المؤلفون: María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/ae986c1ae3dd41bca1ed0fb9586a13c8Test

المؤلفون: Koczkowska M, Callens T, Yunjia Chen 1, Alicia Gomes 1, Alesha D Hicks 1, Angela Sharp 1, Eric Johns 1, Kim Armfield Uhas 2, Linlea Armstrong 3, Katherine Armstrong Bosanko 4, Dusica Babovic-Vuksanovic 5, Laura Baker 6, Donald G Basel 7, Mario Bengala 8, James T Bennett 9, Chelsea Chambers 10, Lola K Clarkson 11, Maurizio Clementi 12, Fanny M Cortés 13, Mitch Cunningham 14, M Daniela D'Agostino 15, Martin B Delatycki 16, Maria C Digilio 17, Laura Dosa 18, Silvia Esposito 19, Stephanie Fox 15, Mary-Louise Freckmann 20, Christine Fauth 21, Teresa Giugliano 22, Giustini S, Allison Goetsch 24, Yael Goldberg 25, Robert S Greenwood 26, Cristin Griffis 7, Karen W Gripp 6, Punita Gupta 27, Eric Haan 28, Rachel K Hachen 29, Tamara L Haygarth 30, Concepción Hernández-Chico 31, Katelyn Hodge 32, Robert J Hopkin 33, Louanne Hudgins 34, Sandra Janssens 35, Kory Keller 36, Geraldine Kelly-Mancuso 33, Aaina Kochhar 37, Bruce R Korf 1, Andrea M Lewis 38, Jan Liebelt 39, Angie Lichty 11, Robert H Listernick 24, Michael J Lyons 11, Isabelle Maystadt 40, Mayra Martinez Ojeda 41, Carey McDougall 42, Lesley K McGregor 39, Daniela Melis 43, Nancy Mendelsohn 44, Malgorzata J M Nowaczyk 45, June Ortenberg 15, Karin Panzer 46, John G Pappas 47, Mary Ella Pierpont 48, Giulio Piluso 22, Valentina Pinna 49, Eniko K Pivnick 50, Dinel A Pond 44, Cynthia M Powell 51, Caleb Rogers 36, Noa Ruhrman Shahar 25, S Lane Rutledge 1, Veronica Saletti 19, Sarah A Sandaradura 52, Claudia Santoro 53, Ulrich A Schatz 21, Allison Schreiber 54, Daryl A Scott 38, Elizabeth A Sellars 4, Ruth Sheffer 55, Elizabeth Siqveland 44, John M Slopis 56, Rosemarie Smith 57, Alberto Spalice 58, David W Stockton 14, Haley Streff 38, Amy Theos 59, Gail E Tomlinson 60, Grace Tran 61, Pamela L Trapane 62, Eva Trevisson 12, Nicole J Ullrich 63, Jenneke Van den Ende 64, Samantha A Schrier Vergano 65, Stephanie E Wallace 9, Michael F Wangler 38, David D Weaver 32, Kaleb H Yohay 66, Elaine Zackai 42, Jonathan Zonana 36, Vickie Zurcher 54, Kathleen B M Claes 35, Marica Eoli 67, Yolanda Martin 31, Katharina Wimmer 21, Alessandro De Luca 49, Eric Legius 68, Ludwine M Messiaen 1

المساهمون: Koczkowska, M, Callens, T, Yunjia Chen, 1, Alicia Gomes, 1, Alesha, D Hicks 1, Angela Sharp, 1, Eric Johns, 1, Kim Armfield Uhas, 2, Linlea Armstrong, 3, Katherine Armstrong Bosanko, 4, Dusica Babovic-Vuksanovic, 5, Laura Baker, 6, Donald, G Basel 7, Mario Bengala, 8, James, T Bennett 9, Chelsea Chambers, 10, Lola, K Clarkson 11, Maurizio Clementi, 12, Fanny, M Cortés 13, Mitch Cunningham, 14, M Daniela D'Agostino, 15, Martin, B Delatycki 16, Maria, C Digilio 17, Laura Dosa, 18, Silvia Esposito, 19, Stephanie Fox, 15, Mary-Louise Freckmann, 20, Christine Fauth, 21, Teresa Giugliano, 22, Giustini, S, Allison Goetsch, 24, Yael Goldberg, 25, Robert, S Greenwood 26, Cristin Griffis, 7, Karen, W Gripp 6, Punita Gupta, 27, Eric Haan, 28, Rachel, K Hachen 29, Tamara, L Haygarth 30, Concepción Hernández-Chico, 31, Katelyn Hodge, 32, Robert, J Hopkin 33, Louanne Hudgins, 34, Sandra Janssens, 35, Kory Keller, 36, Geraldine Kelly-Mancuso, 33, Aaina Kochhar, 37, Bruce, R Korf 1, Andrea, M Lewis 38, Jan Liebelt, 39, Angie Lichty, 11, Robert, H Listernick 24, Michael, J Lyons 11, Isabelle Maystadt, 40, Mayra Martinez Ojeda, 41, Carey McDougall, 42, Lesley, K McGregor 39, Daniela Melis, 43, Nancy Mendelsohn, 44, Malgorzata J, M Nowaczyk 45, June Ortenberg, 15, Karin Panzer, 46, John, G Pappas 47, Mary Ella Pierpont, 48, Giulio Piluso, 22, Valentina Pinna, 49, Eniko, K Pivnick 50, Dinel, A Pond 44, Cynthia, M Powell 51, Caleb Rogers, 36, Noa Ruhrman Shahar, 25, S Lane Rutledge, 1, Veronica Saletti, 19, Sarah, A Sandaradura 52, Claudia Santoro, 53, Ulrich, A Schatz 21, Allison Schreiber, 54, Daryl, A Scott 38, Elizabeth, A Sellars 4, Ruth Sheffer, 55, Elizabeth Siqveland, 44, John, M Slopis 56, Rosemarie Smith, 57, Alberto Spalice, 58, David, W Stockton 14, Haley Streff, 38, Amy Theos, 59, Gail, E Tomlinson 60, Grace Tran, 61, Pamela, L Trapane 62, Eva Trevisson, 12, Nicole, J Ullrich 63, Jenneke Van den Ende, 64, Samantha, A Schrier Vergano 65, Stephanie, E Wallace 9, Michael, F Wangler 38, David, D Weaver 32, Kaleb, H Yohay 66, Elaine Zackai, 42, Jonathan Zonana, 36

مصطلحات موضوعية: NF1, genotype-phenotype correlation, p.Arg1276, p.Lys1423, p.Met1149

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31595648; info:eu-repo/semantics/altIdentifier/wos/WOS:000492598500001; volume:41; issue:1; firstpage:299; lastpage:315; numberofpages:17; journal:HUMAN MUTATION; https://hdl.handle.net/11573/1666081Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074609550

الإتاحة: https://doi.org/10.1002/humu.23929Test
https://hdl.handle.net/11573/1666081Test

المؤلفون: Elisabete Hernández-Imaz, Yolanda Martín, Laura de Conti, German Melean, Ana Valero, Marco Baralle, Concepción Hernández-Chico

المصدر: PLoS ONE, Vol 10, Iss 10, p e0141735 (2015)

مصطلحات موضوعية: Medicine, Science

العلاقة: http://europepmc.org/articles/PMC4624989?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/373da97e267b44e8ad0a322324520b57Test

الإتاحة: https://doi.org/10.1371/journal.pone.0141735Test
https://doaj.org/article/373da97e267b44e8ad0a322324520b57Test

المؤلفون: María-Isabel Tejada, Guillermo Glover, Francisco Martínez, Miriam Guitart, Yolanda de Diego-Otero, Isabel Fernández-Carvajal, Feliciano J. Ramos, Concepción Hernández-Chico, Elizabet Pintado, Jordi Rosell, María-Teresa Calvo, Carmen Ayuso, María-Antonia Ramos-Arroyo, Hiart Maortua, Montserrat Milà

المصدر: BioMed Research International, Vol 2014 (2014)

مصطلحات موضوعية: Medicine

العلاقة: http://dx.doi.org/10.1155/2014/195793Test; https://doaj.org/toc/2314-6133Test; https://doaj.org/toc/2314-6141Test; https://doaj.org/article/f93d7f6dd5ab428980523e5a270c9b22Test

الإتاحة: https://doi.org/10.1155/2014/195793Test
https://doaj.org/article/f93d7f6dd5ab428980523e5a270c9b22Test