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	1.	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)
	2.	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)