Koczkowska, Magdalena

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Koczkowska, Magdalena , Callens, Tom, Chen, Yunjia , Gomes, Alicia , Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim, Armstrong, Linlea , Bosanko, Katherine A. , Babovic‐Vuksanovic, Dusica , Baker, Laura, Basel, Donald , Bengala, Mario, Chambers, Chelsea , Clarkson, L. Kate, Clementi, Maurizio , Cortés, Fanny, Cunningham, Mitch , D’Agostino, Daniela , Delatycki, Martin B. , Digilio, M. Cristina , Dosa, Laura, Esposito, Silvia , Freckmann, Mary‐Louise , Fauth, Christine , Giugliano, Teresa , Giustini, Sandra , Goetsch, Allison L. , Goldberg, Yael , Greenwood, Robert , 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 , Lyons, Michael J. , Maystadt, Isabelle , Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley , Melis, Daniela , Mendelsohn, Nancy J., Nowaczyk, Małgorzata J.M. , Ortenberg, June, Panzer, Karin, Pappas, John , Pierpont, Mary Ella , Pinna, Valentina, Pivnick, Enikö K., Pond, Dinel , Powell, Cynthia M. , Rogers, Caleb , Ruhrman‐Shahar, Noa , Rutledge, S. Lane , Saletti, Veronica , Sandaradura, Sarah A. , Schatz, Ulrich A. , Schreiber, Allison, Sellars, Elizabeth A. , Siqveland, Elizabeth, Slopis, John M. , Smith, Rosemarie, Spalice, Alberto , Stockton, David W., Streff, Haley , Theos, Amy , Tran, Grace , Trapane, Pamela , Trevisson, Eva , Ullrich, Nicole J. , Ende, Jenneke van den , Wallace, Stephanie E , Weaver, David D. , Yohay, Kaleb , Zackai, Elaine H. , Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen , Eoli, Marica , Wimmer, Katharina , Luca, Alessandro De , Messiaen, Ludwine , Trevisson, Eva , Wangler, Michael F , Claes, Kathleen B M , Wimmer, Katharina , De Luca, Alessandro , Messiaen, Ludwine M , Gupta, Punita , Bennett, James T , Fox, Stephanie, Hernández-Chico, Concepción, Piluso, Giulio , Santoro, Claudia , Scott, Daryl A , Sheffer, Ruth N. , Tomlinson, Gail Elizabeth , Vergano, Samantha A. Schrier , Martín, Yolanda , Legius, Eric

Human Mutation | October 9, 2019 | Volume: 41 | Issue: 1 | Pages: 299-315

10.1002/humu.23929