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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...American journal of human genetics, 2014-02, Vol.94 (2), p.209-222
2014
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Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy
2018
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Brain (London, England : 1878), 2014-02, Vol.137 (Pt 2), p.366-379
- BAKER, Peter R
- FRIEDERICH, Marisa W
- LEE, Wang-Tso
- DESHPANDE, Charu
- FRECKMANN, Mary-Louise
- SHIH, Ling-Yu
- WASSERSTEIN, Melissa
- RASMUSSEN, Malene B
- LUND, Allan M
- PROCOPIS, Peter
- CAMERON, Jessie M
- ROBINSON, Brian H
- SWANSON, Michael A
- BROWN, Garry K
- BROWN, Ruth M
- COMPTON, Alison G
- DIECKMANN, Carol L
- COLLARD, Renata
- COUGHLIN, Curtis R
- SPECTOR, Elaine
- WEMPE, Michael F
- VAN HOVE, Johan L. K
- SHAIKH, Tamim
- BHATTACHARYA, Kaustuv
- SCHARER, Gunter H
- AICHER, Joseph
- CREADON-SWINDELL, Geralyn
- GEIGER, Elizabeth
- MACLEAN, Kenneth N
2014
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Brain (London, England : 1878), 2019-01, Vol.142 (1), p.50-58
- Van Bergen, Nicole J
- Guo, Yiran
- Rankin, Julia
- Paczia, Nicole
- Becker-Kettern, Julia
- Kremer, Laura S
- Pyle, Angela
- Conrotte, Jean-François
- Ellaway, Carolyn
- Procopis, Peter
- Prelog, Kristina
- Homfray, Tessa
- Baptista, Júlia
- Baple, Emma
- Wakeling, Matthew
- Massey, Sean
- Kay, Daniel P
- Shukla, Anju
- Girisha, Katta M
- Lewis, Leslie E S
- Santra, Saikat
- Power, Rachel
- Daubeney, Piers
- Montoya, Julio
- Ruiz-Pesini, Eduardo
- Kovacs-Nagy, Reka
- Pritsch, Martin
- Ahting, Uwe
- Thorburn, David R
- Prokisch, Holger
- Taylor, Robert W
- Christodoulou, John
- Linster, Carole L
- Ellard, Sian
- Hakonarson, Hakon
2019
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Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.465-12, Article 465
2021
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Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice
- Scheffer, Ingrid E.
- Bennett, Caitlin A.
- Gill, Deepak
- Silva, Michelle G.
- Boggs, Kirsten
- Marum, Justine
- Baker, Naomi
- Palmer, Elizabeth E.
- Howell, Katherine B.
- Andrews, Ian
- Antony, Jayne
- Ardern‐Holmes, Simone
- Bye, Ann M
- Cardamone, Michael
- Chelakkadan, Shabeed
- Clark, Damian
- Curnow, Sarah R
- Dabscheck, Gabriel
- Fahey, Michael C
- Freeman, Jeremy L
- Gupta, Sachin
- Harvey, A Simon
- Hildebrand, Michael S
- Inder, Marie
- Kanhangad, Manoj
- Kornberg, Andrew J
- Kothur, Kavitha
- Lawson, John A
- Leventer, Richard J
- Malone, Stephen
- Menezes, Manoj P
- Mohammad, Shekeeb
- Nagarajan, Lakshmi
- Pillai, Sekhar
- Pridmore, Clair
- Procopis, Peter G
- Sampaio, Hugo
- Silberstein, Jonathon
- Sinclair, Adriane
- Smith, Nicholas
- Subramanian, Gopinath
- Troedson, Christopher
- Ware, Tyson
- White, Susan M
2023
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Human mutation, 2019-07, Vol.40 (7), p.893-898
2019
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Neuromuscular disorders : NMD, 2000-08, Vol.10 (6), p.398-406
2000
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Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.465
2021
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Mitochondrion, 2011-01, Vol.11 (1), p.104-107
2011
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Developmental medicine and child neurology, 2019-09, Vol.61 (9), p.1108-1116
- Tantsis, Esther M
- Prelog, Kristina
- Alper, Gulay
- Benson, Leslie
- Gorman, Mark
- Lim, Ming
- Mohammad, Shekeeb S
- Ramanathan, Sudarshini
- Brilot, Fabienne
- Dale, Russell C
- Antony, Jayne
- Ardern‐Holmes, Simone
- Banwell, Brenda
- Camposano, Susana
- Gill, Deepak
- Hopkins, Sarah
- Menezes, Manoj
- Nosadini, Margherita
- Ouvrier, Robert
- Procopis, Peter
- Riney, Kate
- Webster, Richard
2019
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Pediatrics (Evanston), 2015-04, Vol.135 (4), p.e974-e984
- Pillai, Sekhar C
- Hacohen, Yael
- Tantsis, Esther
- Prelog, Kristina
- Merheb, Vera
- Kesson, Alison
- Barnes, Elizabeth
- Gill, Deepak
- Webster, Richard
- Menezes, Manoj
- Ardern-Holmes, Simone
- Gupta, Sachin
- Procopis, Peter
- Troedson, Christopher
- Antony, Jayne
- Ouvrier, Robert A
- Polfrit, Yann
- Davies, Nicholas W S
- Waters, Patrick
- Lang, Bethan
- Lim, Ming J
- Brilot, Fabienne
- Vincent, Angela
- Dale, Russell C
2015
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Epilepsia (Copenhagen), 2019-05, Vol.60 (5), p.830-844
- Johannesen, Katrine M.
- Gardella, Elena
- Encinas, Alejandra C.
- Lehesjoki, Anna‐Elina
- Linnankivi, Tarja
- Petersen, Michael B.
- Lund, Ida Charlotte Bay
- Blichfeldt, Susanne
- Miranda, Maria J.
- Pal, Deb K.
- Lascelles, Karine
- Procopis, Peter
- Orsini, Alessandro
- Bonuccelli, Alice
- Giacomini, Thea
- Helbig, Ingo
- Fenger, Christina D.
- Sisodiya, Sanjay M.
- Hernandez‐Hernandez, Laura
- Krithika, Sundararaman
- Rumple, Melissa
- Masnada, Silvia
- Valente, Marialuisa
- Cereda, Cristina
- Giordano, Lucio
- Accorsi, Patrizia
- Bürki, Sarah E.
- Mancardi, Margherita
- Korff, Christian
- Guerrini, Renzo
- Spiczak, Sarah
- Hoffman‐Zacharska, Dorota
- Mazurczak, Tomasz
- Coppola, Antonietta
- Buono, Salvatore
- Vecchi, Marilena
- Hammer, Michael F.
- Varesio, Costanza
- Veggiotti, Pierangelo
- Lal, Dennis
- Brünger, Tobias
- Zara, Federico
- Striano, Pasquale
- Rubboli, Guido
- Møller, Rikke S.
2019
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Pediatric neurology, 2007-10, Vol.37 (4), p.283-286
2007
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Epilepsia (Copenhagen), 2013-12, Vol.54 (12), p.2091-2100
2013
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Brain (London, England : 1878), 2019-01, Vol.142 (1), p.50-58
- Van Bergen, Nicole J
- Guo, Yiran
- Rankin, Julia
- Paczia, Nicole
- Becker-Kettern, Julia
- Kremer, Laura S
- Pyle, Angela
- Conrotte, Jean-François
- Ellaway, Carolyn
- Procopis, Peter
- Prelog, Kristina
- Homfray, Tessa
- Baptista, Júlia
- Baple, Emma
- Wakeling, Matthew
- Massey, Sean
- Kay, Daniel P
- Shukla, Anju
- Girisha, Katta M
- Lewis, Leslie E S
- Santra, Saikat
- Power, Rachel
- Daubeney, Piers
- Montoya, Julio
- Ruiz-Pesini, Eduardo
- Kovacs-Nagy, Reka
- Pritsch, Martin
- Ahting, Uwe
- Thorburn, David R
- Prokisch, Holger
- Taylor, Robert W
- Christodoulou, John
- Linster, Carole L
- Ellard, Sian
- Hakonarson, Hakon
2019
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European journal of paediatric neurology, 2015-05, Vol.19 (3), p.377-382
2015
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Developmental medicine and child neurology, 2002-07, Vol.44 (7), p.435-435
2002
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Canadian Medical Association journal, 2008-09, Vol.179 (6), p.525-533
2008
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Pediatric neurology, 1999-09, Vol.21 (3), p.669-673
1999
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Movement disorders clinical practice (Hoboken, N.J.), 2024-01, Vol.11 (1), p.76-85
2024
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Pediatric neurology, 2000-08, Vol.23 (2), p.180-184
2000
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Epilepsia (Copenhagen), 2019-05, Vol.60 (5), p.830-844
- Johannesen, Katrine M.
- Gardella, Elena
- Encinas, Alejandra C.
- Lehesjoki, Anna‐Elina
- Linnankivi, Tarja
- Petersen, Michael B.
- Lund, Ida Charlotte Bay
- Blichfeldt, Susanne
- Miranda, Maria J.
- Pal, Deb K.
- Lascelles, Karine
- Procopis, Peter
- Orsini, Alessandro
- Bonuccelli, Alice
- Giacomini, Thea
- Helbig, Ingo
- Fenger, Christina D.
- Sisodiya, Sanjay M.
- Hernandez‐Hernandez, Laura
- Krithika, Sundararaman
- Rumple, Melissa
- Masnada, Silvia
- Valente, Marialuisa
- Cereda, Cristina
- Giordano, Lucio
- Accorsi, Patrizia
- Bürki, Sarah E.
- Mancardi, Margherita
- Korff, Christian
- Guerrini, Renzo
- von Spiczak, Sarah
- Hoffman‐Zacharska, Dorota
- Mazurczak, Tomasz
- Coppola, Antonietta
- Buono, Salvatore
- Vecchi, Marilena
- Hammer, Michael F.
- Varesio, Costanza
- Veggiotti, Pierangelo
- Lal, Dennis
- Brünger, Tobias
- Zara, Federico
- Striano, Pasquale
- Rubboli, Guido
- Møller, Rikke S.
2019
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Neurology. Genetics, 2019-12, Vol.5 (6), p.e367-e367
2019
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Developmental medicine and child neurology, 2002-07, Vol.44 (7), p.435-435
2002
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