المؤلفون: Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Isis, Atallah, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria

المساهمون: Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Isis, Atallah, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria

Relation: info:eu-repo/semantics/altIdentifier/pmid/35861666; info:eu-repo/semantics/altIdentifier/wos/WOS:000841370900001; volume:31; issue:24; firstpage:4131; lastpage:4142; numberofpages:12; journal:HUMAN MOLECULAR GENETICS; https://hdl.handle.net/11568/1158464; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85145030452; https://academic.oup.com/hmg/article/31/24/4131/6647925?login=false

الاتاحة: https://hdl.handle.net/11568/1158464
https://doi.org/10.1093/hmg/ddac167
https://academic.oup.com/hmg/article/31/24/4131/6647925?login=false

المؤلفون: SIGNORINI, CINZIA, De Felice, Claudio, Leoncini, Silvia, Møller, Rikke S., Zollo, Gloria, Buoni, Sabrina, Cortelazzo, Alessio, GUERRANTI, ROBERTO, Durand, Thierry, CICCOLI, LUCIA, D'Esposito, Maurizio, Ravn, Kirstine, Hayek, Joussef

المساهمون: Signorini, Cinzia, De Felice, Claudio, Leoncini, Silvia, Møller, Rikke S., Zollo, Gloria, Buoni, Sabrina, Cortelazzo, Alessio, Guerranti, Roberto, Durand, Thierry, Ciccoli, Lucia, D'Esposito, Maurizio, Ravn, Kirstine, Hayek, Joussef

مصطلحات موضوعية: Agricultural and Biological Sciences (all), Biochemistry, Genetics and Molecular Biology (all), Medicine (all)

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/26930212; info:eu-repo/semantics/altIdentifier/wos/WOS:000371434500099; volume:11; issue:3; firstpage:1; lastpage:12; numberofpages:12; journal:PLOS ONE; http://hdl.handle.net/11365/991438; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84960925234; https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0150101; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773238/

الاتاحة: http://hdl.handle.net/11365/991438
https://doi.org/10.1371/journal.pone.0150101
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0150101
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773238/

المؤلفون: Loberti, L, Bruno, L, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A, Trujillano, L, Valenzuela, I, Tizzano, E, Spinelli, A, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F, Aristidou, C, Tanteles, G, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Isis, A, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M, Rizzo, C, Bruttini, M, Mari, F, Ariani, F, Renieri, A, Pinto, A, Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Isis, Atallah, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria

مصطلحات الفهرس: KBG syndrome,exome ,array-cgh, MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10281/467122
info:eu-repo/semantics/altIdentifier/pmid/35861666
info:eu-repo/semantics/altIdentifier/wos/WOS:000841370900001
volume:31
issue:24
firstpage:4131
lastpage:4142
numberofpages:12
journal:HUMAN MOLECULAR GENETICS

المؤلفون: Buoni, Sabrina, Geronzi, Ursula, Orsi, Alessandra, Hayek, Youssef

المصدر: Epilepsy & Behavior Case Reports ; volume 4, page 38-40 ; ISSN 2213-3232

الاتاحة: http://dx.doi.org/10.1016/j.ebcr.2015.06.002
https://api.elsevier.com/content/article/PII:S2213323215000213?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2213323215000213?httpAccept=text/plain

المؤلفون: Valencia, Maria, Lapunzina, Pablo, Lim, Derek, Zannolli, Raffaella, Bartholdi, Deborah, Wollnik, Bernd, Al-Ajlouni, Othman, Eid, Suhair S., Cox, Helen, Buoni, Sabrina, Hayek, Joseph, Martinez-Frias, Maria L., Antonio, Perez-Aytes, Temtamy, Samia, Aglan, Mona, Goodship, Judith A., Ruiz-Perez, Victor L.

المساهمون: Valencia, Maria, Lapunzina, Pablo, Lim, Derek, Zannolli, Raffaella, Bartholdi, Deborah, Wollnik, Bernd, Al-Ajlouni, Othman, Eid, Suhair S., Cox, Helen, Buoni, Sabrina, Hayek, Joseph, Martinez-Frias, Maria L., Antonio, Perez-Aytes, Temtamy, Samia, Aglan, Mona, Goodship, Judith A., Ruiz-Perez, Victor L.

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/484; 000272796400008; 3143016

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/484
https://doi.org/10.1002/humu.21117

المؤلفون: Mencarelli, Maria Antonietta, Tassini, Maria, Pollazzon, Marzia, Vivi, Antonio, Calderisi, Marco, Falco, Michele, Fichera, Marco, Monti, Lucia, Buoni, Sabrina, Mari, Francesca, Engelke, Udo, Wevers, Ron A., Hayek, Joussef, Renieri, Alessandra

المصدر: American Journal of Medical Genetics Part A ; volume 155, issue 10, page 2446-2452 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.34208
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.34208
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.34208
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.34208

المؤلفون: Renieri, Alessandra, Parri, Veronica, Katzaki, Eleni, Uliana, Vera, Scionti, Francesca, Tita, Rossella, Longo, Ilaria, Boschloo, Renske, Vijzelaar, Raymon, Selicorni, Angelo, Brancati, Francesco, Dallapiccola, Bruno, Zelante, Leopoldo, Hamel, Christian P, Sarda, Pierre, Lalani, Seema R, Grasso, Rita, Buoni, Sabrina, Hayek, Giuseppe, Servais, Laurent, De Vries, Bert BA, Mari, Francesca, Ariani, Francesca, Petersen, Michael B., Georgoudi, Nelly, Nakou, Sheena

المساهمون: Molecular Biology

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: cohen syndrome, COH1, MLPA

Relation: hal-00535577; https://hal.archives-ouvertes.fr/hal-00535577; https://hal.archives-ouvertes.fr/hal-00535577/document; https://hal.archives-ouvertes.fr/hal-00535577/file/PEER_stage2_10.1038%252Fejhg.2010.59.pdf

الاتاحة: https://hal.archives-ouvertes.fr/hal-00535577
https://hal.archives-ouvertes.fr/hal-00535577/document
https://hal.archives-ouvertes.fr/hal-00535577/file/PEER_stage2_10.1038%252Fejhg.2010.59.pdf
https://doi.org/10.1038/ejhg.2010.59

المؤلفون: Tassini, Maria, Zannolli, Raffaella, Buoni, Sabrina, Engelke, Udo, Vivi, Antonio, Valensin, Gianni, Salomons, Gajja S., De Nicola, Anna, Strambi, Mirella, Monti, Lucia, Morava, Eva, Wevers, Ron A., Hayek, Joseph

المصدر: Journal of Child Neurology ; volume 25, issue 1, page 98-101 ; ISSN 0883-0738 1708-8283

الاتاحة: https://doi.org/10.1177/0883073809336120
https://journals.sagepub.com/doi/pdf/10.1177/0883073809336120

المؤلفون: Ariani, Francesca, Hayek, Giuseppe, Rondinella, Dalila, Artuso, Rosangela, Mencarelli, Maria Antonietta, Spanhol-Rosseto, Ariele, Pollazzon, Marzia, Buoni, Sabrina, Spiga, Ottavia, Ricciardi, Sara, Meloni, Ilaria, Longo, Ilaria, Mari, Francesca, Broccoli, Vania, Zappella, Michele, Renieri, Alessandra

المصدر: The American Journal of Human Genetics ; volume 83, issue 1, page 89-93 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2008.05.015
https://api.elsevier.com/content/article/PII:S0002929708003467?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929708003467?httpAccept=text/plain

المؤلفون: Zannolli, Raffaella, Buoni, Sabrina, Viviano, Massimo, Macucci, Francesca, D'Ambrosio, Alfonso, Livi, Walter, Mazzei, Maria Antonietta, Mazzei, Francesco, Sacco, Palmino, Volterrani, Luca, Vonella, Giuseppina, Orsi, Alessandra, Zappella, Michele, Hayek, Joseph

المصدر: Journal of Child Neurology ; volume 23, issue 6, page 683-689 ; ISSN 0883-0738 1708-8283

الاتاحة: https://doi.org/10.1177/0883073807309778
https://journals.sagepub.com/doi/pdf/10.1177/0883073807309778

المؤلفون: Buoni, Sabrina, Zannolli, Raffaella, Macucci, Francesca, Pucci, Lucia, Mogni, Massimo, Pierluigi, Mauro, Fois, Alberto

المصدر: Journal of Child Neurology ; volume 21, issue 6, page 531-533 ; ISSN 0883-0738 1708-8283

الاتاحة: https://doi.org/10.1177/08830738060210060701
https://journals.sagepub.com/doi/pdf/10.1177/08830738060210060701

المؤلفون: Buoni, Sabrina, Zannolli, Raffaella, Sorrentino, Livio, Fois, Alberto

المصدر: Archives of Neurology ; volume 63, issue 10, page 1479 ; ISSN 0003-9942

الاتاحة: http://dx.doi.org/10.1001/archneur.63.10.1479
http://jamanetwork.com/journals/jamaneurology/fullarticle/792495

المؤلفون: Buoni, Sabrina, Zannolli, Raffaella, Strambi, Mirella, Fois, Alberto

المصدر: Journal of Child Neurology ; volume 19, issue 5, page 385-386 ; ISSN 0883-0738 1708-8283

الاتاحة: https://doi.org/10.1177/088307380401900512
https://journals.sagepub.com/doi/pdf/10.1177/088307380401900512

المؤلفون: Galluzzi, Paolo, Cerase, Alfonso, Strambi, Mirella, Buoni, Sabrina, Fois, Alberto, Venturi, Carlo

المصدر: Journal of Child Neurology ; volume 17, issue 9, page 677-680 ; ISSN 0883-0738 1708-8283

الاتاحة: https://doi.org/10.1177/088307380201700905
https://journals.sagepub.com/doi/pdf/10.1177/088307380201700905

المؤلفون: Buoni, Sabrina, Molinelli, Massimo, Mariottini, Aldo, Rango, Caterina, Medaglini, Sergio, Pieri, Sergio, Strambi, Mirella, Fois, Alberto

المصدر: Journal of Child Neurology ; volume 16, issue 9, page 688-690 ; ISSN 0883-0738 1708-8283

الاتاحة: https://doi.org/10.1177/088307380101600913
https://journals.sagepub.com/doi/pdf/10.1177/088307380101600913

المؤلفون: Veneselli, Edvige, Biancheri, Roberta, Buoni, Sabrina, Fois, Alberto

المصدر: Brain and Development ; volume 23, issue 5, page 306-311 ; ISSN 0387-7604

الاتاحة: https://doi.org/10.1016/s0387-7604(01)00231-5
https://api.elsevier.com/content/article/PII:S0387760401002315?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0387760401002315?httpAccept=text/plain

المؤلفون: Buoni, Sabrina, Sorrentino, Livio, Farnetani, Maria Angela, Pucci, Lucia, Fois, Alberto

المصدر: Journal of Child Neurology ; volume 15, issue 6, page 380-385 ; ISSN 0883-0738 1708-8283

الاتاحة: https://doi.org/10.1177/088307380001500605
https://journals.sagepub.com/doi/pdf/10.1177/088307380001500605

المؤلفون: Buoni, Sabrina, Grosso, Salvatore, Fois, Alberto

المصدر: Journal of Child Neurology ; volume 13, issue 4, page 163-167 ; ISSN 0883-0738 1708-8283

الاتاحة: https://doi.org/10.1177/088307389801300403
https://journals.sagepub.com/doi/pdf/10.1177/088307389801300403

المؤلفون: Buoni, Sabrina, Grosso, Salvatore, Di Cosmo, Giuseppina, Di Bartolo, Rosanna M., Di Marco, Virginia, Fois, Alberto

المصدر: Journal of Child Neurology ; volume 13, issue 2, page 89-93 ; ISSN 0883-0738 1708-8283

الاتاحة: https://doi.org/10.1177/088307389801300210
https://journals.sagepub.com/doi/pdf/10.1177/088307389801300210

المؤلفون: Khaikin, Yannay, Sidky, Sarah, Abdenur, Jose, Anastasi, Arnaud, Ballhausen, Diana, Buoni, Sabrina, Chan, Alicia, Cheillan, David, Dorison, Nathalie, Goldenberg, Alice, Goldstein, Jennifer, Hofstede, Floris C., Jacquemont, Marie-Line, Koeberl, Dwight D., Lion-Francois, Laurence, Lund, Allan Meldgaard, Mention, Karine, Mundy, Helen, O'Rourke, Declan, Pitelet, Gaele, Raspall-Chaure, Miquel, Tassini, Maria, Billette de Villemeur, Thierry, Williams, Monique, Salomons, Gajja S., Mercimek-Andrews, Saadet

المصدر: Khaikin , Y , Sidky , S , Abdenur , J , Anastasi , A , Ballhausen , D , Buoni , S , Chan , A , Cheillan , D , Dorison , N , Goldenberg , A , Goldstein , J , Hofstede , F C , Jacquemont , M-L , Koeberl , D D , Lion-Francois , L , Lund , A M , Mention , K , Mundy , H , O'Rourke , D , Pitelet , G , Raspall-Chaure , M , Tassini , M , Billette de Villemeur , T , Williams , ....

الاتاحة: https://research.vumc.nl/en/publications/1699da00-e25e-4624-a62d-28a31a8c7d8b
https://doi.org/10.1016/j.ejpn.2018.02.007
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85042625062&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/29506905