المؤلفون: Gorrieri, Giulia, Tamburro, Serena, Baldassari, Simona, Guerrisi, Sara, Zara, Federico, Ricci, Emilia, Cordelli, Duccio Maria, Scudieri, Paolo, Musante, Ilaria

المساهمون: G. Gorrieri, S. Tamburro, S. Baldassari, S. Guerrisi, F. Zara, E. Ricci, D.M. Cordelli, P. Scudieri, I. Musante

مصطلحات موضوعية: Settore MED/39 - Neuropsichiatria Infantile, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38350246; volume:76; firstpage:1; lastpage:5; numberofpages:5; journal:STEM CELL RESEARCH; https://hdl.handle.net/2434/1036288Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85185841117

الإتاحة: https://doi.org/10.1016/j.scr.2024.103333Test
https://hdl.handle.net/2434/1036288Test

المؤلفون: Iacomino, Michele, Houerbi, Nadia, Fortuna, Sara, Howe, Jennifer, Li, Shan, Scorrano, Giovanna, Riva, Antonella, Cheng, Kai-Wen, Steiman, Mandy, Peltekova, Iskra, Yusuf, Afiqah, Baldassari, Simona, Tamburro, Serena, Scudieri, Paolo, Musante, Ilaria, Di Ludovico, Armando, Guerrisi, Sara, Balagura, Ganna

المساهمون: Ministero della Salute

المصدر: Frontiers in Molecular Neuroscience ; volume 17 ; ISSN 1662-5099

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Molecular Biology

الإتاحة: https://doi.org/10.3389/fnmol.2024.1268013Test

المؤلفون: Accogli, Andrea, Park, Young N., Lenk, Guy M., Severino, Mariasavina, Scala, Marcello, Denecke, Jonas, Hempel, Maja, Lessel, Davor, Kortüm, Fanny, Salpietro, Vincenzo, de Marco, Patrizia, Guerrisi, Sara, Torella, Annalaura, Nigro, Vincenzo, Srour, Myriam, Turro, Ernest, Labarque, Veerle, Freson, Kathleen, Piatelli, Gianluca, Capra, Valeria, Kitzman, Jacob O., Meisler, Miriam H.

المساهمون: National Institute of General Medical Sciences

المصدر: Genetics in Medicine ; volume 26, issue 5, page 101097 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2024.101097Test
https://api.elsevier.com/content/article/PII:S1098360024000303?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360024000303?httpAccept=text/plainTest

المؤلفون: Cuccurullo, Claudia, Miele, Giuseppina, Piccolo, Gianluca, Bilo, Leonilda, Accogli, Andrea, D'Amico, Alessandra, Fratta, Mario, Guerrisi, Sara, Iacomino, Michele, Salpietro, Vincenzo, Ugga, Lorenzo, Striano, Pasquale, Coppola, Antonietta

المساهمون: Cuccurullo, Claudia, Miele, Giuseppina, Piccolo, Gianluca, Bilo, Leonilda, Accogli, Andrea, D'Amico, Alessandra, Fratta, Mario, Guerrisi, Sara, Iacomino, Michele, Salpietro, Vincenzo, Ugga, Lorenzo, Striano, Pasquale, Coppola, Antonietta

مصطلحات موضوعية: CENPJ, Epilepsy, Hydranencephaly, Seckel syndrome

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000902040600001; volume:65; issue:12; firstpage:104659; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11588/952676Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85141788576

الإتاحة: https://doi.org/10.1016/j.ejmg.2022.104659Test
https://hdl.handle.net/11588/952676Test

المؤلفون: Romano, Ferruccio, Madia, Francesca, De Marco, Patrizia, Ognibene, Marzia, Guerrisi, Sara, Scala, Marcello, Iacomino, Michele, Baldassari, Simona, Vercellino, Nadia, Manunza, Francesca, Tallone, Ramona, Pavanello, Marco, Piatelli, Gianluca, Garaventa, Alberto, Zara, Federico, Capra, Valeria

المساهمون: Romano, Ferruccio, Madia, Francesca, De Marco, Patrizia, Ognibene, Marzia, Guerrisi, Sara, Scala, Marcello, Iacomino, Michele, Baldassari, Simona, Vercellino, Nadia, Manunza, Francesca, Tallone, Ramona, Pavanello, Marco, Piatelli, Gianluca, Garaventa, Alberto, Zara, Federico, Capra, Valeria

مصطلحات موضوعية: MTOR, PIK3CA, genetic mosaicism, genotype-phenotype correlation, segmental overgrowth, somatic mutations

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36345927; info:eu-repo/semantics/altIdentifier/wos/WOS:000879756300001; volume:114; firstpage:1440; lastpage:1448; numberofpages:9; journal:BIRTH DEFECTS RESEARCH; https://hdl.handle.net/11567/1119397Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85141571176

الإتاحة: https://doi.org/10.1002/bdr2.2113Test
https://hdl.handle.net/11567/1119397Test

المؤلفون: Chelleri, Cristina, Scala, Marcello, De Marco, Patrizia, Guerriero, Vittorio, Ognibene, Marzia, Madia, Francesca, Guerrisi, Sara, Di Duca, Marco, Torre, Michele, Tamburro, Serena, Scudieri, Paolo, Piccolo, Gianluca, Mattioli, Girolamo, Buffelli, Francesca, Uva, Paolo, Vozzi, Diego, Fulcheri, Ezio, Striano, Pasquale, Diana, Maria Cristina, Zara, Federico

المصدر: Human Mutation; 4/28/2023, p1-7, 7p

المؤلفون: Ognibene, Marzia, Scala, Marcello, Iacomino, Michele, Schiavetti, Irene, Madia, Francesca, Traverso, Monica, Guerrisi, Sara, Di Duca, Marco, Caroli, Francesco, Baldassari, Simona, Tappino, Barbara, Romano, Ferruccio, Uva, Paolo, Vozzi, Diego, Chelleri, Cristina, Piatelli, Gianluca, Diana, Maria Cristina, Zara, Federico, Capra, Valeria, Pavanello, Marco

المصدر: Cancers; Mar2023, Vol. 15 Issue 6, p1916, 17p

مصطلحات موضوعية: SEQUENCE analysis, GENETIC mutation, MOYAMOYA disease, GENOMICS, GENE expression profiling, RESEARCH funding, NEUROFIBROMATOSIS 1, TRANSCRIPTION factors, PHENOTYPES, DISEASE complications, CHILDREN

المؤلفون: Accogli, Andrea, Park, Young N., Lenk, Guy M., Severino, Mariasavina, Scala, Marcello, Denecke, Jonas, Hempel, Maja, Lessel, Davor, Kortüm, Fanny, Salpietro, Vincenzo, de Marco, Patrizia, Guerrisi, Sara, Torella, Annalaura, Nigro, Vincenzo, Srour, Myriam, Turro, Ernest, Labarque, Veerle, Freson, Kathleen, Piatelli, Gianluca, Capra, Valeria, Kitzman, Jacob O., Meisler, Miriam H.

المصدر: Genetics in Medicine; May 2024, Vol. 26 Issue: 5

المؤلفون: Marzia Ognibene, Marcello Scala, Michele Iacomino, Irene Schiavetti, Francesca Madia, Monica Traverso, Sara Guerrisi, Marco Di Duca, Francesco Caroli, Simona BALDASSARI, Barbara Tappino, Ferruccio Romano, Paolo Uva, Diego Vozzi, Cristina Chelleri, Gianluca Piatelli, Maria Cristina Diana, Federico Zara, Valeria Capra, Marco PAVANELLO, Patrizia De Marco

المساهمون: Ognibene, Marzia, Scala, Marcello, Iacomino, Michele, Schiavetti, Irene, Madia, Francesca, Traverso, Monica, Guerrisi, Sara, Di Duca, Marco, Caroli, Francesco, Baldassari, Simona, Tappino, Barbara, Romano, Ferruccio, Uva, Paolo, Vozzi, Diego, Chelleri, Cristina, Piatelli, Gianluca, Cristina Diana, Maria, Zara, Federico, Capra, Valeria, Pavanello, Marco, DE MARCO, Patrizia

مصطلحات موضوعية: Moyamoya, NF1, RNF213, neurofibromatosis type 1, next-generation sequencing (NGS)

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36980803; info:eu-repo/semantics/altIdentifier/wos/WOS:000957815800001; volume:15; firstpage:1916; lastpage:1933; numberofpages:18; journal:CANCERS; https://hdl.handle.net/11567/1119253Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85151433658

الإتاحة: https://doi.org/10.3390/cancers15061916Test
https://hdl.handle.net/11567/1119253Test