiyaz-Ul-Haque, Muhammad Faqeih, Eissa A Al-Zaidan, Hamad Al-Shammary, Amal Zaidi, Syed H E Producer: 20081222 In: Journal of bone and mineral metabolism vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. [electronic resource] by Rafiq, Muhammad Arshad Ansar, Muhammad Mahmood, Saqib Haque, Sayedul Faiyaz-ul-Haque, Muhammad Leal, Suzanne M Ahmad, Wasim Producer: 20040726 In: The Journal of investigative dermatology vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. [electronic resource] by Zaidi, Syed H E Meyer, Sascha Peltekova, Vanya D Lindinger, Angelika Teebi, Ahmad S Faiyaz-Ul-Haque, Muhammad Producer: 20090819 In: European journal of pediatrics vol. 168 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. [electronic resource] by Abdul Wahab, A Janahi, I A Eltohami, A Zeid, A Faiyaz Ul Haque, Muhammad Ul Haque, N F Teebi, A S Producer: 20030709 In: Acta paediatrica (Oslo, Norway : 1992) vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease. [electronic resource] by Faiyaz-Ul-Haque, Muhammad Jamil, Masood Aslam, Muhammad Abalkhail, Halah Al-Dayel, Fouad Basit, Sulman Nawaz, Zafar Zaidi, Syed H E Producer: 20200921 In: Cancer genetics vol. 243 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation. [electronic resource] by Faiyaz-Ul-Haque, Muhammad AlDhalaan, Waheeb AlAshwal, Abdullah Bin-Abbas, Bassam S AlSagheir, Afaf Alotaiby, Maram Rafiq, Zulqurnain Zaidi, Syed H E Producer: 20181127 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Autoimmune polyglandular syndrome type 1 in Saudi children. [electronic resource] by Bin-Abbas, Bassam S Faiyaz-Ul-Haque, Muhammad Al-Fares, Abdullah H Al-Gazlan, Sulaiman S Bhuiyan, Jalaluddin A Al-Muhsen, Saleh Z Producer: 20101101 In: Saudi medical journal vol. 31 Availability: No items available. Save to lists Add to cart (remove)
	11.	Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). [electronic resource] by Seidler, Daniela G Faiyaz-Ul-Haque, Muhammad Hansen, Uwe Yip, George W Zaidi, Syed H E Teebi, Ahmad S Kiesel, Ludwig Götte, Martin Producer: 20070419 In: Journal of molecular medicine (Berlin, Germany) vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. [electronic resource] by Faiyaz-Ul-Haque, Muhammad Zaidi, Syed Hassan Ejaz Al-Ali, Mariam Al-Mureikhi, Mariam S Kennedy, Shelley Al-Thani, Ghalia Tsui, Lap-Chee Teebi, Ahmad Said Producer: 20041222 In: American journal of medical genetics. Part A vol. 128A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis. [electronic resource] by Kappanayil, Mahesh Nampoothiri, Sheela Kannan, Rajesh Renard, Marjolijn Coucke, Paul Malfait, Fransiska Menon, Swapna Ravindran, Hiran K Kurup, Renu Faiyaz-Ul-Haque, Muhammad Kumar, Krishna De Paepe, Anne Producer: 20130621 In: Orphanet journal of rare diseases vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Novel and recurrent mutations in the C1NH gene of Arab patients affected with hereditary angioedema. [electronic resource] by Faiyaz-Ul-Haque, Muhammad Al-Gazlan, Sulaiman Abalkhail, Halah A Al-Abdulatif, Ahmad Toulimat, Mohamed Peltekova, Iskra Khaliq, Agha M R Al-Dayel, Fouad Zaidi, Syed H E Producer: 20100222 In: International archives of allergy and immunology vol. 151 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Spectrum of the KIT Gene Mutations in Gastrointestinal Stromal Tumors in Arab Patients [electronic resource] by Faiyaz-Ul-Haque, Muhammad Al-Dayel, Fouad Tulba, Asma Abalkhail, Halah Alhussaini, Hussa Memon, Muhammad Bazarbashi, Shouki Amin, Tarek Satti, Mohamed B Peltekova, Iskra Nawaz, Zafar Zaidi, Syed HE Producer: 20190205 In: Asian Pacific journal of cancer prevention : APJCP vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. [electronic resource] by Faiyaz-Ul-Haque, Muhammad Ahmad, Wasim Wahab, Abdul Haque, Sayedul Azim, Anser C Zaidi, Syed H E Teebi, Ahmad S Ahmad, Mahmud Cohn, Daniel H Siddique, Teepu Tsui, Lap-Chee Producer: 20030108 In: American journal of medical genetics vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. [electronic resource] by Faiyaz-Ul-Haque, Muhammad Zaidi, Syed H E Al-Sanna, Nouriyah Alswaid, Abdulrahman Momenah, Tariq Kaya, Namik Al-Dayel, Fouad Bouhoaigah, Issam Saliem, Mohammed Tsui, Lap-Chee Teebi, Ahmad S Producer: 20090825 In: Atherosclerosis vol. 203 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Mutations in MSX1, PAX9 and MMP20 genes in Saudi Arabian patients with tooth agenesis. [electronic resource] by Shahid, Mohammad Balto, Hanan A Al-Hammad, Nouf Joshi, S Khalil, Hesham Saleh Somily, Ali Mohammed Sinjilawi, Nasr Abdul-Aziz Al-Ghamdi, Sameer Faiyaz-Ul-Haque, Muhammad Dhillon, Varinderpal S Producer: 20170206 In: European journal of medical genetics vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. [electronic resource] by AlAsiri, Saleh Basit, Sulman Wood-Trageser, Michelle A Yatsenko, Svetlana A Jeffries, Elizabeth P Surti, Urvashi Ketterer, Deborah M Afzal, Sibtain Ramzan, Khushnooda Faiyaz-Ul Haque, Muhammad Jiang, Huaiyang Trakselis, Michael A Rajkovic, Aleksandar Producer: 20150421 In: The Journal of clinical investigation vol. 125 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency. [electronic resource] by Faiyaz-Ul-Haque, Muhammad Al-Owain, Mohammed Al-Dayel, Fouad Al-Hassnan, Zuhair Al-Zaidan, Hamad Rahbeeni, Zuhair Al-Sayed, Moeen Balobaid, Ameera Cluntun, Ahmad Toulimat, Mohamed Abalkhail, Hala Peltekova, Iskra Zaidi, Syed H E Producer: 20101122 In: European journal of pediatrics vol. 168 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 24 results.