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1
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration 미리보기

학술저널

issue
In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376
Author
Pochiero, Francesca
Mari, Francesco
Ramesh, Venkateswaran
Capra, Valeria
Mancardi, Margherita
Keren, Boris
Mignot, Cyiril
Lulli, Matteo
Parks, Kendall
Griffin, Helen
Brugger, Melanie
Nigro, Vincenzo
Hirata, Yuko
Koichihara, Reiko
Peterlin, Borut
Maki, Ryuto
Nitta, Yohei
Ambrose, John C.
Arumugam, Prabhu
Bevers, Roel
Bleda, Marta
Boardman-Pretty, Freya
Boustred, Christopher R.
Brittain, Helen
Brown, Matthew A.
Caulfield, Mark J.
Chan, Georgia C.
Giess, Adam
Griffin, John N.
Hamblin, Angela
Henderson, Shirley
Hubbard, Tim J.P.
Jackson, Rob
Jones, Louise J.
Kasperaviciute, Dalia
Kayikci, Melis
Kousathanas, Athanasios
Lahnstein, Lea
Lakey, Anna
Leigh, Sarah E.A.
Leong, Ivonne U.S.
Lopez, Javier F.
Maleady-Crowe, Fiona
McEntagart, Meriel
Minneci, Federico
Mitchell, Jonathan
Moutsianas, Loukas
Mueller, Michael
Murugaesu, Nirupa
Need, Anna C.
O’Donovan, Peter
Odhams, Chris A.
Patch, Christine
Perez-Gil, Daniel
Pereira, Marina B.
Pullinger, John
Rahim, Tahrima
Rendon, Augusto
Rogers, Tim
Savage, Kevin
Sawant, Kushmita
Scott, Richard H.
Siddiq, Afshan
Sieghart, Alexander
Smith, Samuel C.
Sosinsky, Alona
Stuckey, Alexander
Tanguy, Mélanie
Taylor Tavares, Ana Lisa
Thomas, Ellen R.A.
Thompson, Simon R.
Tucci, Arianna
Welland, Matthew J.
Williams, Eleanor
Witkowska, Katarzyna
Wood, Suzanne M.
Zarowiecki, Magdalena
Vetro, Annalisa
Pelorosso, Cristiana
Balestrini, Simona
Masi, Alessio
Hambleton, Sophie
Argilli, Emanuela
Conti, Valerio
Giubbolini, Simone
Barrick, Rebekah
Bergant, Gaber
Writzl, Karin
Bijlsma, Emilia K.
Brunet, Theresa
Cacheiro, Pilar
Mei, Davide
Devlin, Anita
Hoffer, Mariëtte J.V.
Machol, Keren
Mannaioni, Guido
Sakamoto, Masamune
Menezes, Manoj P.
Courtin, Thomas
Sherr, Elliott
Parra, Riccardo
Richardson, Ruth
Roscioli, Tony
Scala, Marcello
von Stülpnagel, Celina
Smedley, Damian
Torella, Annalaura
Tohyama, Jun
Hamada, Keisuke
Ogata, Kazuhiro
Suzuki, Takashi
Sugie, Atsushi
van der Smagt, Jasper J.
van Gassen, Koen
Valence, Stephanie
Vittery, Emma
Malone, Stephen
Kato, Mitsuhiro
Matsumoto, Naomichi
Ratto, Gian Michele
Guerrini, Renzo
DB Label
Database : ScienceDirect
원문보기
Full Text (ScienceDirect O/A)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
2
Managing Epilepsy in Low Resource Settings 미리보기

전자책

issue
Child Refugee and Migrant Health : A Manual for Health Professionals. :425-440
Author
Ramesh, VenkateswaranAff4
DB Label
Database : Springer Nature eBooks
원문보기
8
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 미리보기

학술저널

issue
American Journal Of Medical Genetics - A. Feb 01, 2015 167(2):296-312
Author
Crow, Yanick J.
Chase, Diana S.
Schmidt, Johanna Lowenstein
Szynkiewicz, Marcin
Forte, Gabriella M.A.
Gornall, Hannah L.
Oojageer, Anthony
Anderson, Beverley
Pizzino, Amy
Helman, Guy
Abdel-Hamid, Mohamed S.
Abdel-Salam, Ghada M.
Ackroyd, Sam
Aeby, Alec
Agosta, Guillermo
Albin, Catherine
Allon-Shalev, Stavit
Arellano, Montse
Ariaudo, Giada
Aswani, Vijay
Babul-Hirji, Riyana
Baildam, Eileen M.
Bahi-Buisson, Nadia
Bailey, Kathryn M.
Barnerias, Christine
Barth, Magalie
Battini, Roberta
Beresford, Michael W.
Bernard, Geneviève
Bianchi, Marika
de Villemeur, Thierry Billette
Blair, Edward M.
Bloom, Miriam
Burlina, Alberto B.
Carpanelli, Maria Luisa
Carvalho, Daniel R.
Castro-Gago, Manuel
Cavallini, Anna
Cereda, Cristina
Chandler, Kate E.
Chitayat, David A.
Collins, Abigail E.
Corcoles, Concepcion Sierra
Cordeiro, Nuno J.V.
Crichiutti, Giovanni
Dabydeen, Lyvia
Dale, Russell C.
DArrigo, Stefano
De Goede, Christian G.E.L.
De Laet, Corinne
De Waele, Liesbeth M.H.
Denzler, Ines
Desguerre, Isabelle
Devriendt, Koenraad
Di Rocco, Maja
Fahey, Michael C.
Fazzi, Elisa
Ferrie, Colin D.
Figueiredo, António
Gener, Blanca
Goizet, Cyril
Gowrinathan, Nirmala R.
Gowrishankar, Kalpana
Hanrahan, Donncha
Isidor, Bertrand
Kara, Bülent
Khan, Nasaim
King, Mary D.
Kirk, Edwin P.
Kumar, Ram
Lagae, Lieven
Landrieu, Pierre
Lauffer, Heinz
Laugel, Vincent
Piana, Roberta La
Lim, Ming J.
Lin, Jean-Pierre S.-M.
Linnankivi, Tarja
Mackay, Mark T.
Marom, Daphna R.
Lourenço, Charles Marques
McKee, Shane A.
Moroni, Isabella
Morton, Jenny E.V.
Moutard, Marie-Laure
Murray, Kevin
Nabbout, Rima
Nampoothiri, Sheela
Nunez-Enamorado, Noemi
Oades, Patrick J.
Olivieri, Ivana
Ostergaard, John R.
Pérez-Dueñas, Belén
Prendiville, Julie S.
Ramesh, Venkateswaran
Rasmussen, Magnhild
Régal, Luc
Ricci, Federica
Rio, Marlène
Rodriguez, Diana
Roubertie, Agathe
Salvatici, Elisabetta
Segers, Karin A.
Sinha, Gyanranjan P.
Soler, Doriette
Spiegel, Ronen
Stödberg, Tommy I.
Straussberg, Rachel
Swoboda, Kathryn J.
Suri, Mohnish
Tacke, Uta
Tan, Tiong Y.
te Water Naude, Johann
Teik, Keng Wee
Thomas, Maya Mary
Till, Marianne
Tonduti, Davide
Valente, Enza Maria
Van Coster, Rudy Noel
van der Knaap, Marjo S.
Vassallo, Grace
Vijzelaar, Raymon
Vogt, Julie
Wallace, Geoffrey B.
Wassmer, Evangeline
Webb, Hannah J.
Whitehouse, William P.
Whitney, Robyn N.
Zaki, Maha S.
Zuberi, Sameer M.
Livingston, John H.
Rozenberg, Flore
Lebon, Pierre
Vanderver, Adeline
Orcesi, Simona
Rice, Gillian I.
DB Label
Database : Journals@OVID
원문보기
Full Text (Wiley-DB)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR)  원문복사신청 - RISS 
10
Diagnostic lumbar puncture in suspected acute bacterial meningitis: avoiding catastrophe 미리보기

학술저널

issue
Developmental Medicine & Child Neurology. Dec 01, 2013 55(12):1068-1068
Author
Ramesh, Venkateswaran
DB Label
Database : Journals@OVID
원문보기
Full Text (Wiley-DB)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
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