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Wyszukujesz frazę ""Symonds, Joseph D."" wg kryterium: Autor


Tytuł :
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
Autorzy :
Stamberger, HannahAff1, Aff2
Hammer, Trine B.Aff3, Aff4
Gardella, ElenaAff3, Aff5
Vlaskamp, Danique R. M.Aff1, Aff6, Aff7
Bertelsen, Birgitte
Mandelstam, SimoneAff9, Aff10, Aff11, Aff12, Aff13
de Lange, Iris
Zhang, Jing
Myers, Candace T.
Fenger, Christina
Afawi, Zaid
Almanza Fuerte, Edith P.
Andrade, Danielle M.
Balcik, Yunus
Ben Zeev, BruriaAff20, Aff21
Bennett, Mark F.Aff1, Aff22, Aff23
Berkovic, Samuel F.
Isidor, Bertrand
Bouman, Arjan
Brilstra, Eva
Busk, Øyvind L.
Cairns, Anita
Caumes, Roseline
Chatron, Nicolas
Dale, Russell C.
de Geus, Christa
Edery, PatrickAff29, Aff32
Gill, Deepak
Granild-Jensen, Jacob Bie
Gunderson, Lauren
Gunning, Boudewijn
Heimer, GaliAff20, Aff21
Helle, Johan R.
Hildebrand, Michael S.Aff1, Aff10
Hollingsworth, Georgie
Kharytonov, Volodymyr
Klee, Eric W.Aff34, Aff37
Koeleman, Bobby P. C.
Koolen, David A.
Korff, Christian
Küry, Sébastien
Lesca, Gaetan
Lev, DoritAff21, Aff40
Leventer, Richard J.Aff9, Aff10, Aff11
Mackay, Mark T.Aff9, Aff10, Aff11
Macke, Erica L.
McEntagart, Meriel
Mohammad, Shekeeb S.
Monin, Pauline
Montomoli, Martino
Morava, EvaAff34, Aff37
Moutton, SebastienAff43, Aff44
Muir, Alison M.
Parrini, Elena
Procopis, PeterAff30, Aff45
Ranza, Emmanuelle
Reed, Laura
Reif, Philipp S.
Rosenow, Felix
Rossi, MassimilianoAff29, Aff32
Sadleir, Lynette G.
Sadoway, Tara
Schelhaas, Helenius J.
Schneider, Amy L.
Shah, Krati
Shalev, Ruth
Sisodiya, Sanjay M.
Smol, Thomas
Stumpel, Connie T. R. M.
Stuurman, Kyra
Symonds, Joseph D.Aff54, Aff55
Mau-Them, Frederic TranAff56, Aff57
Verbeek, Nienke
Verhoeven, Judith S.
Wallace, GeoffreyAff27, Aff59
Yosovich, Keren
Zarate, Yuri A.
Zerem, AyeletAff21, Aff62
Zuberi, Sameer M.Aff54, Aff55
Guerrini, Renzo
Mefford, Heather C.
Patel, Chirag
Zhang, Yue-Hua
Møller, Rikke S.Aff3, Aff5
Scheffer, Ingrid E.Aff1, Aff9, Aff10, Aff11, Aff13
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(2):363-373
Czasopismo naukowe
Tytuł :
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice
Autorzy :
Brunklaus, Andreas
Du, Juanjiangmeng
Steckler, Felix
Ghanty, Ismael I.
Johannesen, Katrine M.
Fenger, Christina Dühring
Schorge, Stephanie
Baez-Nieto, David
Wang, Hao Ran
Allen, Andrew
Pan, Jen Q.
Lerche, Holger
Heyne, Henrike
Symonds, Joseph D.
Zuberi, Sameer M.
Sanders, Stephan
Sheidley, Beth R.
Craiu, Dana
Olson, Heather E.
Weckhuysen, Sarah
DeJonge, Peter
Helbig, Ingo
Van Esch, Hilde
Busa, Tiffany
Milh, Matthieu
Isidor, Bertrand
Depienne, Christel
Poduri, Annapurna
Campbell, Arthur J.
Dimidschstein, Jordane
Møller, Rikke S.
Lal, Dennis
Pokaż więcej
Temat :
epilepsy
neurodevelopmental disorders
SCN1A
SCN2A
SCN3A
SCN8A
Źródło :
Brunklaus, A, Du, J, Steckler, F, Ghanty, I I, Johannesen, K M, Fenger, C D, Schorge, S, Baez-Nieto, D, Wang, H R, Allen, A, Pan, J Q, Lerche, H, Heyne, H, Symonds, J D, Zuberi, S M, Sanders, S, Sheidley, B R, Craiu, D, Olson, H E, Weckhuysen, S, DeJonge, P, Helbig, I, Van Esch, H, Busa, T, Milh, M, Isidor, B, Depienne, C, Poduri, A, Campbell, A J, Dimidschstein, J, Møller, R S & Lal, D 2020, ' Biological concepts in human sodium channel epilepsies and their relevance in clinical practice ', Epilepsia, vol. 61, no. 3, pp. 387-399 . https://doi.org/10.1111/epi.16438
Tytuł :
Incidence and phenotypes of childhood-onset genetic epilepsies:a prospective population-based national cohort
Autorzy :
Symonds, Joseph D
Zuberi, Sameer M
McLellan, Ailsa
O'Regan, Mary
MacLeod, Stewart
Jollands, Alice
Joss, Shelagh
Kirkpatrick, Martin
Brunklaus, Andreas
Pilz, Daniela T
Shetty, Jay
Dorris, Liam
Abu-Arafeh, Ishaq
Andrew, Jamie
Brink, Philip
Callaghan, Mary
Cruden, Jamie
Diver, Louise A
Findlay, Christine
Gardiner, Sarah
Grattan, Rosemary
Lang, Bethan
MacDonnell, Jane
McKnight, Jean
Morrison, Calum A
Nairn, Lesley
Slean, Meghan M
Stephen, Elma
Webb, Alan
Vincent, Angela
Wilson, Margaret
Pokaż więcej
Źródło :
Symonds, J D, Zuberi, S M, McLellan, A, O'Regan, M, MacLeod, S, Jollands, A, Joss, S, Kirkpatrick, M, Brunklaus, A, Pilz, D T, Shetty, J, Dorris, L, Abu-Arafeh, I, Andrew, J, Brink, P, Callaghan, M, Cruden, J, Diver, L A, Findlay, C, Gardiner, S, Grattan, R, Lang, B, MacDonnell, J, McKnight, J, Morrison, C A, Nairn, L, Slean, M M, Stephen, E, Webb, A, Vincent, A & Wilson, M 2019, ' Incidence and phenotypes of childhood-onset genetic epilepsies : a prospective population-based national cohort ', Brain, vol. 142, no. 8, pp. 2303-2318 . https://doi.org/10.1093/brain/awz195
Opis pliku :
application/pdf
Tytuł :
Neurodevelopmental outcome at 5 years of age after general anaesthesia or awake-regional anaesthesia in infancy (GAS) : an international, multicentre, randomised, controlled equivalence trial
Autorzy :
Mccann, Mary Ellen
De Graaff, Jurgen C
Dorris, Liam
Disma, Nicola
Withington, Davinia
Bell, Graham
Grobler, Anneke
Stargatt, Robyn
Hunt, Rodney W
Sheppard, Suzette J
Marmor, Jacki
Giribaldi, Gaia
Bellinger, David
Hartmann, Penelope L
Hardy, Pollyanna
Frawley, Geoff
Izzo, Francesca
Von Ungern-sternberg, Britta
Lynn, Anne
Wilton, Niall
Mueller, Martin
Polaner, David M
Absalom, Anthony R
Szmuk, Peter
Morton, Neil S
Berde, Charles
Soriano, Sulpicio
Davidson, Andrew J
Arnup, Sarah
Lee, Katherine
Hunt, Rod W
Ormond, Gillian D
Takagi, Michael J
Taylor, Kaitlyn
Malarbi, Stephanie
Doyle, Melissa
Ragg, Philip
Costi, David
Wilton, Niall C
Knottenbelt, Graham
Furue, Koto
Gagnon, Hélène
Mameli, Leila
Pini Prato, Alessio
Mattioli, Girolamo
Wolfler, Andrea
Bova, Stefania M
Krachmalnicoff, Arianna
Guuva, Claudia
Van Der Werff, Desiree Bm
Van Gool, Jose Tdg
Van Loon, Kim
Kalkman, Cor J
Van Baar, Anneloes L
Hoekstra, Frouckje M
Volkers, Martin
Oostra, Martine
Pownall, Jaycee
Waldman, Jack
Hind, Ruth
Symonds, Joseph D
Bagshaw, Oliver
Sethna, Navil
Kovatsis, Pete
Cravero, Joseph
Ivanova, Iskra
Hunyady, Agnes
Verma, Shilpa
Polaner, David
Thomas, Joss
Haret, Denisa
Steiner, Jeffrey
Kravitz, Brian
Farrow-gillespie, Alan
Suresh, Santhanam
Hays, Stephen
Taenzer, Andreas
Maxwell, Lynne
Williams, Robert
Pokaż więcej
Źródło :
The Lancet, 393(10172), 664
Opis pliku :
image/pdf
Tytuł :
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
Autorzy :
Gregor, Anne
Sadleir, Lynette G.
Asadollahi, Reza
Azzarello-Burri, Silvia
Battaglia, Agatino
Ousager, Lilian Bomme
Boonsawat, Paranchai
Bruel, Ange Line
Buchert, Rebecca
Calpena, Eduardo
Cogné, Benjamin
Dallapiccola, Bruno
Distelmaier, Felix
Elmslie, Frances
Faivre, Laurence
Haack, Tobias B.
Harrison, Victoria
Henderson, Alex
Hunt, David
Isidor, Bertrand
Joset, Pascal
Kumada, Satoko
Lachmeijer, Augusta M.A.
Lees, Melissa
Lynch, Sally Ann
Martinez, Francisco
Matsumoto, Naomichi
McDougall, Carey
Mefford, Heather C.
Miyake, Noriko
Myers, Candace T.
Moutton, Sébastien
Nesbitt, Addie
Novelli, Antonio
Orellana, Carmen
Rauch, Anita
Rosello, Monica
Saida, Ken
Santani, Avni B.
Sarkar, Ajoy
Scheffer, Ingrid E.
Shinawi, Marwan
Steindl, Katharina
Symonds, Joseph D.
Zackai, Elaine H.
Reis, André
Sticht, Heinrich
Zweier, Christiane
Pokaż więcej
Temat :
Genetics(clinical)
Genetics
neurodevelopmental disorder
FBXO11
Report
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
intellectual disability
Źródło :
American Journal of Human Genetics
University of Washington Center for Mendelian Genomics 2018, ' De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder ', American Journal of Human Genetics, vol. 103, no. 2, pp. 305-316 . https://doi.org/10.1016/j.ajhg.2018.07.003
American Journal of Human Genetics, 103(2), 305. Cell Press
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (2), pp.305-316. ⟨10.1016/j.ajhg.2018.07.003⟩
Opis pliku :
image/pdf; application/pdf
Tytuł :
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases
Autorzy :
Joss, Shelagh.
Metcalfe, Kay A..
Somarathi, Suresh.
Cruden, Jamie.
Devlin, Anita M..
Donaldson, Alan.
DiDonato, Nataliya.
Fitzpatrick, David.
Kaiser, Frank J..
Lampe, Anne K..
Lees, Melissa M..
McLellan, Ailsa.
Montgomery, Tara.
Mundada, Vivek.
Nairn, Lesley.
Sarkar, Ajoy.
Schallner, Jens.
Pozojevic, J.elena.
Parenti, Ilaria.
Tan, Jeen.
Turnpenny, Peter.
Whitehouse, William P..
Zuberi, Sameer M..
Symonds, Joseph D..
Pokaż więcej
Temat :
Journal Article
Źródło :
Symonds, J D, Joss, S, Metcalfe, K A, Somarathi, S, Cruden, J, Devlin, A M, Donaldson, A, DiDonato, N, Fitzpatrick, D, Kaiser, F J, Lampe, A K, Lees, M M, McLellan, A, Montgomery, T, Mundada, V, Nairn, L, Sarkar, A, Schallner, J, Pozojevic, J, Parenti, I, Tan, J, Turnpenny, P, Whitehouse, W P, Zuberi, S M 2017, ' Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females : Detailed phenotyping of 10 new cases ', Epilepsia, vol. 58, no. 4, pp. 565-575 . https://doi.org/10.1111/epi.13669
Opis pliku :
Other; application/vnd.openxmlformats-officedocument.wordprocessingml.document; message/rfc822; application/pdf

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