المؤلفون: Capri, Yline, Flex, Elisabetta, Krumbach, Oliver HF, Carpentieri, Giovanna, Cecchetti, Serena, Lißewski, Christina, Rezaei Adariani, Soheila, Schanze, Denny, Brinkmann, Julia, Piard, Juliette, Pantaleoni, Francesca, Lepri, Francesca R, Goh, Elaine Suk-Ying, Chong, Karen, Stieglitz, Elliot, Meyer, Julia, Kuechler, Alma, Bramswig, Nuria C, Sacharow, Stephanie, Strullu, Marion, Vial, Yoann, Vignal, Cédric, Kensah, George, Cuturilo, Goran, Kazemein Jasemi, Neda S, Dvorsky, Radovan, Monaghan, Kristin G, Vincent, Lisa M, Cavé, Hélène, Verloes, Alain, Ahmadian, Mohammad R, Tartaglia, Marco, Zenker, Martin

المصدر: American Journal of Human Genetics. 104(6)

مصطلحات موضوعية: Biochemistry and Cell Biology, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Biological Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Brain Disorders, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Adult, Child, Female, Gain of Function Mutation, Genetic Association Studies, Guanosine Triphosphate, HEK293 Cells, Humans, Infant, Infant, Newborn, Male, Membrane Proteins, Monomeric GTP-Binding Proteins, Noonan Syndrome, Pedigree, Protein Conformation, MAPK, Noonan syndrome, RAS, RASopathies, RRAS2, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/23r6955gTest

المؤلفون: Motta, Marialetizia, Solman, Maja, Bonnard, Adeline A., Kuechler, Alma, Pantaleoni, Francesca, Priolo, Manuela, Chandramouli, Balasubramanian, Coppola, Simona, Pizzi, Simone, Zara, Erika, Ferilli, Marco, Kayserili, Hülya, Onesimo, Roberta, Leoni, Chiara, Brinkmann, Julia, Vial, Yoann, Kamphausen, Susanne B., Thomas-Teinturier, Cécile, Guimier, Anne, Cordeddu, Viviana, Mazzanti, Laura, Zampino, Giuseppe, Chillemi, Giovanni, Zenker, Martin, Cavé, Hélène, den Hertog, Jeroen, Tartaglia, Marco

المساهمون: Hubrecht Institute with UMC

مصطلحات موضوعية: Molecular Biology, Genetics, Genetics(clinical)

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/447773Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/447773Test

المؤلفون: Fasano, Giulia, Muto, Valentina, Radio, Francesca Clementina, Venditti, Martina, Mosaddeghzadeh, Niloufar, Coppola, Simona, Paradisi, Graziamaria, Zara, Erika, Bazgir, Farhad, Ziegler, Alban, Chillemi, Giovanni, Bertuccini, Lucia, Tinari, Antonella, Vetro, Annalisa, Pantaleoni, Francesca, Pizzi, Simone, Conti, Libenzio Adrian, Petrini, Stefania, Bruselles, Alessandro, Prandi, Ingrid Guarnetti, Mancini, Cecilia, Chandramouli, Balasubramanian, Barth, Magalie, Bris, Céline, Milani, Donatella, Selicorni, Angelo, Macchiaiolo, Marina, Gonfiantini, Michaela V., Bartuli, Andrea, Mariani, Riccardo, Curry, Cynthia J., Guerrini, Renzo, Slavotinek, Anne, Iascone, Maria, Dallapiccola, Bruno, Ahmadian, Mohammad Reza, Lauri, Antonella, Tartaglia, Marco

المصدر: Nature Communications ; volume 13, issue 1 ; ISSN 2041-1723

مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41467-022-34354-xTest
https://www.nature.com/articles/s41467-022-34354-x.pdfTest
https://www.nature.com/articles/s41467-022-34354-xTest

المؤلفون: Motta, Marialetizia, Solman, Maja, Bonnard, Adeline A, Kuechler, Alma, Pantaleoni, Francesca, Priolo, Manuela, Chandramouli, Balasubramanian, Coppola, Simona, Pizzi, Simone, Zara, Erika, Ferilli, Marco, Kayserili, Hülya, Onesimo, Roberta, Leoni, Chiara, Brinkmann, Julia, Vial, Yoann, Kamphausen, Susanne B, Thomas-Teinturier, Cécile, Guimier, Anne, Cordeddu, Viviana, Mazzanti, Laura, Zampino, Giuseppe, Chillemi, Giovanni, Zenker, Martin, Cavé, Hélène, den Hertog, Jeroen, Tartaglia, Marco

المساهمون: European Joint Program on Rare Diseases, Associazione Italiana per la Ricerca sul Cancro, Italian Ministry of Health, Italian Ministry of Research, German Federal Ministry of Education and Research, European Reference Network on Rare Congenital Malformations, Rare Intellectual Disability

المصدر: Human Molecular Genetics ; volume 31, issue 16, page 2766-2778 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1093/hmg/ddac071Test
https://academic.oup.com/hmg/article-pdf/31/16/2766/45499323/ddac071.pdfTest

المؤلفون: Chiriaco, Maria, Ursu, Giorgiana Madalina, Amodio, Donato, Cotugno, Nicola, Volpi, Stefano, Berardinelli, Francesco, Pizzi, Simone, Cifaldi, Cristina, Zoccolillo, Matteo, Prigione, Ignazia, Di Cesare, Silvia, Giancotta, Carmela, Anastasio, Elisa, Rivalta, Beatrice, Pacillo, Lucia, Zangari, Paola, Fiocchi, Alessandro G., Diociaiuti, Andrea, Bruselles, Alessandro, Pantaleoni, Francesca, Ciolfi, Andrea, D’Oria, Valentina, Palumbo, Giuseppe, Gattorno, Marco, El Hachem, Maya, de Villartay, Jean-Pierre, Finocchi, Andrea, Palma, Paolo, Rossi, Paolo, Tartaglia, Marco, Aiuti, Alessandro, Antoccia, Antonio, Di Matteo, Gigliola, Cancrini, Caterina

المصدر: Frontiers in Immunology ; volume 13 ; ISSN 1664-3224

الإتاحة: https://doi.org/10.3389/fimmu.2022.919237Test

المؤلفون: Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, Dentici, Maria Lisa, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Sanchez-Lara, Pedro A., Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Cross, Laura, Zhou, Dihong, Hartley, Taila, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Macke, Erica L., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo

المصدر: Radio , F C , Pang , K , Ciolfi , A , Levy , M A , Hernández-García , A , Pedace , L , Pantaleoni , F , Liu , Z , de Boer , E , Jackson , A , Bruselles , A , McConkey , H , Stellacci , E , Lo Cicero , S , Motta , M , Carrozzo , R , Dentici , M L , McWalter , K , Desai , M , Monaghan , K G , Telegrafi , A , Philippe , C , Vitobello , A , Au ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.015Test
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184Test
https://pure.eur.nl/ws/files/53889029/SPEN_haploinsufficiency_causes_a_neurodevelopmental_disorder_overlapping_proximal_1p36_deletion_syndrome_with_an_episignature_of_X_chromosomes_in_females.pdfTest
http://www.scopus.com/inward/record.url?scp=85101770406&partnerID=8YFLogxKTest

المؤلفون: Brinkmann, Julia, Lißewski, Christina, Pinna, Valentina, Vial, Yoann, Pantaleoni, Francesca, Lepri, Francesca, Daniele, Paola, Burnyte, Birute, Cuturilo, Goran, Fauth, Christine, Gezdirici, Alper, Kotzot, Dieter, Güleç, Elif Yılmaz, Iotova, Violeta, Schanze, Denny, Ramond, Francis, Havlovicová, Markéta, Utine, Gulen Eda, Simsek-Kiper, Pelin Ozlem, Stoyanova, Milena, Verloes, Alain, Luca, Alessandro, Tartaglia, Marco, Cavé, Hélène, Zenker, Martin

مصطلحات موضوعية: ddc:610, Noonan syndrome, Clinical significance, RASopathies

وصف الملف: application/pdf

العلاقة: https://www.nature.com/ejhgTest/; http://dx.doi.org/10.25673/85161Test; https://opendata.uni-halle.de//handle/1981185920/87113Test; urn:nbn:de:gbv:ma9:1-1981185920-871135

الإتاحة: https://doi.org/10.25673/85161Test
https://opendata.uni-halle.de//handle/1981185920/87113Test
https://nbn-resolving.org/urn:nbn:de:gbv:ma9:1-1981185920-871135Test

المؤلفون: Vial, Yoann, Lissewski, Christina, Brinkmann, Julia, ÜTİNE, GÜLEN EDA, ŞİMŞEK KİPER, PELİN ÖZLEM, Zenker, Martin, Cave, Helene, Tartaglia, Marco, De Luca, Alessandro, Verloes, Alain, Stoyanova, Milena, Havlovicova, Marketa, Ramond, Francis, Schanze, Denny, Iotova, Violeta, Gulec, Elif Yilmaz, Kotzot, Dieter, Gezdirici, Alper, Fauth, Christine, Cuturilo, Goran, Burnyte, Birute, Daniele, Paola, Lepri, Francesca, Pantaleoni, Francesca, Pinna, Valentina

العلاقة: a813543a-7910-4edb-8dcf-2baa9e471007; https://avesis.hacettepe.edu.tr/publication/details/a813543a-7910-4edb-8dcf-2baa9e471007/oaiTest

الإتاحة: https://doi.org/10.1038/s41431-020-00743-3Test
https://avesis.hacettepe.edu.tr/publication/details/a813543a-7910-4edb-8dcf-2baa9e471007/oaiTest

المؤلفون: Brinkmann, Julia, Gulec, Elif Yilmaz, Gredy, Sina, ÜTİNE, GÜLEN EDA, ŞİMŞEK KİPER, PELİN ÖZLEM, Tartaglia, Marco, Zenker, Martin, Cave, Helene, Schuh, Kai, Chillemi, Giovanni, Lauri, Antonella, Dallapiccola, Bruno, Gelb, Bruce D., Ben Becher, Saayda, De Luca, Alessandro, Rossi, Cesare, Gritli, Sami, Vissers, Lisenka E. L. M., de Boer, Elke, Ullrich, Melanie, Hepbasli, Denis, Vignal, Cedric, Consoli, Federica, Petrini, Stefania, Ciolfi, Andrea, Radio, Francesca Clementina, Pantaleoni, Francesca, Motta, Marialetizia, Fasano, Giulia, Venditti, Martina, Prandi, Ingrid Guarnetti, Essaddam, Leila, Bonnard, Adeline Alice

العلاقة: 92d8d800-2929-4b9b-8ee3-b94c36165448; https://avesis.hacettepe.edu.tr/publication/details/92d8d800-2929-4b9b-8ee3-b94c36165448/oaiTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.09.007Test
https://avesis.hacettepe.edu.tr/publication/details/92d8d800-2929-4b9b-8ee3-b94c36165448/oaiTest

المؤلفون: Scott, Alexandra, Di Giosaffatte, Niccolò, Pinna, Valentina, Daniele, Paola, Corno, Sara, D’Ambrosio, Valentina, Andreucci, Elena, Marozza, Annabella, Sirchia, Fabio, Tortora, Giada, Mangiameli, Daniela, Di Marco, Chiara, Romagnoli, Maria, Donati, Ilaria, Zonta, Andrea, Grosso, Enrico, Naretto, Valeria Giorgia, Mastromoro, Gioia, Versacci, Paolo, Pantaleoni, Francesca, Radio, Francesca Clementina, Mazza, Tommaso, Damante, Giuseppe, Papi, Laura, Mattina, Teresa, Giancotti, Antonella, Pizzuti, Antonio, Laberge, Anne-Marie, Tartaglia, Marco, Delrue, Marie-Ange, De Luca, Alessandro

المساهمون: American International Recruitment Council

المصدر: Genetics in Medicine ; volume 23, issue 6, page 1116-1124 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-020-01093-7Test
https://www.nature.com/articles/s41436-020-01093-7.pdfTest
https://www.nature.com/articles/s41436-020-01093-7Test
https://api.elsevier.com/content/article/PII:S1098360021052072?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021052072?httpAccept=text/plainTest