Showing 1–12 of 12 results
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Research |
Structural genomic variation in childhood epilepsies with complex phenotypes
- Ingo Helbig
- , Marielle E M Swinkels
- , Emmelien Aten
- , Almuth Caliebe
- , Ruben van 't Slot
- , Rainer Boor
- , Sarah von Spiczak
- , Hiltrud Muhle
- , Johanna A Jähn
- , Ellen van Binsbergen
- , Onno van Nieuwenhuizen
- , Floor E Jansen
- , Kees P J Braun
- , Gerrit-Jan de Haan
- , Niels Tommerup
- , Ulrich Stephani
- , Helle Hjalgrim
- , Martin Poot
- , Dick Lindhout
- , Eva H Brilstra
- , Rikke S Møller
- & Bobby PC Koeleman
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Research |
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Amendments and Corrections |
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Correspondence |
Familial endometrial cancer in female carriers of MSH6 germline mutations
- Juul Wijnen
- , Wiljo de Leeuw
- , Hans Vasen
- , Heleen van der Klift
- , Pål Møller
- , Astrid Stormorken
- , Hanne Meijers-Heijboer
- , Dick Lindhout
- , Fred Menko
- , Sandra Vossen
- , Gabriela Möslein
- , Carli Tops
- , Annette Bröcker-Vriends
- , Ying Wu
- , Robert Hofstra
- , Rolf Sijmons
- , Cees Cornelisse
- , Hans Morreau
- & Riccardo Fodde
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Research |
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Research |
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
- Ingo Helbig
- , Heather C Mefford
- , Andrew J Sharp
- , Michel Guipponi
- , Marco Fichera
- , Andre Franke
- , Hiltrud Muhle
- , Carolien de Kovel
- , Carl Baker
- , Sarah von Spiczak
- , Katherine L Kron
- , Ines Steinich
- , Ailing A Kleefuß-Lie
- , Costin Leu
- , Verena Gaus
- , Bettina Schmitz
- , Karl M Klein
- , Philipp S Reif
- , Felix Rosenow
- , Yvonne Weber
- , Holger Lerche
- , Fritz Zimprich
- , Lydia Urak
- , Karoline Fuchs
- , Martha Feucht
- , Pierre Genton
- , Pierre Thomas
- , Frank Visscher
- , Gerrit-Jan de Haan
- , Rikke S Møller
- , Helle Hjalgrim
- , Daniela Luciano
- , Michael Wittig
- , Michael Nothnagel
- , Christian E Elger
- , Peter Nürnberg
- , Corrado Romano
- , Alain Malafosse
- , Bobby P C Koeleman
- , Dick Lindhout
- , Ulrich Stephani
- , Stefan Schreiber
- , Evan E Eichler
- & Thomas Sander
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Research |
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Correspondence |
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Research |
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus
- Magdalena Harakalova
- , Jasper van der Smagt
- , Carolien G F de Kovel
- , Ruben van't Slot
- , Martin Poot
- , Isaac J Nijman
- , Jelena Medic
- , Irene Joziasse
- , Jaap Deckers
- , Jolien W Roos-Hesselink
- , Marja W Wessels
- , Hubert F Baars
- , Marjan M Weiss
- , Gerard Pals
- , Lisa Golmard
- , Xavier Jeunemaitre
- , Dick Lindhout
- , Edwin Cuppen
- & Annette F Baas
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Research |
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Research | | Open
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
- Bassel Abou-Khalil
- , Pauls Auce
- , Andreja Avbersek
- , Melanie Bahlo
- , David J. Balding
- , Thomas Bast
- , Larry Baum
- , Albert J. Becker
- , Felicitas Becker
- , Bianca Berghuis
- , Samuel F. Berkovic
- , Katja E. Boysen
- , Jonathan P. Bradfield
- , Lawrence C. Brody
- , Russell J. Buono
- , Ellen Campbell
- , Gregory D. Cascino
- , Claudia B. Catarino
- , Gianpiero L. Cavalleri
- , Stacey S. Cherny
- , Krishna Chinthapalli
- , Alison J. Coffey
- , Alastair Compston
- , Antonietta Coppola
- , Patrick Cossette
- , John J. Craig
- , Gerrit-Jan de Haan
- , Peter De Jonghe
- , Carolien G. F. de Kovel
- , Norman Delanty
- , Chantal Depondt
- , Orrin Devinsky
- , Dennis J. Dlugos
- , Colin P. Doherty
- , Christian E. Elger
- , Johan G. Eriksson
- , Thomas N. Ferraro
- , Martha Feucht
- , Ben Francis
- , Andre Franke
- , Jacqueline A. French
- , Saskia Freytag
- , Verena Gaus
- , Eric B. Geller
- , Christian Gieger
- , Tracy Glauser
- , Simon Glynn
- , David B. Goldstein
- , Hongsheng Gui
- , Youling Guo
- , Kevin F. Haas
- , Hakon Hakonarson
- , Kerstin Hallmann
- , Sheryl Haut
- , Erin L. Heinzen
- , Ingo Helbig
- , Christian Hengsbach
- , Helle Hjalgrim
- , Michele Iacomino
- , Andrés Ingason
- , Jennifer Jamnadas-Khoda
- , Michael R. Johnson
- , Reetta Kälviäinen
- , Anne-Mari Kantanen
- , Dalia Kasperavičiūte
- , Dorothee Kasteleijn-Nolst Trenite
- , Heidi E. Kirsch
- , Robert C. Knowlton
- , Bobby P. C. Koeleman
- , Roland Krause
- , Martin Krenn
- , Wolfram S. Kunz
- , Ruben Kuzniecky
- , Patrick Kwan
- , Dennis Lal
- , Yu-Lung Lau
- , Anna-Elina Lehesjoki
- , Holger Lerche
- , Costin Leu
- , Wolfgang Lieb
- , Dick Lindhout
- , Warren D. Lo
- , Iscia Lopes-Cendes
- , Daniel H. Lowenstein
- , Alberto Malovini
- , Anthony G. Marson
- , Thomas Mayer
- , Mark McCormack
- , James L. Mills
- , Nasir Mirza
- , Martina Moerzinger
- , Rikke S. Møller
- , Anne M. Molloy
- , Hiltrud Muhle
- , Mark Newton
- , Ping-Wing Ng
- , Markus M. Nöthen
- , Peter Nürnberg
- , Terence J. O’Brien
- , Karen L. Oliver
- , Aarno Palotie
- , Faith Pangilinan
- , Sarah Peter
- , Slavé Petrovski
- , Annapurna Poduri
- , Michael Privitera
- , Rodney Radtke
- , Sarah Rau
- , Philipp S. Reif
- , Eva M. Reinthaler
- , Felix Rosenow
- , Josemir W. Sander
- , Thomas Sander
- , Theresa Scattergood
- , Steven C. Schachter
- , Christoph J. Schankin
- , Ingrid E. Scheffer
- , Bettina Schmitz
- , Susanne Schoch
- , Pak C. Sham
- , Jerry J. Shih
- , Graeme J. Sills
- , Sanjay M. Sisodiya
- , Lisa Slattery
- , Alexander Smith
- , David F. Smith
- , Michael C. Smith
- , Philip E. Smith
- , Anja C. M. Sonsma
- , Doug Speed
- , Michael R. Sperling
- , Bernhard J. Steinhoff
- , Ulrich Stephani
- , Remi Stevelink
- , Konstantin Strauch
- , Pasquale Striano
- , Hans Stroink
- , Rainer Surges
- , K. Meng Tan
- , Liu Lin Thio
- , G. Neil Thomas
- , Marian Todaro
- , Rossana Tozzi
- , Maria S. Vari
- , Eileen P. G. Vining
- , Frank Visscher
- , Sarah von Spiczak
- , Nicole M. Walley
- , Yvonne G. Weber
- , Zhi Wei
- , Judith Weisenberg
- , Christopher D. Whelan
- , Peter Widdess-Walsh
- , Markus Wolff
- , Stefan Wolking
- , Wanling Yang
- , Federico Zara
- & Fritz Zimprich
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Research |
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
- Clare V Logan
- , György Szabadkai
- , Jenny A Sharpe
- , David A Parry
- , Silvia Torelli
- , Anne-Marie Childs
- , Marjolein Kriek
- , Rahul Phadke
- , Colin A Johnson
- , Nicola Y Roberts
- , David T Bonthron
- , Karen A Pysden
- , Tamieka Whyte
- , Iulia Munteanu
- , A Reghan Foley
- , Gabrielle Wheway
- , Katarzyna Szymanska
- , Subaashini Natarajan
- , Zakia A Abdelhamed
- , Joanne E Morgan
- , Helen Roper
- , Gijs W E Santen
- , Erik H Niks
- , W Ludo van der Pol
- , Dick Lindhout
- , Anna Raffaello
- , Diego De Stefani
- , Johan T den Dunnen
- , Yu Sun
- , Ieke Ginjaar
- , Caroline A Sewry
- , Matthew Hurles
- , Rosario Rizzuto
- , Michael R Duchen
- , Francesco Muntoni
- & Eamonn Sheridan
