Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Pippucci, Tommaso"" wg kryterium: Autor


Tytuł :
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East
Autorzy :
Palombo, FlaviaAff1, Aff2
Graziano, Claudio
Al Wardy, Nadia
Nouri, NayerehAff4, Aff5
Marconi, Caterina
Magini, Pamela
Severi, Giulia
La Morgia, ChiaraAff2, Aff7
Cantalupo, GaetanoAff8, Aff9
Cordelli, Duccio MariaAff6, Aff10
Gangarossa, Simone
Al Kindi, Mohammed Nasser
Al Khabouri, MazinAff3, Aff12
Salehi, Mansoor
Giorgio, Elisa
Brusco, Alfredo
Pisani, Francesco
Romeo, Giovanni
Carelli, ValerioAff2, Aff7
Pippucci, Tommaso
Seri, MarcoAff1, Aff6
Pokaż więcej
Źródło :
Human Genetics. 139(11):1429-1441
Czasopismo naukowe
Tytuł :
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes
Autorzy :
Dimartino, Paola
Mariani, Valeria
Marconi, Caterina
Minardi, Raffaella
Bramerio, Manuela
Licchetta, LauraAff3, Aff5
Menghi, VeronicaAff3, Aff5
Morandi, LucaAff3, Aff6
Magini, Pamela
Mongelli, Patrizia
Cardinale, Francesco
Seri, MarcoAff1, Aff7
Tinuper, PaoloAff3, Aff5
Tassi, Laura
Pippucci, Tommaso
Bisulli, FrancescaAff3, Aff5
Pokaż więcej
Źródło :
Molecular Diagnosis & Therapy. 24(5):571-577
Czasopismo naukowe
Tytuł :
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
Autorzy :
Feng, Yen-Chen Anne
Howrigan, Daniel P.
Abbott, Liam E.
Tashman, Katherine
Cerrato, Felecia
Singh, Tarjinder
Heyne, Henrike
Byrnes, Andrea
Churchhouse, Claire
Watts, Nick
Solomonson, Matthew
Lal, Dennis
Heinzen, Erin L.
Dhindsa, Ryan S.
Stanley, Kate E.
Cavalleri, Gianpiero L.
Hakonarson, Hakon
Helbig, Ingo
Krause, Roland
May, Patrick
Weckhuysen, Sarah
Petrovski, Slavé
Kamalakaran, Sitharthan
Sisodiya, Sanjay M.
Cossette, Patrick
Cotsapas, Chris
De Jonghe, Peter
Dixon-Salazar, Tracy
Guerrini, Renzo
Kwan, Patrick
Marson, Anthony G.
Stewart, Randy
Depondt, Chantal
Dlugos, Dennis J.
Scheffer, Ingrid E.
Striano, Pasquale
Freyer, Catharine
McKenna, Kevin
Regan, Brigid M.
Bellows, Susannah T.
Leu, Costin
Bennett, Caitlin A.
Johns, Esther M.C.
Macdonald, Alexandra
Shilling, Hannah
Burgess, Rosemary
Weckhuysen, Dorien
Bahlo, Melanie
O’Brien, Terence J.
Todaro, Marian
Stamberger, Hannah
Andrade, Danielle M.
Sadoway, Tara R.
Mo, Kelly
Krestel, Heinz
Gallati, Sabina
Papacostas, Savvas S.
Kousiappa, Ioanna
Tanteles, George A.
Štěrbová, Katalin
Vlčková, Markéta
Sedláčková, Lucie
Laššuthová, Petra
Klein, Karl Martin
Rosenow, Felix
Reif, Philipp S.
Knake, Susanne
Kunz, Wolfram S.
Zsurka, Gábor
Elger, Christian E.
Bauer, Jürgen
Rademacher, Michael
Pendziwiat, Manuela
Muhle, Hiltrud
Rademacher, Annika
van Baalen, Andreas
von Spiczak, Sarah
Stephani, Ulrich
Afawi, Zaid
Korczyn, Amos D.
Kanaan, Moien
Canavati, Christina
Kurlemann, Gerhard
Müller-Schlüter, Karen
Kluger, Gerhard
Häusler, Martin
Blatt, Ilan
Lemke, Johannes R.
Krey, Ilona
Weber, Yvonne G.
Wolking, Stefan
Becker, Felicitas
Hengsbach, Christian
Rau, Sarah
Maisch, Ana F.
Steinhoff, Bernhard J.
Schulze-Bonhage, Andreas
Schubert-Bast, Susanne
Schreiber, Herbert
Borggräfe, Ingo
Schankin, Christoph J.
Mayer, Thomas
Korinthenberg, Rudolf
Brockmann, Knut
Kurlemann, Gerhard
Dennig, Dieter
Madeleyn, Rene
Kälviäinen, Reetta
Auvinen, Pia
Saarela, Anni
Linnankivi, Tarja
Lehesjoki, Anna-Elina
Rees, Mark I.
Chung, Seo-Kyung
Pickrell, William O.
Powell, Robert
Schneider, Natascha
Balestrini, Simona
Zagaglia, Sara
Braatz, Vera
Johnson, Michael R.
Auce, Pauls
Sills, Graeme J.
Baum, Larry W.
Sham, Pak C.
Cherny, Stacey S.
Lui, Colin H.T.
Barišić, Nina
Delanty, Norman
Doherty, Colin P.
Shukralla, Arif
McCormack, Mark
El-Naggar, Hany
Canafoglia, Laura
Franceschetti, Silvana
Castellotti, Barbara
Granata, Tiziana
Zara, Federico
Iacomino, Michele
Madia, Francesca
Vari, Maria Stella
Mancardi, Maria Margherita
Salpietro, Vincenzo
Bisulli, Francesca
Tinuper, Paolo
Licchetta, Laura
Pippucci, Tommaso
Stipa, Carlotta
Minardi, Raffaella
Gambardella, Antonio
Labate, Angelo
Annesi, Grazia
Manna, Lorella
Gagliardi, Monica
Parrini, Elena
Mei, Davide
Vetro, Annalisa
Bianchini, Claudia
Montomoli, Martino
Doccini, Viola
Marini, Carla
Suzuki, Toshimitsu
Inoue, Yushi
Yamakawa, Kazuhiro
Tumiene, Birute
Sadleir, Lynette G.
King, Chontelle
Mountier, Emily
Caglayan, S. Hande
Arslan, Mutluay
Yapıcı, Zuhal
Yis, Uluc
Topaloglu, Pınar
Kara, Bulent
Turkdogan, Dilsad
Gundogdu-Eken, Aslı
Bebek, Nerses
Uğur-İşeri, Sibel
Baykan, Betül
Salman, Barış
Haryanyan, Garen
Yücesan, Emrah
Kesim, Yeşim
Özkara, Çiğdem
Poduri, Annapurna
Shiedley, Beth R.
Shain, Catherine
Buono, Russell J.
Ferraro, Thomas N.
Sperling, Michael R.
Lo, Warren
Privitera, Michael
French, Jacqueline A.
Schachter, Steven
Kuzniecky, Ruben I.
Devinsky, Orrin
Hegde, Manu
Khankhanian, Pouya
Helbig, Katherine L.
Ellis, Colin A.
Spalletta, Gianfranco
Piras, Fabrizio
Piras, Federica
Gili, Tommaso
Ciullo, Valentina
Reif, Andreas
McQuillin, Andrew
Bass, Nick
McIntosh, Andrew
Blackwood, Douglas
Johnstone, Mandy
Palotie, Aarno
Pato, Michele T.
Pato, Carlos N.
Bromet, Evelyn J.
Carvalho, Celia Barreto
Achtyes, Eric D.
Azevedo, Maria Helena
Kotov, Roman
Lehrer, Douglas S.
Malaspina, Dolores
Marder, Stephen R.
Medeiros, Helena
Morley, Christopher P.
Perkins, Diana O.
Sobell, Janet L.
Buckley, Peter F.
Macciardi, Fabio
Rapaport, Mark H.
Knowles, James A.
Fanous, Ayman H.
McCarroll, Steven A.
Gupta, Namrata
Gabriel, Stacey B.
Daly, Mark J.
Lander, Eric S.
Lowenstein, Daniel H.
Goldstein, David B.
Lerche, Holger
Berkovic, Samuel F.
Neale, Benjamin M.
Pokaż więcej
Źródło :
In The American Journal of Human Genetics 1 August 2019 105(2):267-282
Czasopismo naukowe
Tytuł :
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Autorzy :
Corbett, Mark A.
Kroes, Thessa
Veneziano, Liana
Bennett, Mark F.Aff3, Aff4, Aff5
Florian, Rahel
Schneider, Amy L.
Coppola, Antonietta
Licchetta, LauraAff8, Aff9
Franceschetti, SilvanaAff10, Aff11
Suppa, AntonioAff12, Aff13
Wenger, Aaron
Mei, Davide
Pendziwiat, Manuela
Kaya, Sabine
Delledonne, Massimo
Straussberg, RachelAff18, Aff19
Xumerle, Luciano
Regan, Brigid
Crompton, DouglasAff5, Aff21
van Rootselaar, Anne-Fleur
Correll, Anthony
Catford, Rachael
Bisulli, FrancescaAff8, Aff9
Chakraborty, Shreyasee
Baldassari, Sara
Tinuper, PaoloAff8, Aff9
Barton, Kirston
Carswell, Shaun
Smith, MartinAff24, Aff25
Berardelli, AlfredoAff12, Aff13
Carroll, Renee
Gardner, Alison
Friend, Kathryn L.
Blatt, Ilan
Iacomino, Michele
Di Bonaventura, Carlo
Striano, Salvatore
Buratti, Julien
Keren, Boris
Nava, Caroline
Forlani, Sylvie
Rudolf, GabrielleAff31, Aff32, Aff33, Aff34, Aff35
Hirsch, Edouard
Leguern, EricAff29, Aff30
Labauge, Pierre
Balestrini, SimonaAff37, Aff38
Sander, Josemir W.Aff37, Aff38
Afawi, Zaid
Helbig, IngoAff39, Aff16
Ishiura, Hiroyuki
Tsuji, ShojiAff40, Aff41, Aff42
Sisodiya, Sanjay M.Aff37, Aff38
Casari, Giorgio
Sadleir, Lynette G.
van Coller, Riaan
Tijssen, Marina A. J.
Klein, Karl MartinAff47, Aff48, Aff49
van den Maagdenberg, Arn M. J. M.
Zara, Federico
Guerrini, Renzo
Berkovic, Samuel F.
Pippucci, Tommaso
Canafoglia, LauraAff10, Aff11
Bahlo, MelanieAff3, Aff4
Striano, PasqualeAff52, Aff53
Scheffer, Ingrid E.Aff5, Aff54
Brancati, FrancescoAff2, Aff55, Aff56
Depienne, ChristelAff6, Aff31, Aff35
Gecz, JozefAff1, Aff57
Pokaż więcej
Źródło :
Nature Communications. 10(1)
Czasopismo naukowe
Tytuł :
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
Autorzy :
Negri, Gloria
Magini, Pamela
Milani, Donatella
Crippa, MilenaAff4, Aff5
Biamino, Elisa
Piccione, Maria
Sotgiu, Stefano
Perrìa, Chiara
Vitiello, Giuseppina
Frontali, Marina
Boni, Antonella
Di Fede, Elisabetta
Gandini, Maria Chiara
Colombo, Elisa Adele
Bamshad, Michael J.
Nickerson, Deborah A.
Smith, Joshua D.
Loddo, Italia
Finelli, PalmaAff4, Aff5
Seri, Marco
Pippucci, Tommaso
Larizza, Lidia
Gervasini, Cristina
Pokaż więcej
Źródło :
Human Genetics. 138(3):257-269
Czasopismo naukowe
Tytuł :
The landscape of epilepsy-related GATOR1 variants
Autorzy :
Baldassari, SaraAff1, Aff2, Aff3, Aff4, Aff5
Picard, Fabienne
Verbeek, Nienke E.
van Kempen, Marjan
Brilstra, Eva H.
Lesca, Gaetan
Conti, Valerio
Guerrini, Renzo
Bisulli, Francesca
Licchetta, Laura
Pippucci, Tommaso
Tinuper, Paolo
Hirsch, Edouard
de Saint Martin, Anne
Chelly, Jamel
Rudolf, Gabrielle
Chipaux, Mathilde
Ferrand-Sorbets, Sarah
Dorfmüller, Georg
Sisodiya, Sanjay
Balestrini, Simona
Schoeler, Natasha
Hernandez-Hernandez, Laura
Krithika, S.
Oegema, Renske
Hagebeuk, Eveline
Gunning, Boudewijn
Deckers, Charles
Berghuis, Bianca
Wegner, Ilse
Niks, Erik
Jansen, Floor E.
Braun, Kees
de Jong, Daniëlle
Rubboli, Guido
Talvik, Inga
Sander, Valentin
Uldall, Peter
Jacquemont, Marie-Line
Nava, CarolineAff1, Aff2, Aff3, Aff4, Aff5
Leguern, EricAff1, Aff2, Aff3, Aff4, Aff5
Julia, Sophie
Gambardella, Antonio
d’Orsi, Giuseppe
Crichiutti, Giovanni
Faivre, Laurence
Darmency, Veronique
Benova, Barbora
Krsek, Pavel
Biraben, Arnaud
Lebre, Anne-Sophie
Jennesson, Mélanie
Sattar, Shifteh
Marchal, Cécile
Nordli, Jr, Douglas R
Lindstrom, Kristin
Striano, Pasquale
Lomax, Lysa BoisséAff40, Aff41
Kiss, Courtney
Bartolomei, Fabrice
Lepine, Anne Fabienne
Schoonjans, An-Sofie
Stouffs, Katrien
Jansen, Anna
Panagiotakaki, Eleni
Ricard-Mousnier, Brigitte
Thevenon, Julien
de Bellescize, Julitta
Catenoix, Hélène
Dorn, Thomas
Zenker, Martin
Müller-Schlüter, Karen
Brandt, Christian
Krey, Ilona
Polster, Tilman
Wolff, Markus
Balci, Meral
Rostasy, Kevin
Achaz, Guillaume
Zacher, Pia
Becher, Thomas
Cloppenborg, Thomas
Yuskaitis, Christopher J.Aff58, Aff59, Aff60
Weckhuysen, Sarah
Poduri, AnnapurnaAff58, Aff59, Aff60
Lemke, Johannes R.
Møller, Rikke S.
Baulac, StéphanieAff1, Aff2, Aff3, Aff4, Aff5
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(2):398-408
Czasopismo naukowe
Tytuł :
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients
Autorzy :
Ciavarella, Michele
Miccoli, SaraAff1, Aff2
Prossomariti, AnnaAff3, Aff4
Pippucci, Tommaso
Bonora, ElenaAff1, Aff2
Buscherini, Francesco
Palombo, Flavia
Zuntini, RobertaAff1, Aff2
Balbi, Tiziana
Ceccarelli, Claudio
Bazzoli, Franco
Ricciardiello, LuigiAff2, Aff3, Aff4
Turchetti, DanielaAff1, Aff2
Piazzi, GiuliaAff2, Aff3, Aff4
Pokaż więcej
Źródło :
European Journal of Human Genetics. 26(3):387-395
Czasopismo naukowe
Tytuł :
Correction: The landscape of epilepsy-related GATOR1 variants
Autorzy :
Baldassari, SaraAff1, Aff2, Aff3, Aff4, Aff5
Picard, Fabienne
Verbeek, Nienke E.
van Kempen, Marjan
Brilstra, Eva H.
Lesca, Gaetan
Conti, Valerio
Guerrini, Renzo
Bisulli, Francesca
Licchetta, Laura
Pippucci, Tommaso
Tinuper, Paolo
Hirsch, Edouard
de Saint Martin, Anne
Chelly, Jamel
Rudolf, Gabrielle
Chipaux, Mathilde
Ferrand-Sorbets, Sarah
Dorfmüller, Georg
Sisodiya, Sanjay
Balestrini, Simona
Schoeler, Natasha
Hernandez-Hernandez, Laura
Krithika, S.
Oegema, Renske
Hagebeuk, Eveline
Gunning, Boudewijn
Deckers, Charles
Berghuis, Bianca
Wegner, Ilse
Niks, Erik H.
Jansen, Floor E.
Braun, Kees
de Jong, Daniëlle
Rubboli, Guido
Talvik, Inga
Sander, Valentin
Uldall, Peter
Jacquemont, Marie-Line
Nava, CarolineAff1, Aff2, Aff3, Aff4, Aff5
Leguern, EricAff1, Aff2, Aff3, Aff4, Aff5
Julia, Sophie
Gambardella, Antonio
d’Orsi, Giuseppe
Crichiutti, Giovanni
Faivre, Laurence
Darmency, Veronique
Benova, Barbora
Krsek, Pavel
Biraben, Arnaud
Lebre, Anne-Sophie
Jennesson, Mélanie
Sattar, Shifteh
Marchal, Cécile
NordliJr, Douglas R
Lindstrom, Kristin
Striano, Pasquale
Lomax, Lysa BoisséAff40, Aff41
Kiss, Courtney
Bartolomei, Fabrice
Lepine, Anne Fabienne
Schoonjans, An-Sofie
Stouffs, Katrien
Jansen, Anna
Panagiotakaki, Eleni
Ricard-Mousnier, Brigitte
Thevenon, Julien
de Bellescize, Julitta
Catenoix, Hélène
Dorn, Thomas
Zenker, Martin
Müller-Schlüter, Karen
Brandt, Christian
Krey, Ilona
Polster, Tilman
Wolff, Markus
Balci, Meral
Rostasy, Kevin
Achaz, Guillaume
Zacher, Pia
Becher, Thomas
Cloppenborg, Thomas
Yuskaitis, Christopher J.Aff58, Aff59, Aff60
Weckhuysen, Sarah
Poduri, AnnapurnaAff58, Aff59, Aff60
Lemke, Johannes R.
Møller, Rikke S.
Baulac, StéphanieAff1, Aff2, Aff3, Aff4, Aff5
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(8):1896-1896
Czasopismo naukowe

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies