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	1.	A new association between CDK5RAP2 microcephaly and congenital cataracts. [electronic resource] by Alfares, Ahmed Alhufayti, Ibtihal Alsubaie, Lamia Alowain, Mohammed Almass, Rawan Alfadhel, Majid Kaya, Namik Eyaid, Wafaa Producer: 20190626 In: Annals of human genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature. [electronic resource] by Al-Muhaizea, Mohammad A AlMutairi, Faten Almass, Rawan AlHarthi, Safinaz Aldosary, Mazhor S Alsagob, Maysoon AlOdaib, Ali Colak, Dilek Kaya, Namik Producer: 20190722 In: Cerebellum (London, England) vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases. [electronic resource] by Alfadhel, Majid Nashabat, Marwan Alrifai, Muhammad Talal Alshaalan, Hesham Al Mutairi, Fuad Al-Shahrani, Saif A Plecko, Barbara Almass, Rawan Alsagob, Maysoon Almutairi, Faten B Al-Rumayyan, Ahmed Al-Twaijri, Waleed Al-Owain, Mohammed Taylor, Robert W Kaya, Namik Producer: 20180628 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. [electronic resource] by AlMuhaizea, Mohammed AlMass, Rawan AlHargan, Aljouhra AlBader, Anoud Medico Salsench, Eva Howaidi, Jude Ihinger, Jacie Karachunski, Peter Begtrup, Amber Segura Castell, Monica Bauer, Peter Bertoli-Avella, Aida Kaya, Ibrahim H AlSufayan, Jumanah AlQuait, Laila Chedrawi, Aziza Arold, Stefan T Colak, Dilek Barakat, Tahsin Stefan Kaya, Namik Producer: 20210517 In: Acta neuropathologica vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Identification of novel genomic imbalances in Saudi patients with congenital heart disease. [electronic resource] by Al-Hassnan, Zuhair N Albawardi, Waad Almutairi, Faten AlMass, Rawan AlBakheet, Albandary Mustafa, Osama M AlQuait, Laila Shinwari, Zarghuna M A Wakil, Salma Salih, Mustafa A Al-Fayyadh, Majid Hassan, Saeed M Aljoufan, Mansour Al-Nakhli, Osima Levy, Brynn AlMaarik, Balsam Al-Hakami, Hana A Alsagob, Maysoon Colak, Dilek Kaya, Namik Publication details: Molecular cytogenetics 2018 In: Molecular cytogenetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. [electronic resource] by Al-Hassnan, Zuhair N Al-Dosary, Mazhor Alfadhel, Majid Faqeih, Eissa A Alsagob, Maysoon Kenana, Rosan Almass, Rawan Al-Harazi, Olfat S Al-Hindi, Hindi Malibari, Omhani I Almutari, Faten B Tulbah, Sahar Alhadeq, Faten Al-Sheddi, Tarfa Alamro, Rana AlAsmari, Ali Almuntashri, Makki Alshaalan, Hesham Al-Mohanna, Futwan A Colak, Dilek Kaya, Namik Producer: 20160301 In: Journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	None [electronic resource] by Kaya, Namik Alsagob, Maysoon D'Adamo, Maria Cristina Al-Bakheet, Albandary Hasan, Sonia Muccioli, Maria Almutairi, Faten B Almass, Rawan Aldosary, Mazhor Monies, Dorota Mustafa, Osama M Alyounes, Banan Kenana, Rosan Al-Zahrani, Jawaher Naim, Eva Binhumaid, Faisal S Qari, Alya Almutairi, Fatema Meyer, Brian Plageman, Timothy F Pessia, Mauro Colak, Dilek Al-Owain, Mohammed Publication details: Journal of medical genetics Nov 2016 In: Journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways. [electronic resource] by Aldosary, Mazhor Al-Bakheet, AlBandary Al-Dhalaan, Hesham Almass, Rawan Alsagob, Maysoon Al-Younes, Banan AlQuait, Laila Mustafa, Osama Mufid Bulbul, Mustafa Rahbeeni, Zuhair Alfadhel, Majid Chedrawi, Aziza Al-Hassnan, Zuhair AlDosari, Mohammed Al-Zaidan, Hamad Al-Muhaizea, Mohammad A AlSayed, Moeenaldeen D Salih, Mustafa A AlShammari, Mai Faiyaz-Ul-Haque, Muhammad Chishti, Mohammad Azhar Al-Harazi, Olfat Al-Odaib, Ali Kaya, Namik Colak, Dilek Producer: 20210430 In: Omics : a journal of integrative biology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Molecular and clinical spectra of FBXL4 deficiency. [electronic resource] by El-Hattab, Ayman W Dai, Hongzheng Almannai, Mohammed Wang, Julia Faqeih, Eissa A Al Asmari, Ali Saleh, Mohammed A M Elamin, Mohammed A O Alfadhel, Majid Alkuraya, Fowzan S Hashem, Mais Aldosary, Mazhor S Almass, Rawan Almutairi, Faten B Alsagob, Maysoon Al-Owain, Mohammed Al-Sharfa, Shirin Al-Hassnan, Zuhair N Rahbeeni, Zuhair Al-Muhaizea, Mohammed A Makhseed, Nawal Foskett, Gretchen K Stevenson, David A Gomez-Ospina, Natalia Lee, Chung Boles, Richard G Schrier Vergano, Samantha A Wortmann, Saskia B Sperl, Wolfgang Opladen, Thomas Hoffmann, Georg F Hempel, Maja Prokisch, Holger Alhaddad, Bader Mayr, Johannes A Chan, Wenyaw Kaya, Namik Wong, Lee-Jun C Producer: 20180618 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. [electronic resource] by Perenthaler, Elena Nikoncuk, Anita Yousefi, Soheil Berdowski, Woutje M Alsagob, Maysoon Capo, Ivan van der Linde, Herma C van den Berg, Paul Jacobs, Edwin H Putar, Darija Ghazvini, Mehrnaz Aronica, Eleonora van IJcken, Wilfred F J de Valk, Walter G Medici-van den Herik, Evita van Slegtenhorst, Marjon Brick, Lauren Kozenko, Mariya Kohler, Jennefer N Bernstein, Jonathan A Monaghan, Kristin G Begtrup, Amber Torene, Rebecca Al Futaisi, Amna Al Murshedi, Fathiya Mani, Renjith Al Azri, Faisal Kamsteeg, Erik-Jan Mojarrad, Majid Eslahi, Atieh Khazaei, Zaynab Darmiyan, Fateme Massinaei Doosti, Mohammad Karimiani, Ehsan Ghayoor Vandrovcova, Jana Zafar, Faisal Rana, Nuzhat Kandaswamy, Krishna K Hertecant, Jozef Bauer, Peter AlMuhaizea, Mohammed A Salih, Mustafa A Aldosary, Mazhor Almass, Rawan Al-Quait, Laila Qubbaj, Wafa Coskun, Serdar Alahmadi, Khaled O Hamad, Muddathir H A Alwadaee, Salem Awartani, Khalid Dababo, Anas M Almohanna, Futwan Colak, Dilek Dehghani, Mohammadreza Mehrjardi, Mohammad Yahya Vahidi Gunel, Murat Ercan-Sencicek, A Gulhan Passi, Gouri Rao Cheema, Huma Arshad Efthymiou, Stephanie Houlden, Henry Bertoli-Avella, Aida M Brooks, Alice S Retterer, Kyle Maroofian, Reza Kaya, Namik van Ham, Tjakko J Barakat, Tahsin Stefan Producer: 20210517 In: Acta neuropathologica vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)