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3
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome 미리보기

학술저널

issue
In The American Journal of Human Genetics 4 January 2024 111(1):200-210
Author
Hannah, Michael G.
Bugiardini, Enrico
Bertini, Enrico
Kriouile, Yamna
El-Khorassani, Mohamed
Aguennouz, Mhammed
Groppa, Stanislav
Karashova, Blagovesta M.
Goraya, Jatinder S.
Sultan, Tipu
Avdjieva, Daniela
Kathom, Hadil
Tincheva, Radka
Banu, Selina
Veggiotti, Pierangelo
Verrotti, Alberto
Lanari, Marcello
Savasta, Salvatore
Macaya, Alfons
Garavaglia, Barbara
Borgione, Eugenia
Papacostas, Savvas
Vikelis, Michail
Chelban, Viorica
Kaiyrzhanov, Rauan
Cortese, Andrea
Sullivan, Roisin
Papanicolaou, Eleni Z.
Dardiotis, Efthymios
Maqbool, Shazia
Ibrahim, Shahnaz
Kirmani, Salman
Rana, Nuzhat N.
Atawneh, Osama
Lim, Shen-Yang
Zuccotti, Gian V.
Marseglia, Gian L.
Esposito, Susanna
Shaikh, Farooq
Cogo, Paola
Corsello, Giovanni
Mangano, Salvatore
Nardello, Rosaria
Mangano, Donato
Scardamaglia, Annarita
Koutsis, George
Scuderi, Carmela
Ferrara, Pietro
Morello, Giovanna
Zollo, Massimo
Berni-Canani, Roberto
Terracciano, Luigi M.
Sisto, Antonio
Di Fabio, Sandra
Strano, Federica
Scorrano, Giovanna
Di Bella, Saverio
Di Francesco, Ludovica
Manizha, Ganieva
Isrofilov, Maksud
Guliyeva, Ulviyya
Salayev, Kamran
Khachatryan, Samson
Xiromerisiou, Georgia
Spanaki, Cleanthe
Fiorillo, Chiara
Iacomino, Michele
Gaudio, Eugenio
Munell, Francina
Gagliano, Antonella
Jan, Farida
Chimenz, Roberto
Gitto, Eloisa
Iughetti, Lorenzo
Di Rosa, Gabriella
Maghnie, Mohamad
Pettoello-Mantovani, Massimo
Gupta, Neerja
Kabra, Madhulika
Benrhouma, Hanene
Tazir, Meriem
Bottone, Gabriella
Farello, Giovanni
Delvecchio, Maurizio
Di-Donato, Giulio
Obeid, Makram
Bakhtadze, Sophia
Saadi, Nebal W.
Miraglia-Del-Giudice, Michele
Maccarone, Rita
Zaki, Maha S.
Triki, Chahnez C.
Kara, Majdi
Karimiani, Ehsan G.
Salih, Ahmed M.
Ramenghi, Luca A.
Seri, Marco
Di-Falco, Giovanna
Mandarà, Luana
Barrano, Giuseppe
Elisa, Maurizio
Cherubini, Enrico
Operto, Francesca F.
Valenzise, Mariella
Cattaneo, Antonino
Zazzeroni, Francesca
Alesse, Edoardo
Matricardi, Sara
Zafar, Faisal
Ullah, Ehsan
Afzal, Erum
Rahman, Fatima
Ahmed, Muhammad M.
Parisi, Pasquale
Spalice, Alberto
De Filippo, Maria
Licari, Amelia
Trebbi, Edoardo
Romano, Ferdinando
Heimer, Gali
Al-Khawaja, Issam
Al-Mutairi, Fuad
Alkuraya, Fowzan S.
Rizig, Mie
Shashkin, Chingiz
Zharkynbekova, Nazira
Koneyev, Kairgali
Salpietro, Vincenzo
Maroofian, Reza
Wangen, Jamie
Ciolfi, Andrea
Barresi, Sabina
Efthymiou, Stephanie
Lamaze, Angelique
Aughey, Gabriel N.
Al Mutairi, Fuad
Rad, Aboulfazl
Rocca, Clarissa
Calì, Elisa
Accogli, Andrea
Zara, Federico
Striano, Pasquale
Mojarrad, Majid
Tariq, Huma
Giacopuzzi, Edoardo
Taylor, Jenny C.
Oprea, Gabriela
Skrahina, Volha
Rehman, Khalil Ur
Abd Elmaksoud, Marwa
Bassiony, Mahmoud
El Said, Huda G.
Abdel-Hamid, Mohamed S.
Al Shalan, Maha
Seo, Gohun
Kim, Sohyun
Lee, Hane
Khang, Rin
Issa, Mahmoud Y.
Elbendary, Hasnaa M.
Rafat, Karima
Marinakis, Nikolaos M.
Traeger-Synodinos, Joanne
Ververi, Athina
Sourmpi, Mara
Eslahi, Atieh
Khadivi Zand, Farhad
Beiraghi Toosi, Mehran
Babaei, Meisam
Jackson, Adam
Bertoli-Avella, Aida
Pagnamenta, Alistair T.
Niceta, Marcello
Battini, Roberta
Corsello, Antonio
Leoni, Chiara
Chiarelli, Francesco
Dallapiccola, Bruno
Faqeih, Eissa Ali
Tallur, Krishnaraya K.
Alfadhel, Majid
Alobeid, Eman
Maddirevula, Sateesh
Mankad, Kshitij
Banka, Siddharth
Ghayoor-Karimiani, Ehsan
Tartaglia, Marco
Chung, Wendy K.
Green, Rachel
Jepson, James E.C.
Houlden, Henry
DB Label
Database : ScienceDirect
원문보기
등재 - SCOPUS  조회 - Impact Factor (JCR)  등재 - Web of Science (SCIE) 
5
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 미리보기

정기출판물

issue
Genetics in Medicine; October 2022, Vol. 24 Issue: 10 p2194-2203, 10p
Author
Calì, Elisa
Lin, Sheng-Jia
Rocca, Clarissa
Sahin, Yavuz
Al Shamsi, Aisha
El Chehadeh, Salima
Chaabouni, Myriam
Mankad, Kshitij
Galanaki, Evangelia
Efthymiou, Stephanie
Sudhakar, Sniya
Athanasiou-Fragkouli, Alkyoni
Çelik, Tamer
Narlı, Nejat
Bianca, Sebastiano
Murphy, David
De Carvalho Moreira, Francisco Martins
Hannah, Michael G.
Bugiardini, Enrico
Kriouile, Yamna
El Khorassani, Mohamed
Aguennouz, Mhammed
Groppa, Stanislav
Karashova, Blagovesta Marinova
Di Rosa, Gabriella
Goraya, Jatinder S.
Sultan, Tipu
Avdjieva, Daniela
Kathom, Hadil
Tincheva, Radka
Banu, Selina
Veggiotti, Pierangelo
Verrotti, Alberto
Savasta, Salvatore
Ruiz, Alfons Macaya
Garavaglia, Barbara
Borgione, Eugenia
Papacostas, Savvas
Compagnoni, Chiara
Piccirilli, Alessandra
Vikelis, Michail
Chelban, Viorica
Kaiyrzhanov, Rauan
Cortese, Andrea
Sullivan, Roisin
Papanicolaou, Eleni Zamba
Dardiotis, Efthymios
Maqbool, Shazia
Ibrahim, Shahnaz
Kirmani, Salman
Rana, Nuzhat Noureen
Atawneh, Osama
Lim, Shen-Yang
Shaikh, Farooq
Scardamaglia, Annarita
Koutsis, George
Mangano, Salvatore
Scuderi, Carmela
Borgione, Eugenia
Morello, Giovanna
Zollo, Massimo
Heimer, Gali
Striano, Pasquale
Al-Khawaja, Issam
Al-Mutairi, Fuad
Alkuraya, Fowzan S.
Rizig, Mie
Shashkin, Chingiz
Zharkynbekova, Nazira
Koneyev, Kairgali
Manizha, Ganieva
Isrofilov, Maksud
Guliyeva, Ulviyya
Salayev, Kamran
Khachatryan, Samson
Xiromerisiou, Georgia
Spanaki, Cleanthe
Tucci, Arianna
Fiorillo, Chiara
Rissotto, Federico
Munell, Francina
Gagliano, Antonella
Jan, Farida
Chimenz, Roberto
Gitto, Eloisa
Cuppari, Caterina
Romeo, Carmelo
Magrinelli, Francesca
Gupta, Neerja
Kabra, Madhulika
Benrhouma, Hanene
Tazir, Meriem
Zagaroli, Luca
Caloisi, Claudia
Fabiano, Cecilia
Bottone, Gabriella
Farello, Giovanni
Di Fabio, Sandra
Obeid, Makram
Bakhtadze, Sophia
Saadi, Nebal W.
Zaki, Maha S.
Triki, Chahnez C.
Kara, Majdi
Belcastro, Vincenzo
Specchio, Nicola
Karimiani, Ehsan G.
Salih, Ahmed M.
Ramenghi, Luca A.
David, Emanuele
Curró, Riccardo
Iezzi, Maria Laura
Iapadre, Giulia
Nanni, Giuliana
Scorrano, Giovanna
Fiorile, Maria F.
Brancati, Francesco
Di Falco, Giovanna
Mandarà, Luana
Barrano, Giuseppe
Elia, Maurizio
Terrone, Gaetano
Operto, Francesca F.
Valenzise, Mariella
Della Rocca, Ylenia
Zazzeroni, Francesca
Alesse, Edoardo
Manti, Filippo
Galosi, Serena
Nardecchia, Francesca
Leuzzi, Vincenzo
Pironti, Erica
Amore, Greta
Ceravolo, Giorgia
Zafar, Faisal
Ullah, Ehsan
Afzal, Erum
Javed, Iram
Rahman, Fatima
Ahmed, Muhammad Mehboob
Parisi, Pasquale
Borgia, Paola
Mangano, Giuseppe D.
Chiarelli, Francesco
Genomics, Queen Square
Accogli, Andrea
Petree, Cassidy
Huang, Kevin
Monastiri, Kamel
Edizadeh, Masoud
Nardello, Rosaria
Ognibene, Marzia
De Marco, Patrizia
Ruggieri, Martino
Zara, Federico
Striano, Pasquale
Şahin, Yavuz
Al-Gazali, Lihadh
Abi Warde, Marie Therese
Gerard, Benedicte
Zifarelli, Giovanni
Beetz, Christian
Fortuna, Sara
Soler, Miguel
Valente, Enza Maria
Varshney, Gaurav
Maroofian, Reza
Salpietro, Vincenzo
Houlden, Henry
DB Label
Database : Supplemental Index
원문보기
Full Text (ScienceDirect O/A)  등재 - SCOPUS  조회 - Impact Factor (JCR)  등재 - Web of Science (SCIE) 
6
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination 미리보기

학술저널

issue
BRAIN; OCT 2019, 142 p2948-p2964, 17p.
Author
Efthymiou, Stephanie
Salpietro, Vincenzo
Malintan, Nancy
Poncelet, Mallory
Kriouile, Yamna
Fortuna, Sara
De Zorzi, Rita
Payne, Katelyn
Henderson, Lindsay B.
Cortese, Andrea
Maddirevula, Sateesh
Alhashmi, Nadia
Wiethoff, Sarah
Ryten, Mina
Botia, Juan A.
Provitera, Vincenzo
Schuelke, Markus
Vandrovcova, Jana
Groppa, Stanislav
Karashova, Blagovesta Marinova
Nachbauer, Wolfgang
Boesch, Sylvia
Arning, Larissa
Timmann, Dagmar
Cormand, Bru
Perez-Duenas, Belen
Goraya, Jatinder S.
Sultan, Tipu
Mine, Jun
Avdjieva, Daniela
Kathom, Hadil
Tincheva, Radka
Banu, Selina
Pineda-Marfa, Mercedes
Veggiotti, Pierangelo
Ferrari, Michel D.
van den Maagdenberg, Arn M. J. M.
Verrotti, Alberto
Marseglia, Giangluigi
Savasta, Salvatore
Garcia-Silva, Mayte
Ruiz, Alfons Macaya
Garavaglia, Barbara
Borgione, Eugenia
Portaro, Simona
Sanchez, Benigno Monteagudo
Boles, Richard
Papacostas, Savvas
Vikelis, Michail
Rothman, James
Kullmann, Dimitri
Papanicolaou, Eleni Zamba
Dardiotis, Efthymios
Maqbool, Shazia
Ibrahim, Shahnaz
Kirmani, Salman
Rana, Nuzhat Noureen
Atawneh, Osama
Lim, Shen-Yang
Shaikh, Farooq
Koutsis, George
Breza, Marianthi
Mangano, Salvatore
Scuderi, Carmela
Morello, Giovanna
Stojkovic, Tanya
Zollo, Massimo
Heimer, Gali
Dauvilliers, Yves A.
Minetti, Carlo
Al-Khawaja, Issam
Al-Mutairi, Fuad
Hamed, Sherifa
Pipis, Menelaos
Bettencourt, Conceicao
Rinaldi, Simon
Walsh, Laurence
Torti, Erin
Iodice, Valeria
Najafi, Maryam
Karimiani, Ehsan Ghayoor
Maroofian, Reza
Siquier-Pernet, Karine
Boddaert, Nathalie
De Lonlay, Pascale
Cantagrel, Vincent
Aguennouz, Mhammed
El Khorassani, Mohamed
Schmidts, Miriam
Alkuraya, Fowzan S.
Edvardson, Simon
Nolano, Maria
Devaux, Jerome
Houlden, Henry
SYNAPS Study Grp
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (OUP)  Full Text (OUP Near Archive)  등재 - SCOPUS  조회 - Impact Factor (JCR)  등재 - Web of Science 
7
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 미리보기

학술저널

issue
NATURE COMMUNICATIONS; JUL 12 2019, 10 p3094 16p.
Author
Salpietro, Vincenzo
Dixon, Christine L.
Guo, Hui
Bello, Oscar D.
Vandrovcova, Jana
Efthymiou, Stephanie
Maroofian, Reza
Heimer, Gali
Burglen, Lydie
Valence, Stephanie
Torti, Erin
Hacke, Moritz
Rankin, Julia
Tariq, Huma
Colin, Estelle
Procaccio, Vincent
Striano, Pasquale
Mankad, Kshitij
Lieb, Andreas
Chen, Sharon
Pisani, Laura
Bettencourt, Conceicao
Mannikko, Roope
Manole, Andreea
Brusco, Alfredo
Grosso, Enrico
Ferrero, Giovanni Battista
Armstrong-Moron, Judith
Gueden, Sophie
Bar-Yosef, Omer
Tzadok, Michal
Monaghan, Kristin G.
Santiago-Sim, Teresa
Person, Richard E.
Cho, Megan T.
Willaert, Rebecca
Yoo, Yongjin
Chae, Jong-Hee
Quan, Yingting
Wu, Huidan
Wang, Tianyun
Bernier, Raphael A.
Xia, Kun
Blesson, Alyssa
Jain, Mahim
Motazacker, Mohammad M.
Jaeger, Bregje
Schneider, Amy L.
Boysen, Katja
Muir, Alison M.
Myers, Candace T.
Gavrilova, Ralitza H.
Gunderson, Lauren
Schultz-Rogers, Laura
Klee, Eric W.
Dyment, David
Osmond, Matthew
Parellada, Mara
Llorente, Cloe
Gonzalez-Penas, Javier
Carracedo, Angel
Van Haeringen, Arie
Ruivenkamp, Claudia
Nava, Caroline
Heron, Delphine
Nardello, Rosaria
Iacomino, Michele
Minetti, Carlo
Skabar, Aldo
Fabretto, Antonella
Chez, Michael
Tsai, Anne
Fassi, Emily
Shinawi, Marwan
Constantino, John N.
De Zorzi, Rita
Fortuna, Sara
Kok, Fernando
Keren, Boris
Bonneau, Dominique
Choi, Murim
Benzeev, Bruria
Zara, Federico
Mefford, Heather C.
Scheffer, Ingrid E.
Clayton-Smith, Jill
Macaya, Alfons
Rothman, James E.
Eichler, Evan E.
Kullmann, Dimitri M.
Houlden, Henry
Raspall-Chaure, Miquel
Hanna, Michael G.
Bugiardini, Enrico
Hostettler, Isabel
O'Callaghan, Benjamin
Khan, Alaa
Cortese, Andrea
O'Connor, Emer
Yau, Wai Y.
Bourinaris, Thomas
Kaiyrzhanov, Rauan
Chelban, Viorica
Madej, Monika
Diana, Maria C.
Vari, Maria S.
Pedemonte, Marina
Bruno, Claudio
Balagura, Ganna
Scala, Marcello
Fiorillo, Chiara
Nobili, Lino
Malintan, Nancy T.
Zanetti, Maria N.
Krishnakumar, Shyam S.
Lignani, Gabriele
Jepson, James E. C.
Broda, Paolo
Baldassari, Simona
Rossi, Pia
Fruscione, Floriana
Madia, Francesca
Traverso, Monica
De-Marco, Patrizia
Perez-Duenas, Belen
Munell, Francina
Kriouile, Yamna
El-Khorassani, Mohamed
Karashova, Blagovesta
Avdjieva, Daniela
Kathom, Hadil
Tincheva, Radka
Van-Maldergem, Lionel
Nachbauer, Wolfgang
Boesch, Sylvia
Gagliano, Antonella
Amadori, Elisabetta
Goraya, Jatinder S.
Sultan, Tipu
Kirmani, Salman
Ibrahim, Shahnaz
Jan, Farida
Mine, Jun
Banu, Selina
Veggiotti, Pierangelo
Zuccotti, Gian, V
Ferrari, Michel D.
Van Den Maagdenberg, Arn M. J.
Verrotti, Alberto
Marseglia, Gian L.
Savasta, Salvatore
Soler, Miguel A.
Scuderi, Carmela
Borgione, Eugenia
Chimenz, Roberto
Gitto, Eloisa
Dipasquale, Valeria
Sallemi, Alessia
Fusco, Monica
Cuppari, Caterina
Cutrupi, Maria C.
Ruggieri, Martino
Cama, Armando
Capra, Valeria
Mencacci, Niccolo E.
Boles, Richard
Gupta, Neerja
Kabra, Madhulika
Papacostas, Savvas
Zamba-Papanicolaou, Eleni
Dardiotis, Efthymios
Maqbool, Shazia
Rana, Nuzhat
Atawneh, Osama
Lim, Shen Y.
Shaikh, Farooq
Koutsis, George
Breza, Marianthi
Coviello, Domenico A.
Dauvilliers, Yves A.
AlKhawaja, Issam
AlKhawaja, Mariam
Al-Mutairi, Fuad
Stojkovic, Tanya
Ferrucci, Veronica
Zollo, Massimo
Alkuraya, Fowzan S.
Kinali, Maria
Sherifa, Hamed
Benrhouma, Hanene
Turki, Ilhem B. Y.
Tazir, Meriem
Obeid, Makram
Bakhtadze, Sophia
Saadi, Nebal W.
Zaki, Maha S.
Triki, Chahnez C.
Benfenati, Fabio
Gustincich, Stefano
Kara, Majdi
Belcastro, Vincenzo
Specchio, Nicola
Capovilla, Giuseppe
Karimiani, Ehsan G.
Salih, Ahmed M.
Okubadejo, Njideka U.
Ojo, Oluwadamilola O.
Oshinaike, Olajumoke O.
Oguntunde, Olapeju
Wahab, Kolawole
Bello, Abiodun H.
Abubakar, Sanni
Obiabo, Yahaya
Nwazor, Ernest
Ekenze, Oluchi
Williams, Uduak
Iyagba, Alagoma
Taiwo, Lolade
Komolafe, Morenikeji
Senkevich, Konstantin
Shashkin, Chingiz
Zharkynbekova, Nazira
Koneyev, Kairgali
Manizha, Ganieva
Isrofilov, Maksud
Guliyeva, Ulviyya
Salayev, Kamran
Khachatryan, Samson
Rossi, Salvatore
Silvestri, Gabriella
Haridy, Nourelhoda
Ramenghi, Luca A.
Xiromerisiou, Georgia
David, Emanuele
Aguennouz, Mhammed
Fidani, Liana
Spanaki, Cleanthe
Tucci, Arianna
SYNAPS Study Grp
DB Label
Database : Science Citation Index Expanded
원문보기
OA (Springer)  OA (Nature)  등재 - SCOPUS  조회 - Impact Factor (JCR)  등재 - Web of Science 
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