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	1.	A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. [electronic resource] by Shaheen, Ranad Faqeih, Eissa Ansari, Shinu Alkuraya, Fowzan S Producer: 20140623 In: Neurogenetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Mutations in TMEM231 cause Meckel-Gruber syndrome. [electronic resource] by Shaheen, Ranad Ansari, Shinu Mardawi, Elham Al Alshammari, Muneera J Alkuraya, Fowzan S Producer: 20131125 In: Journal of medical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	T (brachyury) is linked to a Mendelian form of neural tube defects in humans. [electronic resource] by Shaheen, Ranad Alshail, Essam Alaqeel, Ahmed Ansari, Shinu Hindieh, Farah Alkuraya, Fowzan S Producer: 20151130 In: Human genetics vol. 134 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. [electronic resource] by Shaheen, Ranad Ansari, Shinu Alshammari, Muneera J Alkhalidi, Hisham Alrukban, Hadeel Eyaid, Wafaa Alkuraya, Fowzan S Producer: 20140214 In: Journal of medical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Genomic analysis of primordial dwarfism reveals novel disease genes. [electronic resource] by Shaheen, Ranad Faqeih, Eissa Ansari, Shinu Abdel-Salam, Ghada Al-Hassnan, Zuhair N Al-Shidi, Tarfa Alomar, Rana Sogaty, Sameera Alkuraya, Fowzan S Producer: 20140609 In: Genome research vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. [electronic resource] by Shaheen, Ranad Alazami, Anas M Alshammari, Muneera J Faqeih, Eissa Alhashmi, Nadia Mousa, Noon Alsinani, Aisha Ansari, Shinu Alzahrani, Fatema Al-Owain, Mohammed Alzayed, Zayed S Alkuraya, Fowzan S Producer: 20130314 In: Journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. [electronic resource] by Shaheen, Ranad Aglan, Mona Keppler-Noreuil, Kim Faqeih, Eissa Ansari, Shinu Horton, Kim Ashour, Adel Zaki, Maha S Al-Zahrani, Fatema Cueto-González, Anna M Abdel-Salam, Ghada Temtamy, Samia Alkuraya, Fowzan S Producer: 20130604 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. [electronic resource] by Shaheen, Ranad Faqeih, Eissa Alshammari, Muneera J Swaid, Abdulrahman Al-Gazali, Lihadh Mardawi, Elham Ansari, Shinu Sogaty, Sameera Seidahmed, Mohammed Z AlMotairi, Muhammed I Farra, Chantal Kurdi, Wesam Al-Rasheed, Shatha Alkuraya, Fowzan S Producer: 20131104 In: European journal of human genetics : EJHG vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. [electronic resource] by Shaheen, Ranad Shamseldin, Hanan E Loucks, Catrina M Seidahmed, Mohammed Zain Ansari, Shinu Ibrahim Khalil, Mohamed Al-Yacoub, Nadya Davis, Erica E Mola, Natalie A Szymanska, Katarzyna Herridge, Warren Chudley, Albert E Chodirker, Bernard N Schwartzentruber, Jeremy Majewski, Jacek Katsanis, Nicholas Poizat, Coralie Johnson, Colin A Parboosingh, Jillian Boycott, Kym M Innes, A Micheil Alkuraya, Fowzan S Producer: 20140224 In: American journal of human genetics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)