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	1.	A new NBIA patient from Turkey with homozygous C19ORF12 mutation. [electronic resource] by Kasapkara, Çiğdem Seher Tümer, Leyla Gregory, Allison Ezgü, Fatih İnci, Aslı Derinkuyu, Betül Emine Fox, Rachel Rogers, Caleb Hayflick, Susan Producer: 20200406 In: Acta neurologica Belgica vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus. [electronic resource] by Woltjer, Randall L Reese, Lindsay C Richardson, Brian E Tran, Huong Green, Sarah Pham, Thao Chalupsky, Megan Gabriel, Isabella Light, Tyler Sanford, Lynn Jeong, Suh Young Hamada, Jeffrey Schwanemann, Leila K Rogers, Caleb Gregory, Allison Hogarth, Penelope Hayflick, Susan J Producer: 20160926 In: Molecular genetics and metabolism vol. 116 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. [electronic resource] by Heimer, Gali Kerätär, Juha M Riley, Lisa G Balasubramaniam, Shanti Eyal, Eran Pietikäinen, Laura P Hiltunen, J Kalervo Marek-Yagel, Dina Hamada, Jeffrey Gregory, Allison Rogers, Caleb Hogarth, Penelope Nance, Martha A Shalva, Nechama Veber, Alvit Tzadok, Michal Nissenkorn, Andreea Tonduti, Davide Renaldo, Florence Kraoua, Ichraf Panteghini, Celeste Valletta, Lorella Garavaglia, Barbara Cowley, Mark J Gayevskiy, Velimir Roscioli, Tony Silberstein, Jonathon M Hoffmann, Chen Raas-Rothschild, Annick Tiranti, Valeria Anikster, Yair Christodoulou, John Kastaniotis, Alexander J Ben-Zeev, Bruria Hayflick, Susan J Producer: 20170523 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. [electronic resource] by Koczkowska, Magdalena Callens, Tom Chen, Yunjia Gomes, Alicia Hicks, Alesha D Sharp, Angela Johns, Eric Uhas, Kim Armfield Armstrong, Linlea Bosanko, Katherine Armstrong Babovic-Vuksanovic, Dusica Baker, Laura Basel, Donald G Bengala, Mario Bennett, James T Chambers, Chelsea Clarkson, Lola K Clementi, Maurizio Cortés, Fanny M Cunningham, Mitch D'Agostino, M Daniela Delatycki, Martin B Digilio, Maria C Dosa, Laura Esposito, Silvia Fox, Stephanie Freckmann, Mary-Louise Fauth, Christine Giugliano, Teresa Giustini, Sandra Goetsch, Allison Goldberg, Yael Greenwood, Robert S Griffis, Cristin Gripp, Karen W Gupta, Punita Haan, Eric Hachen, Rachel K Haygarth, Tamara L Hernández-Chico, Concepción Hodge, Katelyn Hopkin, Robert J Hudgins, Louanne Janssens, Sandra Keller, Kory Kelly-Mancuso, Geraldine Kochhar, Aaina Korf, Bruce R Lewis, Andrea M Liebelt, Jan Lichty, Angie Listernick, Robert H Lyons, Michael J Maystadt, Isabelle Martinez Ojeda, Mayra McDougall, Carey McGregor, Lesley K Melis, Daniela Mendelsohn, Nancy Nowaczyk, Malgorzata J M Ortenberg, June Panzer, Karin Pappas, John G Pierpont, Mary Ella Piluso, Giulio Pinna, Valentina Pivnick, Eniko K Pond, Dinel A Powell, Cynthia M Rogers, Caleb Ruhrman Shahar, Noa Rutledge, S Lane Saletti, Veronica Sandaradura, Sarah A Santoro, Claudia Schatz, Ulrich A Schreiber, Allison Scott, Daryl A Sellars, Elizabeth A Sheffer, Ruth Siqveland, Elizabeth Slopis, John M Smith, Rosemarie Spalice, Alberto Stockton, David W Streff, Haley Theos, Amy Tomlinson, Gail E Tran, Grace Trapane, Pamela L Trevisson, Eva Ullrich, Nicole J Van den Ende, Jenneke Schrier Vergano, Samantha A Wallace, Stephanie E Wangler, Michael F Weaver, David D Yohay, Kaleb H Zackai, Elaine Zonana, Jonathan Zurcher, Vickie Claes, Kathleen B M Eoli, Marica Martin, Yolanda Wimmer, Katharina De Luca, Alessandro Legius, Eric Messiaen, Ludwine M Producer: 20210519 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)