المؤلفون: Bestetti, Ilaria, Crippa, Milena, Sironi, Alessandra, Bellini, Matteo, Tumiatti, Francesca, Ballabio, Sara, Ceriotti, Ferruccio, Memo, Luigi, Iascone, Maria, Larizza, Lidia, Finelli, Palma

المصدر: Frontiers in Genetics ; volume 15 ; ISSN 1664-8021

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

الإتاحة: https://doi.org/10.3389/fgene.2024.1358334Test

المؤلفون: Grati, Francesca Romana, Bestetti, Ilaria, De Siero, Daria, Malvestiti, Francesca, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Parisi, Valentina, Nardone, Anna Maria, Di Giacomo, Gianluca, Pettinari, Antonella, Tortora, Giada, Montaldi, Annamaria, Calò, Annapaola, Saccilotto, Donatella, Zanchetti, Sara, Celli, Paola, Guerneri, Silvana, Silipigni, Rosamaria, Cardarelli, Laura, Lippi, Elisabetta, Cavani, Simona, Malacarne, Michela, Genesio, Rita, Beltrami, Nicola, Pittalis, Maria Carla, Desiderio, Laura, Gentile, Mattia, Ficarella, Romina, Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Miele, Lorena, Corti, Cecilia, Ghezzo, Sara, Bertini, Veronica, Cambi, Francesca, Valetto, Angelo, Facchinetti, Barbara, Bernardini, Laura, Capalbo, Anna, Balducci, Federica, Pelo, Elisabetta, Minuti, Barbara, Pescucci, Chiara, Giuliani, Costanza, Renieri, Alessandra, Longo, Ilaria, Tita, Rossella, Castello, Giuseppe, Casalone, Rosario, Righi, Rossana, Raso, Barbara, Civolani, Alessandro, Muzi, Maria Cristina, di Natale, Manuela, Varriale, Luigia, Gasperini, Daniela, Nuzzi, Maria Cristina, Cellamare, Angelo, Casieri, Paola, Busuito, Rosa, Ceccarini, Caterina, Cesarano, Carla, Privitera, Orsola, Melani, Daniela, Menozzi, Cristina, Falcinelli, Cristina, Calabrese, Olga, Battaglia, Paola, Tanzariello, Antonella, Stampalija, Tamara, Ardisia, Carmela, Gasparini, Paolo, Benn, Peter, Novelli, Antonio

المساهمون: Grati, Francesca Romana, Bestetti, Ilaria, De Siero, Daria, Malvestiti, Francesca, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Parisi, Valentina, Nardone, Anna Maria, Di Giacomo, Gianluca, Pettinari, Antonella, Tortora, Giada, Montaldi, Annamaria, Calò, Annapaola, Saccilotto, Donatella, Zanchetti, Sara, Celli, Paola, Guerneri, Silvana, Silipigni, Rosamaria, Cardarelli, Laura, Lippi, Elisabetta, Cavani, Simona, Malacarne, Michela, Genesio, Rita, Beltrami, Nicola, Pittalis, Maria Carla, Desiderio, Laura, Gentile, Mattia, Ficarella, Romina, Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Miele, Lorena, Corti, Cecilia, Ghezzo, Sara, Bertini, Veronica, Cambi, Francesca, Valetto, Angelo, Facchinetti, Barbara, Bernardini, Laura, Capalbo, Anna, Balducci, Federica, Pelo, Elisabetta, Minuti, Barbara, Pescucci, Chiara, Giuliani, Costanza, Renieri, Alessandra, Longo, Ilaria, Tita, Rossella, Castello, Giuseppe, Casalone, Rosario, Righi, Rossana, Raso, Barbara, Civolani, Alessandro, Muzi, Maria Cristina, di Natale, Manuela, Varriale, Luigia, Gasperini, Daniela, Nuzzi, Maria Cristina, Cellamare, Angelo, Casieri, Paola, Busuito, Rosa, Ceccarini, Caterina, Cesarano, Carla, Privitera, Orsola, Melani, Daniela, Menozzi, Cristina, Falcinelli, Cristina, Calabrese, Olga, Battaglia, Paola, Tanzariello, Antonella, Stampalija, Tamara, Ardisia, Carmela, Gasparini, Paolo, Benn, Peter, Novelli, Antonio

مصطلحات موضوعية: cfDNAtesting

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36403097; info:eu-repo/semantics/altIdentifier/wos/WOS:000893020800001; volume:42; issue:13; firstpage:1575; lastpage:1586; numberofpages:12; journal:PRENATAL DIAGNOSIS; https://hdl.handle.net/11368/3035240Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85143216435

الإتاحة: https://doi.org/10.1002/pd.6271Test
https://hdl.handle.net/11368/3035240Test

المؤلفون: Bestetti, Ilaria, Crippa, Milena, Sironi, Alessandra, Tumiatti, Francesca, Masciadri, Maura, Smeland, Marie Falkenberg, Naik, Swati, Murch, Oliver, Bonati, Maria Teresa, Spano, Alice, Cattaneo, Elisa, Mariani, Milena, Gotta, Fabio, Crosti, Francesca, Cavalli, Pietro, Pantaleoni, Chiara, Natacci, Federica, Bedeschi, Maria Francesca, Milani, Donatella, Maitz, Silvia, Selicorni, Angelo, Spaccini, Luigina, Peron, Angela, Russo, Silvia, Larizza, Lidia, Low, Karen, Finelli, Palma

المصدر: Bestetti , I , Crippa , M , Sironi , A , Tumiatti , F , Masciadri , M , Smeland , M F , Naik , S , Murch , O , Bonati , M T , Spano , A , Cattaneo , E , Mariani , M , Gotta , F , Crosti , F , Cavalli , P , Pantaleoni , C , Natacci , F , Bedeschi , M F , Milani , D , Maitz , S , Selicorni , A , Spaccini , L , Peron , A , Russo , S , ....

مصطلحات موضوعية: ANKRD11 gene expression analysis, ANKRD11 variations, diagnostic flow chart, KBG syndrome

الإتاحة: https://doi.org/10.3390/ijms23115912Test
https://hdl.handle.net/1983/c547977e-17ac-4b4f-a411-2155ab2cd1f2Test
https://research-information.bris.ac.uk/en/publications/c547977e-17ac-4b4f-a411-2155ab2cd1f2Test
http://www.scopus.com/inward/record.url?scp=85130794381&partnerID=8YFLogxKTest

المؤلفون: Sironi, Alessandra, Bestetti, Ilaria, Masciadri, Maura, Tumiatti, Francesca, Crippa, Milena, Pantaleoni, Chiara, Russo, Silvia, D’Arrigo, Stefano, Milani, Donatella, Larizza, Lidia, Finelli, Palma

المصدر: European Journal of Human Genetics ; volume 30, issue 11, page 1233-1238 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-022-01143-5Test
https://www.nature.com/articles/s41431-022-01143-5.pdfTest
https://www.nature.com/articles/s41431-022-01143-5Test

المؤلفون: Fermo, Elisa, Zaninoni, Anna, Vercellati, Cristina, Marcello, Anna Paola, Bestetti, Ilaria, Castronovo, Paola, Fattizzo, Bruno, Barcellini, Wilma, Bianchi, Paola

المصدر: British Journal of Haematology; Nov2023, Vol. 203 Issue 4, p684-687, 4p

مصطلحات موضوعية: SPECTRIN, HEMOLYTIC anemia, ERYTHROCYTES, GENETIC counseling, GENETIC variation

المؤلفون: Rossetti, Raffaella, Ferrari, Ilaria, Bestetti, Ilaria, Moleri, Silvia, Brancati, Francesco, Petrone, Luisa, Finelli, Palma, Persani, Luca

المساهمون: R. Rossetti, I. Ferrari, I. Bestetti, S. Moleri, F. Brancati, L. Petrone, P. Finelli, L. Persani

مصطلحات موضوعية: BMP15, GDF9, Ovarian Dysgenesi, Ovarian folliculogenesi, Primary Ovarian Insufficiency, cumulin, Settore MED/13 - Endocrinologia, Settore BIO/13 - Biologia Applicata

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31957178; info:eu-repo/semantics/altIdentifier/wos/WOS:000511283600001; journal:HUMAN MUTATION; http://hdl.handle.net/2434/706250Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85079049198

الإتاحة: https://doi.org/10.1002/humu.23988Test
http://hdl.handle.net/2434/706250Test

المؤلفون: Crippa, Milena, Bestetti, Ilaria, Maitz, Silvia, Weiss, Karin, Spano, Alice, Masciadri, Maura, Smithson, Sarah, Larizza, Lidia, Low, Karen, Cohen, Lior, Finelli, Palma

المصدر: Crippa , M , Bestetti , I , Maitz , S , Weiss , K , Spano , A , Masciadri , M , Smithson , S , Larizza , L , Low , K , Cohen , L & Finelli , P 2020 , ' SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome ' , Frontiers in Neurology , vol. 11 , 631 . https://doi.org/10.3389/fneur.2020.00631Test

مصطلحات موضوعية: 3p25 microdeletion syndrome, KBG syndrome, MRD23, SETD5 haploinsufficiency, WES

العلاقة: https://research-information.bris.ac.uk/en/publications/86349da2-1858-4a11-a105-a32deaeb6854Test

الإتاحة: https://doi.org/10.3389/fneur.2020.00631Test
https://hdl.handle.net/1983/86349da2-1858-4a11-a105-a32deaeb6854Test
https://research-information.bris.ac.uk/en/publications/86349da2-1858-4a11-a105-a32deaeb6854Test
http://www.scopus.com/inward/record.url?scp=85089220639&partnerID=8YFLogxKTest

المؤلفون: Grati, Francesca Romana, Bestetti, Ilaria, de Siero, Daria, Malvestiti, Francesca, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Parisi, Valentina, Nardone, Anna Maria, Di Giacomo, Gianluca, Pettinari, Antonella, Tortora, Giada, Montaldi, Annamaria, Calò, Annapaola, Saccilotto, Donatella, Zanchetti, Sara, Celli, Paola, Guerneri, Silvana, Silipigni, Rosamaria, Cardarelli, Laura, Lippi, Elisabetta, Cavani, Simona, Malacarne, Michela, Genesio, Rita, Beltrami, Nicola, Pittalis, Maria Carla, Desiderio, Laura, Gentile, Mattia, Ficarella, Romina, Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Miele, Lorena, Corti, Cecilia, Ghezzo, Sara, Bertini, Veronica, Cambi, Francesca, Valetto, Angelo, Facchinetti, Barbara, Bernardini, Laura, Capalbo, Anna, Balducci, Federica, Pelo, Elisabetta, Minuti, Barbara, Pescucci, Chiara, Giuliani, Costanza, Renieri, Alessandra, Longo, Ilaria, Tita, Rossella, Castello, Giuseppe

المصدر: Obstetrical & Gynecological Survey ; volume 78, issue 6, page 318-320 ; ISSN 1533-9866 0029-7828

الإتاحة: https://doi.org/10.1097/01.ogx.0000943148.38377.8cTest

المؤلفون: Crippa, Milena, Bonati, Maria Teresa, Calzari, Luciano, Picinelli, Chiara, Gervasini, Cristina, Sironi, Alessandra, Bestetti, Ilaria, Guzzetti, Sara, Bellone, Simonetta, Selicorni, Angelo, Mussa, Alessandro, Riccio, Andrea, Ferrero, Giovanni Battista, Russo, Silvia, Larizza, Lidia, Finelli, Palma

المساهمون: M. Crippa, M.T. Bonati, L. Calzari, C. Picinelli, C. Gervasini, A. Sironi, I. Bestetti, S. Guzzetti, S. Bellone, A. Selicorni, A. Mussa, A. Riccio, G.B. Ferrero, S. Russo, L. Larizza, P. Finelli

مصطلحات موضوعية: Netchine–Harbison clinical scoring system, Silver–Russell syndrome, array CGH, differential diagnosi, pathogenic CNVs, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31749829; info:eu-repo/semantics/altIdentifier/wos/WOS:000497430200001; volume:10; firstpage:1; lastpage:13; numberofpages:13; journal:FRONTIERS IN GENETICS; http://hdl.handle.net/2434/684675Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074284179

الإتاحة: https://doi.org/10.3389/fgene.2019.00955Test
http://hdl.handle.net/2434/684675Test

المؤلفون: Catusi, Ilaria, Recalcati, Maria Paola, Bestetti, Ilaria, Garzo, Maria, Valtorta, Chiara, Alfonsi, Melissa, Alghisi, Alberta, Cappellani, Stefania, Casalone, Rosario, Caselli, Rossella, Ceccarini, Caterina, Ceglia, Carlo, Ciaschini, Anna Maria, Coviello, Domenico, Crosti, Francesca, D'Aprile, Annamaria, Fabretto, Antonella, Genesio, Rita, Giagnacovo, Marzia, Granata, Paola, Longo, Ilaria, Malacarne, Michela, Marseglia, Giuseppina, Montaldi, Annamaria, Nardone, Anna Maria, Palka, Chiara, Pecile, Vanna, Pessina, Chiara, Postorivo, Diana, Redaelli, Serena, Renieri, Alessandra, Rigon, Chiara, Tiberi, Fabiola, Tonelli, Mariella, Villa, Nicoletta, Zilio, Anna, Zuccarello, Daniela, Novelli, Antonio, Larizza, Lidia, Giardino, Daniela

المساهمون: Ministero della Salute, Istituto Auxologico Italiano

المصدر: Molecular Genetics & Genomic Medicine ; volume 8, issue 1 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.1056Test