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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Genetics in medicine, 2024-11, Vol.26 (11), p.101241, Article 101241
- Mastromoro, Gioia
- Santoro, Claudia
- Motta, Marialetizia
- Sorrentino, Ugo
- Daniele, Paola
- Peduto, Cristina
- Petrizzelli, Francesco
- Tripodi, Martina
- Pinna, Valentina
- Zanobio, Mariateresa
- Rotundo, Giovannina
- Bellacchio, Emanuele
- Lepri, Francesca
- Farina, Antonella
- D’Asdia, Maria Cecilia
- Piceci-Sparascio, Francesca
- Biagini, Tommaso
- Petracca, Antonio
- Castori, Marco
- Melis, Daniela
- Accadia, Maria
- Traficante, Giovanna
- Tarani, Luigi
- Fontana, Paolo
- Sirchia, Fabio
- Paparella, Roberto
- Currò, Aurora
- Benedicenti, Francesco
- Scala, Iris
- Dentici, Maria Lisa
- Leoni, Chiara
- Trevisan, Valentina
- Cecconi, Antonella
- Giustini, Sandra
- Pizzuti, Antonio
- Salviati, Leonardo
- Novelli, Antonio
- Zampino, Giuseppe
- Zenker, Martin
- Genuardi, Maurizio
- Digilio, Maria Cristina
- Papi, Laura
- Perrotta, Silverio
- Nigro, Vincenzo
- Castellanos, Elisabeth
- Mazza, Tommaso
- Trevisson, Eva
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- Piluso, Giulio
- De Luca, Alessandro
2024
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Italian journal of pediatrics, 2024-09, Vol.50 (1), p.183-8, Article 183
2024
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Clinical genetics, 2023-11, Vol.104 (5), p.528-541
- Sinibaldi, Lorenzo
- Garone, Giacomo
- Mandarino, Alessandra
- Iarossi, Giancarlo
- Chioma, Laura
- Dentici, Maria Lisa
- Merla, Giuseppe
- Agolini, Emanuele
- Micalizzi, Alessia
- Mancini, Cecilia
- Niceta, Marcello
- Macchiaiolo, Marina
- Diodato, Daria
- Onesimo, Roberta
- Blandino, Rita
- Delogu, Angelica Bibiana
- De Rosa, Gabriella
- Trevisan, Valentina
- Iademarco, Mariella
- Zampino, Giuseppe
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- Digilio, Maria Cristina
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2023
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The Journal of biological chemistry, 2023-07, Vol.299 (7), p.104916-104916, Article 104916
2023
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Bio-protocol, 2023-05, Vol.13 (10), p.e4675
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European journal of human genetics : EJHG, 2023-04, Vol.31 (4), p.479-484
- Piceci-Sparascio, Francesca
- Micale, Lucia
- Torres, Barbara
- Guida, Valentina
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- Onori, Annamaria
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- D'Asdia, Maria Cecilia
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- Mancini, Cecilia
- Soli, Fiorenza
- Cocciadiferro, Dario
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2023
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Frontiers in pediatrics, 2023-03, Vol.11, p.1111527-1111527
- Campi, Francesca
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- Gandolfo, Carlo
- Dotta, Andrea
2023
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European journal of medical genetics, 2023-01, Vol.66 (1), p.104651-104651, Article 104651
- Putotto, Carolina
- Unolt, Marta
- Lambiase, Caterina
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- Digilio, Maria Cristina
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2023
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Truncated Analogues of a G-Quadruplex-Forming Aptamer Targeting Mutant Huntingtin: Shorter Is Better
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American journal of medical genetics. Part A, 2022-10, Vol.188 (10), p.2958-2968
- Hardcastle, Amy
- Berry, Aliska M.
- Campbell, Ian M.
- Zhao, Xiaonan
- Liu, Pengfei
- Gerard, Amanda E.
- Rosenfeld, Jill A.
- Sisoudiya, Saumya D.
- Hernandez‐Garcia, Andres
- Loddo, Sara
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- Novelli, Antonio
- Dentici, Maria L.
- Capolino, Rossella
- Digilio, Maria C.
- Graziani, Ludovico
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- Neas, Katherine
- Ferrero, Giovanni B.
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- Beneteau, Claire
- Joubert, Madeleine
- Van Den Bogaert, Kris
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- McMullan, Dominic J.
- Dean, John
- Giuffrida, Maria G.
- Bernardini, Laura
- Varghese, Vinod
- Shannon, Nora L.
- Harrison, Rachel E.
- Lam, Wayne W. K.
- McKee, Shane
- Turnpenny, Peter D.
- Cole, Trevor
- Morton, Jenny
- Eason, Jacqueline
- Jones, Marilyn C.
- Hall, Rebecca
- Wright, Michael
- Horridge, Karen
- Shaw, Chad A.
- Chung, Wendy K.
- Scott, Daryl A.
2022
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Genes, brain and behavior, 2022-07, Vol.21 (6), p.e12816-n/a
2022
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The Journal of neuroscience, 2022-06, Vol.42 (22), p.4415-4434
2022
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International journal of molecular sciences, 2022-04, Vol.23 (9), p.4804
2022
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Vaccine, 2022-01, Vol.40 (4), p.640-649
- Chowdhury, Fahima
- Akter, Afroza
- Bhuiyan, Taufiqur Rahman
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- Teshome, Samuel
- Sil, Arijit
- Park, Ju Yeon
- Chon, Yun
- Ferdous, Jannatul
- Basher, Salima Raiyan
- Ahmed, Faez
- Karim, Mahbubul
- Ahasan, Mohammad Mainul
- Mia, Masudur Rahman
- Masud, Mir Mohammad Ibna
- Khan, Abdul Wahab
- Billah, Masum
- Nahar, Zebun
- Khan, Imran
- Ross, Allen G.
- Kim, Deok Ryun
- Ashik, Md. Muktadir Rahman
- Digilio, Laura
- Lynch, Julia
- Excler, Jean-Louis
- Clemens, John D.
- Qadri, Firdausi
2022
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Frontiers in endocrinology (Lausanne), 2021-12, Vol.12, p.761171-761171
- Libraro, Annachiara
- D'Ascanio, Vito
- Cappa, Marco
- Chiarito, Mariangela
- Digilio, Maria Cristina
- Einaudi, Silvia
- Grandone, Anna
- Maghnie, Mohamad
- Mazzanti, Laura
- Mussa, Alessandro
- Patti, Giuseppa
- Scarano, Emanuela
- Spinuzza, Antonietta
- Vannelli, Silvia
- Wasniewska, Malgorzata Gabriela
- Ferrero, Giovanni Battista
- Faienza, Maria Felicia
2021
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Clinical genetics, 2021-09, Vol.100 (3), p.268-279
- Guida, Valentina
- Sparascio, Francesca Piceci
- Bernardini, Laura
- Pancheri, Francesco
- Melis, Daniela
- Cocciadiferro, Dario
- Pagnoni, Mario
- Puzzo, Marianna
- Goldoni, Marina
- Barone, Chiara
- Hozhabri, Hossein
- Putotto, Carolina
- Giuffrida, Maria Grazia
- Briuglia, Silvana
- Palumbo, Orazio
- Bianca, Sebastiano
- Stanzial, Franco
- Benedicenti, Francesco
- Kariminejad, Ariana
- Forzano, Francesca
- Baghernajad Salehi, Leila
- Mattina, Teresa
- Brancati, Francesco
- Castori, Marco
- Carella, Massimo
- Fadda, Maria Teresa
- Iannetti, Giorgio
- Dallapiccola, Bruno
- Digilio, Maria Cristina
- Marino, Bruno
- Tartaglia, Marco
- De Luca, Alessandro
2021
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Heliyon, 2021-06, Vol.7 (6), p.e07314-e07314, Article e07314
2021
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International journal of molecular sciences, 2021-01, Vol.22 (3), p.1190
- Guida, Valentina
- Calzari, Luciano
- Fadda, Maria Teresa
- Piceci-Sparascio, Francesca
- Digilio, Maria Cristina
- Bernardini, Laura
- Brancati, Francesco
- Mattina, Teresa
- Melis, Daniela
- Forzano, Francesca
- Briuglia, Silvana
- Mazza, Tommaso
- Bianca, Sebastiano
- Valente, Enza Maria
- Salehi, Leila Bagherjad
- Prontera, Paolo
- Pagnoni, Mario
- Tenconi, Romano
- Dallapiccola, Bruno
- Iannetti, Giorgio
- Corsaro, Luigi
- De Luca, Alessandro
- Gentilini, Davide
2021
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European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.51-60
- Lissewski, Christina
- Chune, Valérie
- Pantaleoni, Francesca
- De Luca, Alessandro
- Capri, Yline
- Brinkmann, Julia
- Lepri, Francesca
- Daniele, Paola
- Leenders, Erika
- Mazzanti, Laura
- Scarano, Emanuela
- Radio, Francesca Clementina
- Kutsche, Kerstin
- Kuechler, Alma
- Gérard, Marion
- Ranguin, Kara
- Legendre, Marine
- Vial, Yoann
- van der Burgt, Ineke
- Rinne, Tuula
- Andreucci, Elena
- Mastromoro, Gioia
- Digilio, Maria Cristina
- Cave, Hélène
- Tartaglia, Marco
- Zenker, Martin
2021
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American journal of human genetics, 2020-01, Vol.106 (1), p.26-40
- Zhao, Yingjie
- Diacou, Alexander
- Johnston, H. Richard
- Musfee, Fadi I.
- McDonald-McGinn, Donna M.
- McGinn, Daniel
- Crowley, T. Blaine
- Repetto, Gabriela M.
- Swillen, Ann
- Breckpot, Jeroen
- Vermeesch, Joris R.
- Kates, Wendy R.
- Digilio, M. Cristina
- Unolt, Marta
- Marino, Bruno
- Pontillo, Maria
- Armando, Marco
- Di Fabio, Fabio
- Vicari, Stefano
- van den Bree, Marianne
- Moss, Hayley
- Owen, Michael J.
- Murphy, Kieran C.
- Murphy, Clodagh M.
- Murphy, Declan
- Schoch, Kelly
- Shashi, Vandana
- Tassone, Flora
- Simon, Tony J.
- Shprintzen, Robert J.
- Campbell, Linda
- Philip, Nicole
- Heine-Suñer, Damian
- García-Miñaúr, Sixto
- Fernández, Luis
- Antonarakis, Stylianos E.
- Biondi, Massimo
- Boot, Erik
- Breetvelt, Elemi
- Busa, Tiffany
- Butcher, Nancy
- Buzzanca, Antonino
- Carmel, Miri
- Cleynen, Isabelle
- Cutler, David
- Dallapiccola, Bruno
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- Epstein, Michael P.
- Evers, Rens
- Fernandez, Luis
- Fritsch, Rosemarie
- Algas, Fernando García
- Guo, Tingwei
- Gur, Raquel
- Hestand, Matthew S.
- Heung, Tracy
- Hooper, Stephen
- Jin, Andrea
- Kushan-Wells, Leila
- Laorden-Nieto, Alejandra Teresa
- Lattanzi, Guido
- Marshall, Christian
- McCabe, Kathryn
- Michaelovsky, Elena
- Ornstein, Claudia
- Silversides, Candice
- Tran, Oanh
- van Duin, Esther D.A.
- Vergaelen, Elfi
- Warren, Steve T.
- Weinberger, Ronnie
- Weizman, Abraham
- Zhang, Zhengdong
- Zwick, Michael
- Bearden, Carrie E.
- Vingerhoets, Claudia
- van Amelsvoort, Therese
- Eliez, Stephan
- Schneider, Maude
- Vorstman, Jacob A.S.
- Gothelf, Doron
- Zackai, Elaine
- Agopian, A.J.
- Gur, Raquel E.
- Bassett, Anne S.
- Emanuel, Beverly S.
- Goldmuntz, Elizabeth
- Mitchell, Laura E.
- Wang, Tao
- Morrow, Bernice E.
2020
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Human mutation, 2020-01, Vol.41 (1), p.299-315
- Koczkowska, Magdalena
- Callens, Tom
- Chen, Yunjia
- Gomes, Alicia
- Hicks, Alesha D.
- Sharp, Angela
- Johns, Eric
- Uhas, Kim Armfield
- Armstrong, Linlea
- Bosanko, Katherine Armstrong
- Babovic‐Vuksanovic, Dusica
- Baker, Laura
- Basel, Donald G.
- Bengala, Mario
- Bennett, James T.
- Chambers, Chelsea
- Clarkson, Lola K.
- Clementi, Maurizio
- Cortés, Fanny M.
- Cunningham, Mitch
- D'Agostino, M. Daniela
- Delatycki, Martin B.
- Digilio, Maria C.
- Dosa, Laura
- Esposito, Silvia
- Fox, Stephanie
- Freckmann, Mary‐Louise
- Fauth, Christine
- Giugliano, Teresa
- Giustini, Sandra
- Goetsch, Allison
- Goldberg, Yael
- Greenwood, Robert S.
- Griffis, Cristin
- Gripp, Karen W.
- Gupta, Punita
- Haan, Eric
- Hachen, Rachel K.
- Haygarth, Tamara L.
- Hernández‐Chico, Concepción
- Hodge, Katelyn
- Hopkin, Robert J.
- Hudgins, Louanne
- Janssens, Sandra
- Keller, Kory
- Kelly‐Mancuso, Geraldine
- Kochhar, Aaina
- Korf, Bruce R.
- Lewis, Andrea M.
- Liebelt, Jan
- Lichty, Angie
- Listernick, Robert H.
- Lyons, Michael J.
- Maystadt, Isabelle
- Martinez Ojeda, Mayra
- McDougall, Carey
- McGregor, Lesley K.
- Melis, Daniela
- Mendelsohn, Nancy
- Nowaczyk, Malgorzata J.M.
- Ortenberg, June
- Panzer, Karin
- Pappas, John G.
- Pierpont, Mary Ella
- Piluso, Giulio
- Pinna, Valentina
- Pivnick, Eniko K.
- Pond, Dinel A.
- Powell, Cynthia M.
- Rogers, Caleb
- Ruhrman Shahar, Noa
- Rutledge, S. Lane
- Saletti, Veronica
- Sandaradura, Sarah A.
- Santoro, Claudia
- Schatz, Ulrich A.
- Schreiber, Allison
- Scott, Daryl A.
- Sellars, Elizabeth A.
- Sheffer, Ruth
- Siqveland, Elizabeth
- Slopis, John M.
- Smith, Rosemarie
- Spalice, Alberto
- Stockton, David W.
- Streff, Haley
- Theos, Amy
- Tomlinson, Gail E.
- Tran, Grace
- Trapane, Pamela L.
- Trevisson, Eva
- Ullrich, Nicole J.
- Van den Ende, Jenneke
- Schrier Vergano, Samantha A.
- Wallace, Stephanie E.
- Wangler, Michael F.
- Weaver, David D.
- Yohay, Kaleb H.
- Zackai, Elaine
- Zonana, Jonathan
2020
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American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1570-1574
2019
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Genetics in medicine, 2019-04, Vol.21 (4), p.867-876
- Koczkowska, Magdalena
- Callens, Tom
- Gomes, Alicia
- Sharp, Angela
- Chen, Yunjia
- Hicks, Alesha D.
- Aylsworth, Arthur S.
- Azizi, Amedeo A.
- Basel, Donald G.
- Bellus, Gary
- Bird, Lynne M.
- Blazo, Maria A.
- Burke, Leah W.
- Cannon, Ashley
- Collins, Felicity
- DeFilippo, Colette
- Denayer, Ellen
- Digilio, Maria C.
- Dills, Shelley K.
- Dosa, Laura
- Greenwood, Robert S.
- Griffis, Cristin
- Gupta, Punita
- Hachen, Rachel K.
- Hernández-Chico, Concepción
- Janssens, Sandra
- Jones, Kristi J.
- Jordan, Justin T.
- Kannu, Peter
- Korf, Bruce R.
- Lewis, Andrea M.
- Listernick, Robert H.
- Lonardo, Fortunato
- Mahoney, Maurice J.
- Ojeda, Mayra Martinez
- McDonald, Marie T.
- McDougall, Carey
- Mendelsohn, Nancy
- Miller, David T.
- Mori, Mari
- Oostenbrink, Rianne
- Perreault, Sebastién
- Pierpont, Mary Ella
- Piscopo, Carmelo
- Pond, Dinel A.
- Randolph, Linda M.
- Rauen, Katherine A.
- Rednam, Surya
- Rutledge, S. Lane
- Saletti, Veronica
- Schaefer, G. Bradley
- Schorry, Elizabeth K.
- Scott, Daryl A.
- Shugar, Andrea
- Siqveland, Elizabeth
- Starr, Lois J.
- Syed, Ashraf
- Trapane, Pamela L.
- Ullrich, Nicole J.
- Wakefield, Emily G.
- Walsh, Laurence E.
- Wangler, Michael F.
- Zackai, Elaine
- Claes, Kathleen B. M.
- Wimmer, Katharina
- van Minkelen, Rick
- De Luca, Alessandro
- Martin, Yolanda
- Legius, Eric
- Messiaen, Ludwine M.
2019
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Genetics in medicine, 2019-03, Vol.21 (3), p.764-765
- Koczkowska, Magdalena
- Callens, Tom
- Gomes, Alicia
- Sharp, Angela
- Chen, Yunjia
- Hicks, Alesha D.
- Aylsworth, Arthur S.
- Azizi, Amedeo A.
- Basel, Donald G.
- Bellus, Gary
- Bird, Lynne M.
- Blazo, Maria A.
- Burke, Leah W.
- Cannon, Ashley
- Collins, Felicity
- DeFilippo, Colette
- Denayer, Ellen
- Digilio, Maria C.
- Dills, Shelley K.
- Dosa, Laura
- Greenwood, Robert S.
- Griffis, Cristin
- Gupta, Punita
- Hachen, Rachel K.
- Hernández-Chico, Concepción
- Janssens, Sandra
- Jones, Kristi J.
- Jordan, Justin T.
- Kannu, Peter
- Korf, Bruce R.
- Lewis, Andrea M.
- Listernick, Robert H.
- Lonardo, Fortunato
- Mahoney, Maurice J.
- Ojeda, Mayra Martinez
- McDonald, Marie T.
- McDougall, Carey
- Mendelsohn, Nancy
- Miller, David T.
- Mori, Mari
- Oostenbrink, Rianne
- Perreault, Sebastién
- Pierpont, Mary Ella
- Piscopo, Carmelo
- Pond, Dinel A.
- Randolph, Linda M.
- Rauen, Katherine A.
- Rednam, Surya
- Rutledge, S. Lane
- Saletti, Veronica
- Schaefer, G. Bradley
- Schorry, Elizabeth K.
- Scott, Daryl A.
- Shugar, Andrea
- Siqveland, Elizabeth
- Starr, Lois J.
- Syed, Ashraf
- Trapane, Pamela L.
- Ullrich, Nicole J.
- Wakefield, Emily G.
- Walsh, Laurence E.
- Wangler, Michael F.
- Zackai, Elaine
- Claes, Kathleen B. M.
- Wimmer, Katharina
- van Minkelen, Rick
- De Luca, Alessandro
- Martin, Yolanda
- Legius, Eric
- Messiaen, Ludwine M.
2019
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The Journal of biological chemistry, 2018-12, Vol.293 (49), p.18890-18902
2018
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