المؤلفون: Romano, Carmela, Morena, Emanuele, Petrucci, Simona, Diamant, Selene, Marconi, Martina, Travaglini, Lorena, Zanni, Ginevra, Piane, Maria, Salvetti, Marco, Romano, Silvia, Ristori, Giovanni

المصدر: Frontiers in Neurology ; volume 15 ; ISSN 1664-2295

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.3389/fneur.2024.1362013Test

المؤلفون: Caputi, Caterina, Federici, Giulia, Soddu, Silvia, Travaglini, Lorena, Piane, Maria, Bertini, Enrico, Zanni, Ginevra, Leuzzi, Vincenzo

المساهمون: Caputi, Caterina, Federici, Giulia, Soddu, Silvia, Travaglini, Lorena, Piane, Maria, Bertini, Enrico, Zanni, Ginevra, Leuzzi, Vincenzo

مصطلحات موضوعية: functional studie, kinase activity, mild phenotype, p53‐MCL, variant ataxia‐telangiectasia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36704080; info:eu-repo/semantics/altIdentifier/wos/WOS:000895976100001; volume:10; issue:1; firstpage:124; lastpage:129; numberofpages:6; journal:MOVEMENT DISORDERS CLINICAL PRACTICE; https://hdl.handle.net/11573/1674104Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85144088991

الإتاحة: https://doi.org/10.1002/mdc3.13618Test
https://hdl.handle.net/11573/1674104Test

المؤلفون: Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K, Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J, Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S, Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D Gareth R, Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B, González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N A, Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E, Rosseel, Toon, Ruddy, Kathryn J, Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E, Trentham-Dietz, Amy, Vachon, Celine M, Volk, Alexander E, Weber-Lassalle, Nana, Weitzel, Jeffrey N, Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B, Vega, Ana, Rossing, Maria, Del Valle, Jesús, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B M, Ngeow, Joanne, Momozawa, Yukihide, James, Paul A, Couch, Fergus J, Macurek, Libor, Kleibl, Zdenek

المساهمون: Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K, Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J, Boddicker, Nichola, Brunet, Joan, Burnside, Elizabeth S, Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, Depersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D Gareth R, Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B, González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, Jame, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, Jame, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, Mcinerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N A, Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E, Rosseel, Toon, Ruddy, Kathryn J, Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E, Trentham-Dietz, Amy, Vachon, Celine M, Volk, Alexander E, Weber-Lassalle, Nana, Weitzel, Jeffrey N, Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakouli, Yao, Song, Zampiga, Valentina, Zethoven, Magnu, Zhang, Ze Wen, Zima, Toma, Spurdle, Amanda B, Vega, Ana, Rossing, Maria

مصطلحات موضوعية: chek2, breast cancer, germline missense variants

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37449874; info:eu-repo/semantics/altIdentifier/wos/WOS:001053492300001; volume:29; issue:16; firstpage:1; lastpage:14; numberofpages:14; journal:CLINICAL CANCER RESEARCH; https://hdl.handle.net/11573/1685106Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85168222787

الإتاحة: https://doi.org/10.1158/1078-0432.CCR-23-0212Test
https://hdl.handle.net/11573/1685106Test

المؤلفون: Mistrulli, Raffaella, Micolonghi, Caterina, Follesa, Federico, Fabiani, Marco, Pagannone, Erika, D'Amati, Giulia, Giordano, Carla, Caroselli, Silvia, Savio, Camilla, Germani, Aldo, Pizzuti, Antonio, Visco, Vincenzo, Petrucci, Simona, Rubattu, Speranza, Piane, Maria, Autore, Camillo

المساهمون: Mistrulli, Raffaella, Micolonghi, Caterina, Follesa, Federico, Fabiani, Marco, Pagannone, Erika, D'Amati, Giulia, Giordano, Carla, Caroselli, Silvia, Savio, Camilla, Germani, Aldo, Pizzuti, Antonio, Visco, Vincenzo, Petrucci, Simona, Rubattu, Speranza, Piane, Maria, Autore, Camillo

مصطلحات موضوعية: arrhythmogenic cardiomyopathy, acute myocarditi, biopsy, genetic, PKP2

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37662494; info:eu-repo/semantics/altIdentifier/wos/WOS:001065774500001; volume:37; numberofpages:6; journal:MOLECULAR GENETICS AND METABOLISM REPORTS; https://hdl.handle.net/11573/1686369Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85168439248

الإتاحة: https://doi.org/10.1016/j.ymgmr.2023.101000Test
https://hdl.handle.net/11573/1686369Test

المؤلفون: Faggiano, Antongiulio, Fazzalari, Beatrice, Mikovic, Nevena, Russo, Flaminia, Zamponi, Virginia, Mazzilli, Rossella, Guarnieri, Vito, Piane, Maria, Visco, Vincenzo, Petrucci, Simona

المساهمون: Faggiano, Antongiulio, Fazzalari, Beatrice, Mikovic, Nevena, Russo, Flaminia, Zamponi, Virginia, Mazzilli, Rossella, Guarnieri, Vito, Piane, Maria, Visco, Vincenzo, Petrucci, Simona

مصطلحات موضوعية: multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 4, neuroendocrine tumor, predictive factor, genetic test, phenocopies

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37761922; info:eu-repo/semantics/altIdentifier/wos/WOS:001074672100001; volume:14; issue:9; firstpage:1; lastpage:10; numberofpages:10; journal:GENES; https://hdl.handle.net/11573/1688337Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85172805573

الإتاحة: https://doi.org/10.3390/genes14091782Test
https://hdl.handle.net/11573/1688337Test

المؤلفون: Cava, Francesco, Micolonghi, Caterina, Musumeci, Maria Beatrice, Petrucci, Simona, Savio, Camilla, Fabiani, Marco, Tini, Giacomo, Germani, Aldo, Libi, Fabio, Rossi, Carla, Visco, Vincenzo, Pizzuti, Antonio, Volpe, Massimo, Autore, Camillo, Rubattu, Speranza, Piane, Maria

المساهمون: Cava, Francesco, Micolonghi, Caterina, Musumeci, Maria Beatrice, Petrucci, Simona, Savio, Camilla, Fabiani, Marco, Tini, Giacomo, Germani, Aldo, Libi, Fabio, Rossi, Carla, Visco, Vincenzo, Pizzuti, Antonio, Volpe, Massimo, Autore, Camillo, Rubattu, Speranza, Piane, Maria

مصطلحات موضوعية: lqt, qtc, qtc abnormalitie, gene muatation, hypertrophic cardiomyopathy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37089884; info:eu-repo/semantics/altIdentifier/wos/WOS:000970020400001; volume:10; firstpage:1; lastpage:4; numberofpages:4; journal:FRONTIERS IN CARDIOVASCULAR MEDICINE; https://hdl.handle.net/11573/1678459Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85153526285

الإتاحة: https://doi.org/10.3389/fcvm.2023.1112759Test
https://hdl.handle.net/11573/1678459Test

المؤلفون: Mastromoro, Gioia, Guadagnolo, Daniele, Novelli, Antonio, Torres, Barbara, Piane, Maria, Magliozzi, Monia, Bernardini, Laura, Ventriglia, Flavia, Pizzuti, Antonio, Petrucci, Simona

المصدر: The Journal of Maternal-Fetal & Neonatal Medicine ; volume 36, issue 1 ; ISSN 1476-7058 1476-4954

الإتاحة: https://doi.org/10.1080/14767058.2023.2201653Test

المؤلفون: Petraroli, Maddalena, Percesepe, Antonio, Piane, Maria, Ormitti, Francesca, Castellone, Eleonora, Gnocchi, Margherita, Messina, Giulia, Bernardi, Luca, Patianna, Viviana Dora, Esposito, Susanna Maria Roberta, Street, Maria Elisabeth

المصدر: Frontiers in Endocrinology ; volume 14 ; ISSN 1664-2392

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.3389/fendo.2023.1018441Test

المؤلفون: Germani, Aldo, Guadagnolo, Daniele, Salvati, Valentina, Micolonghi, Caterina, Mancini, Rita, Mastromoro, Gioia, Sadeghi, Soha, Petrucci, Simona, Pizzuti, Antonio, Piane, Maria

المساهمون: Germani, Aldo, Guadagnolo, Daniele, Salvati, Valentina, Micolonghi, Caterina, Mancini, Rita, Mastromoro, Gioia, Sadeghi, Soha, Petrucci, Simona, Pizzuti, Antonio, Piane, Maria

مصطلحات موضوعية: chek2, hereditary breast cancer, intragenic duplication, large rearrangement

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35885426; info:eu-repo/semantics/altIdentifier/wos/WOS:000832165800001; volume:12; issue:7; firstpage:1; lastpage:13; numberofpages:13; journal:DIAGNOSTICS; http://hdl.handle.net/11573/1649089Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133166200

الإتاحة: https://doi.org/10.3390/diagnostics12071520Test
http://hdl.handle.net/11573/1649089Test

المؤلفون: Micolonghi, Caterina, Piane, Maria, Germani, Aldo, Sadeghi, Soha, Libi, Fabio, Savio, Camilla, Fabiani, Marco, Mancini, Rita, Ranieri, Danilo, Pizzuti, Antonio, Corleto, Vito Domenico, Parisi, Pasquale, Visco, Vincenzo, Di Nardo, Giovanni, Petrucci, Simona

المساهمون: Micolonghi, Caterina, Piane, Maria, Germani, Aldo, Sadeghi, Soha, Libi, Fabio, Savio, Camilla, Fabiani, Marco, Mancini, Rita, Ranieri, Danilo, Pizzuti, Antonio, Corleto, Vito Domenico, Parisi, Pasquale, Visco, Vincenzo, Di Nardo, Giovanni, Petrucci, Simona

مصطلحات موضوعية: juvenile polyposis syndrome, smad4, splice site variant

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36359527; info:eu-repo/semantics/altIdentifier/wos/WOS:000880902600001; volume:12; issue:11; firstpage:1; lastpage:8; numberofpages:8; journal:DIAGNOSTICS; https://hdl.handle.net/11573/1659060Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85141701474

الإتاحة: https://doi.org/10.3390/diagnostics12112684Test
https://hdl.handle.net/11573/1659060Test