Your search returned 6 results.

Results
	1.	Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness. [electronic resource] by Palmer, Elizabeth E Schofield, Deborah Shrestha, Rupendra Kandula, Tejaswi Macintosh, Rebecca Lawson, John A Andrews, Ian Sampaio, Hugo Johnson, Alexandra M Farrar, Michelle A Cardamone, Michael Mowat, David Elakis, George Lo, William Zhu, Ying Ying, Kevin Morris, Paula Tao, Jiang Dias, Kerith-Rae Buckley, Michael Dinger, Marcel E Cowley, Mark J Roscioli, Tony Kirk, Edwin P Bye, Ann Sachdev, Rani K Producer: 20180924 In: Molecular genetics & genomic medicine vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. [electronic resource] by Palmer, Elizabeth E Jarrett, Kelsey E Sachdev, Rani K Al Zahrani, Fatema Hashem, Mais Omar Ibrahim, Niema Sampaio, Hugo Kandula, Tejaswi Macintosh, Rebecca Gupta, Rajat Conlon, Donna M Billheimer, Jeffrey T Rader, Daniel J Funato, Kouichi Walkey, Christopher J Lee, Chang Seok Loo, Christine Brammah, Susan Elakis, George Zhu, Ying Buckley, Michael Kirk, Edwin P Bye, Ann Alkuraya, Fowzan S Roscioli, Tony Lagor, William R Producer: 20170720 In: Human molecular genetics vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. [electronic resource] by Gennarino, Vincenzo A Palmer, Elizabeth E McDonell, Laura M Wang, Li Adamski, Carolyn J Koire, Amanda See, Lauren Chen, Chun-An Schaaf, Christian P Rosenfeld, Jill A Panzer, Jessica A Moog, Ute Hao, Shuang Bye, Ann Kirk, Edwin P Stankiewicz, Pawel Breman, Amy M McBride, Arran Kandula, Tejaswi Dubbs, Holly A Macintosh, Rebecca Cardamone, Michael Zhu, Ying Ying, Kevin Dias, Kerith-Rae Cho, Megan T Henderson, Lindsay B Baskin, Berivan Morris, Paula Tao, Jiang Cowley, Mark J Dinger, Marcel E Roscioli, Tony Caluseriu, Oana Suchowersky, Oksana Sachdev, Rani K Lichtarge, Olivier Tang, Jianrong Boycott, Kym M Holder, J Lloyd Zoghbi, Huda Y Producer: 20190121 In: Cell vol. 172 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. [electronic resource] by Palmer, Elizabeth E Hong, Seungbeom Al Zahrani, Fatema Hashem, Mais O Aleisa, Fajr A Ahmed, Heba M Jalal Kandula, Tejaswi Macintosh, Rebecca Minoche, Andre E Puttick, Clare Gayevskiy, Velimir Drew, Alexander P Cowley, Mark J Dinger, Marcel Rosenfeld, Jill A Xiao, Rui Cho, Megan T Yakubu, Suliat F Henderson, Lindsay B Guillen Sacoto, Maria J Begtrup, Amber Hamad, Muddathir Shinawi, Marwan Andrews, Marisa V Jones, Marilyn C Lindstrom, Kristin Bristol, Ruth E Kayani, Saima Snyder, Molly Villanueva, María Mercedes Schteinschnaider, Angeles Faivre, Laurence Thauvin, Christel Vitobello, Antonio Roscioli, Tony Kirk, Edwin P Bye, Ann Merzaban, Jasmeen Jaremko, Łukasz Jaremko, Mariusz Sachdev, Rani K Alkuraya, Fowzan S Arold, Stefan T Producer: 20191218 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	De novo and biallelic DEAF1 variants cause a phenotypic spectrum. [electronic resource] by Nabais Sá, Maria J Jensik, Philip J McGee, Stacey R Parker, Michael J Lahiri, Nayana McNeil, Evan P Kroes, Hester Y Hagerman, Randi J Harrison, Rachel E Montgomery, Tara Splitt, Miranda Palmer, Elizabeth E Sachdev, Rani K Mefford, Heather C Scott, Abbey A Martinez-Agosto, Julian A Lorenz, Rüdiger Orenstein, Naama Berg, Jonathan N Amiel, Jeanne Heron, Delphine Keren, Boris Cobben, Jan-Maarten Menke, Leonie A Marco, Elysa J Graham, John M Pierson, Tyler Mark Karimiani, Ehsan Ghayoor Maroofian, Reza Manzini, M Chiara Cauley, Edmund S Colombo, Roberto Odent, Sylvie Dubourg, Christele Phornphutkul, Chanika de Brouwer, Arjan P M de Vries, Bert B A Vulto-vanSilfhout, Anneke T Producer: 20200204 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome. [electronic resource] by Palmer, Elizabeth E Hong, Seungbeom Al Zahrani, Fatema Hashem, Mais O Aleisa, Fajr A Jalal Ahmed, Heba M Kandula, Tejaswi Macintosh, Rebecca Minoche, Andre E Puttick, Clare Gayevskiy, Velimir Drew, Alexander P Cowley, Mark J Dinger, Marcel Rosenfeld, Jill A Xiao, Rui Cho, Megan T Yakubu, Suliat F Henderson, Lindsay B Guillen Sacoto, Maria J Begtrup, Amber Hamad, Muddathir Shinawi, Marwan Andrews, Marisa V Jones, Marilyn C Lindstrom, Kristin Bristol, Ruth E Kayani, Saima Snyder, Molly Villanueva, Marıá Mercedes Schteinschnaider, Angeles Faivre, Laurence Thauvin, Christel Vitobello, Antonio Roscioli, Tony Kirk, Edwin P Bye, Ann Merzaban, Jasmeen Jaremko, Łukasz Jaremko, Mariusz Sachdev, Rani K Alkuraya, Fowzan S Arold, Stefan T Publication details: American journal of human genetics Apr 2019 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)