Showing 1–16 of 16 results
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Research | | Open
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
- Simone Schröder
- , Yun Li
- , Gökhan Yigit
- , Janine Altmüller
- , Ingrid Bader
- , Andrea Bevot
- , Saskia Biskup
- , Steffi Dreha-Kulaczewski
- , G. Christoph Korenke
- , Raimund Kottke
- , Johannes A. Mayr
- , Martin Preisel
- , Sandra P. Toelle
- , Sarah Wente-Schulz
- , Saskia B. Wortmann
- , Heidi Hahn
- , Eugen Boltshauser
- , Anja Uhmann
- , Bernd Wollnik
- & Knut Brockmann
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Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study
- Sümeyye Cöktü
- , Claudia Spix
- , Melanie Kaiser
- , Jasmin Beygo
- , Stephanie Kleinle
- , Nadine Bachmann
- , Nicolai Kohlschmidt
- , Dirk Prawitt
- , Alf Beckmann
- , Ruediger Klaes
- , Claudia Nevinny-Stickel-Hinzpeter
- , Steffi Döhnert
- , Cornelia Kraus
- , Gundula Kadgien
- , Inga Vater
- , Saskia Biskup
- , Michael Kutsche
- , Jürgen Kohlhase
- , Thomas Eggermann
- , Martin Zenker
- & Christian P. Kratz
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Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
- Dominic Lenz
- , Desirée E. C. Smith
- , Ellen Crushell
- , Ralf A. Husain
- , Gajja S. Salomons
- , Bader Alhaddad
- , Jonathan A. Bernstein
- , Alyssa Bianzano
- , Saskia Biskup
- , Heiko Brennenstuhl
- , Dominique Caldari
- , Nicola Dikow
- , Tobias B. Haack
- , Andrea Hanson-Kahn
- , Inga Harting
- , Denise Horn
- , Joanne Hughes
- , Maya Huijberts
- , Bertrand Isidor
- , Simone Kathemann
- , Robert Kopajtich
- , Urania Kotzaeridou
- , Sébastien Küry
- , Elke Lainka
- , Lucia Laugwitz
- , James R. Lupski
- , Jennifer E. Posey
- , Claire Reynolds
- , Jill A. Rosenfeld
- , Julian Schröter
- , Fleur Vansenne
- , Matias Wagner
- , Claudia Weiß
- , Bruce H. R. Wolffenbuttel
- , Saskia B. Wortmann
- , Stefan Kölker
- , Georg F. Hoffmann
- , Holger Prokisch
- , Marisa I. Mendes
- & Christian Staufner
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Research | | Open
Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumours
- Ellen Brenner
- , Barbara F. Schörg
- , Fatima Ahmetlić
- , Thomas Wieder
- , Franz Joachim Hilke
- , Nadine Simon
- , Christopher Schroeder
- , German Demidov
- , Tanja Riedel
- , Birgit Fehrenbacher
- , Martin Schaller
- , Andrea Forschner
- , Thomas Eigentler
- , Heike Niessner
- , Tobias Sinnberg
- , Katharina S. Böhm
- , Nadine Hömberg
- , Heidi Braumüller
- , Daniel Dauch
- , Stefan Zwirner
- , Lars Zender
- , Dominik Sonanini
- , Albert Geishauser
- , Jürgen Bauer
- , Martin Eichner
- , Katja J. Jarick
- , Andreas Beilhack
- , Saskia Biskup
- , Dennis Döcker
- , Dirk Schadendorf
- , Leticia Quintanilla-Martinez
- , Bernd J. Pichler
- , Manfred Kneilling
- , Ralph Mocikat
- & Martin Röcken
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Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
- Tobias B Haack
- , Katharina Danhauser
- , Birgit Haberberger
- , Jonathan Hoser
- , Valentina Strecker
- , Detlef Boehm
- , Graziella Uziel
- , Eleonora Lamantea
- , Federica Invernizzi
- , Joanna Poulton
- , Boris Rolinski
- , Arcangela Iuso
- , Saskia Biskup
- , Thorsten Schmidt
- , Hans-Werner Mewes
- , Ilka Wittig
- , Thomas Meitinger
- , Massimo Zeviani
- & Holger Prokisch
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Research | | Open
PEDIA: prioritization of exome data by image analysis
- Tzung-Chien Hsieh
- , Martin A. Mensah
- , Jean T. Pantel
- , Dione Aguilar
- , Omri Bar
- , Allan Bayat
- , Luis Becerra-Solano
- , Heidi B. Bentzen
- , Saskia Biskup
- , Oleg Borisov
- , Oivind Braaten
- , Claudia Ciaccio
- , Marie Coutelier
- , Kirsten Cremer
- , Magdalena Danyel
- , Svenja Daschkey
- , Hilda David Eden
- , Koenraad Devriendt
- , Sandra Wilson
- , Sofia Douzgou
- , Dejan Đukić
- , Nadja Ehmke
- , Christine Fauth
- , Björn Fischer-Zirnsak
- , Nicole Fleischer
- , Heinz Gabriel
- , Luitgard Graul-Neumann
- , Karen W. Gripp
- , Yaron Gurovich
- , Asya Gusina
- , Nechama Haddad
- , Nurulhuda Hajjir
- , Yair Hanani
- , Jakob Hertzberg
- , Konstanze Hoertnagel
- , Janelle Howell
- , Ivan Ivanovski
- , Angela Kaindl
- , Tom Kamphans
- , Susanne Kamphausen
- , Catherine Karimov
- , Hadil Kathom
- , Anna Keryan
- , Alexej Knaus
- , Sebastian Köhler
- , Uwe Kornak
- , Alexander Lavrov
- , Maximilian Leitheiser
- , Gholson J. Lyon
- , Elisabeth Mangold
- , Purificación Marín Reina
- , Antonio Martinez Carrascal
- , Diana Mitter
- , Laura Morlan Herrador
- , Guy Nadav
- , Markus Nöthen
- , Alfredo Orrico
- , Claus-Eric Ott
- , Kristen Park
- , Borut Peterlin
- , Laura Pölsler
- , Annick Raas-Rothschild
- , Linda Randolph
- , Nicole Revencu
- , Christina Ringmann Fagerberg
- , Peter Nick Robinson
- , Stanislav Rosnev
- , Sabine Rudnik
- , Gorazd Rudolf
- , Ulrich Schatz
- , Anna Schossig
- , Max Schubach
- , Or Shanoon
- , Eamonn Sheridan
- , Pola Smirin-Yosef
- , Malte Spielmann
- , Eun-Kyung Suk
- , Yves Sznajer
- , Christian T. Thiel
- , Gundula Thiel
- , Alain Verloes
- , Irena Vrecar
- , Dagmar Wahl
- , Ingrid Weber
- , Korina Winter
- , Marzena Wiśniewska
- , Bernd Wollnik
- , Ming W. Yeung
- , Max Zhao
- , Na Zhu
- , Johannes Zschocke
- , Stefan Mundlos
- , Denise Horn
- & Peter M. Krawitz
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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
- Julian Schubert
- , Aleksandra Siekierska
- , Mélanie Langlois
- , Patrick May
- , Clément Huneau
- , Felicitas Becker
- , Hiltrud Muhle
- , Arvid Suls
- , Johannes R Lemke
- , Carolien G F de Kovel
- , Holger Thiele
- , Kathryn Konrad
- , Amit Kawalia
- , Mohammad R Toliat
- , Thomas Sander
- , Franz Rüschendorf
- , Almuth Caliebe
- , Inga Nagel
- , Bernard Kohl
- , Angela Kecskés
- , Maxime Jacmin
- , Katia Hardies
- , Sarah Weckhuysen
- , Erik Riesch
- , Thomas Dorn
- , Eva H Brilstra
- , Stephanie Baulac
- , Rikke S Møller
- , Helle Hjalgrim
- , Bobby P C Koeleman
- , Karin Jurkat-Rott
- , Frank Lehmann-Horn
- , Jared C Roach
- , Gustavo Glusman
- , Leroy Hood
- , David J Galas
- , Benoit Martin
- , Peter A M de Witte
- , Saskia Biskup
- , Peter De Jonghe
- , Ingo Helbig
- , Rudi Balling
- , Peter Nürnberg
- , Alexander D Crawford
- , Camila V Esguerra
- , Yvonne G Weber
- & Holger Lerche
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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
- Johannes R Lemke
- , Dennis Lal
- , Eva M Reinthaler
- , Isabelle Steiner
- , Michael Nothnagel
- , Michael Alber
- , Kirsten Geider
- , Bodo Laube
- , Michael Schwake
- , Katrin Finsterwalder
- , Andre Franke
- , Markus Schilhabel
- , Johanna A Jähn
- , Hiltrud Muhle
- , Rainer Boor
- , Wim Van Paesschen
- , Roberto Caraballo
- , Natalio Fejerman
- , Sarah Weckhuysen
- , Peter De Jonghe
- , Jan Larsen
- , Rikke S Møller
- , Helle Hjalgrim
- , Laura Addis
- , Shan Tang
- , Elaine Hughes
- , Deb K Pal
- , Kadi Veri
- , Ulvi Vaher
- , Tiina Talvik
- , Petia Dimova
- , Rosa Guerrero López
- , José M Serratosa
- , Tarja Linnankivi
- , Anna-Elina Lehesjoki
- , Susanne Ruf
- , Markus Wolff
- , Sarah Buerki
- , Gabriele Wohlrab
- , Judith Kroell
- , Alexandre N Datta
- , Barbara Fiedler
- , Gerhard Kurlemann
- , Gerhard Kluger
- , Andreas Hahn
- , D Edda Haberlandt
- , Christina Kutzer
- , Jürgen Sperner
- , Felicitas Becker
- , Yvonne G Weber
- , Martha Feucht
- , Hannelore Steinböck
- , Birgit Neophythou
- , Gabriel M Ronen
- , Ursula Gruber-Sedlmayr
- , Julia Geldner
- , Robert J Harvey
- , Per Hoffmann
- , Stefan Herms
- , Janine Altmüller
- , Mohammad R Toliat
- , Holger Thiele
- , Peter Nürnberg
- , Christian Wilhelm
- , Ulrich Stephani
- , Ingo Helbig
- , Holger Lerche
- , Fritz Zimprich
- , Bernd A Neubauer
- , Saskia Biskup
- & Sarah von Spiczak
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Research |
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
- Steffen Syrbe
- , Ulrike B S Hedrich
- , Erik Riesch
- , Tania Djémié
- , Stephan Müller
- , Rikke S Møller
- , Bridget Maher
- , Laura Hernandez-Hernandez
- , Matthis Synofzik
- , Hande S Caglayan
- , Mutluay Arslan
- , José M Serratosa
- , Michael Nothnagel
- , Patrick May
- , Roland Krause
- , Heidrun Löffler
- , Katja Detert
- , Thomas Dorn
- , Heinrich Vogt
- , Günter Krämer
- , Ludger Schöls
- , Primus E Mullis
- , Tarja Linnankivi
- , Anna-Elina Lehesjoki
- , Katalin Sterbova
- , Dana C Craiu
- , Dorota Hoffman-Zacharska
- , Christian M Korff
- , Yvonne G Weber
- , Maja Steinlin
- , Sabina Gallati
- , Astrid Bertsche
- , Matthias K Bernhard
- , Andreas Merkenschlager
- , Wieland Kiess
- , Rudi Balling
- , Nina Barisic
- , Stéphanie Baulac
- , Hande S Caglayan
- , Dana C Craiu
- , Peter De Jonghe
- , Christel Depienne
- , Padhraig Gormley
- , Renzo Guerrini
- , Ingo Helbig
- , Helle Hjalgrim
- , Dorota Hoffman-Zacharska
- , Johanna Jähn
- , Karl Martin Klein
- , Bobby P C Koeleman
- , Vladimir Komarek
- , Roland Krause
- , Eric LeGuern
- , Anna-Elina Lehesjoki
- , Johannes R Lemke
- , Holger Lerche
- , Carla Marini
- , Patrick May
- , Rikke S Møller
- , Hiltrud Muhle
- , Aarno Palotie
- , Deb Pal
- , Felix Rosenow
- , Kaja Selmer
- , José M Serratosa
- , Sanjay M Sisodiya
- , Ulrich Stephani
- , Katalin Sterbova
- , Pasquale Striano
- , Arvid Suls
- , Tiina Talvik
- , Sarah von Spiczak
- , Yvonne G Weber
- , Sarah Weckhuysen
- , Federico Zara
- , Michael Gonzalez
- , Stephan Züchner
- , Aarno Palotie
- , Arvid Suls
- , Peter De Jonghe
- , Ingo Helbig
- , Saskia Biskup
- , Markus Wolff
- , Snezana Maljevic
- , Rebecca Schüle
- , Sanjay M Sisodiya
- , Sarah Weckhuysen
- , Holger Lerche
- & Johannes R Lemke
