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Frédéric Ebstein
Ebstein et al., 2021
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@misc{Ebstein2021, author = {Ebstein, Frédéric and Küry, Sébastien and Most, Victoria and Rosenfelt, Cory and Boyer, Marie-Pier Scott and van Woerden, Geeske M. and Besnard, Thomas and Papendorf, Jonas Johannes and Studencka-Turski, Maja and Wang, Tianyun and Hsieh, Tzung-Chien and Golnik, Richard and Baldridge, Dustin and Forster, Cara and de Konink, Charlotte and Teurlings, Selina M. W. and Vignard, Virginie and van Jaarsveld, Richard H. and Ades, Lesley and Cogné, Benjamin and Mignot, Cyril and Deb, Wallid and Jongmans, Marjolijn C. J. and Sessions Cole, F. and van den Boogaard, Marie José H. and Wambach, Jennifer A. and Wegner, Daniel J. and Yang, Sandra and Hannig, Vickie and Brault, Jennifer Ann and Zadeh, Neda and Bennetts, Bruce and Keren, Boris and Gélineau, Anne-Claire and Powis, Zöe and Towne, Meghan and Bachman, Kristine and Seeley, Andrea and Beck, Anita E. and Morrison, Jennifer and Westman, Rachel and Averill, Kelly and Brunet, Theresa and Haasters, Judith and Carter, Melissa T. and Osmond, Matthew and Wheeler, Patricia G. and Forzano, Francesca and Mohammed, Shehla and Trakadis, Yannis and Accogli, Andrea and Harrison, Rachel and Rondeau, Sophie and Baujat, Geneviève and Barcia, Giulia and Feichtinger, René Günther and Mayr, Johannes Adalbert and Preisel, Martin and Laumonnier, Frédéric and Knaus, Alexej and Isidor, Bertrand and Krawitz, Peter and Völker, Uwe and Hammer, Elke and Droit, Arnaud and Eichler, Evan E. and Elgersma, Ype and Hildebrand, Peter W. and Bolduc, François and Krüger, Elke and Bézieau, Stéphane}, month = {dec}, title = {De novo variants in thePSMC3proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies}, year = {2021} }
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De novo variants in thePSMC3proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies
Published in 2021 by
Frédéric Ebstein
,
Sébastien Küry
,
Victoria Most
,
Cory Rosenfelt
,
Marie-Pier Scott Boyer
,
Geeske M. van Woerden
,
Thomas Besnard
,
Jonas Johannes Papendorf
,
Maja Studencka-Turski
,
Tianyun Wang
,
Tzung-Chien Hsieh
,
Richard Golnik
,
Dustin Baldridge
,
Cara Forster
,
Charlotte de Konink
and
other authors.
Frédéric Ebstein
,
Sébastien Küry
,
Victoria Most
,
Cory Rosenfelt
,
Marie-Pier Scott Boyer
,
Geeske M. van Woerden
,
Thomas Besnard
,
Jonas Johannes Papendorf
,
Maja Studencka-Turski
,
Tianyun Wang
,
Tzung-Chien Hsieh
,
Richard Golnik
,
Dustin Baldridge
,
Cara Forster
,
Charlotte de Konink
,
Selina M. W. Teurlings
,
Virginie Vignard
,
Richard H. van Jaarsveld
,
Lesley Ades
,
Benjamin Cogné
,
Cyril Mignot
,
Wallid Deb
,
Marjolijn C. J. Jongmans
,
F. Sessions Cole
,
Marie José H. van den Boogaard
,
Jennifer A. Wambach
,
Daniel J. Wegner
,
Sandra Yang
,
Vickie Hannig
,
Jennifer Ann Brault
,
Neda Zadeh
,
Bruce Bennetts
,
Boris Keren
,
Anne-Claire Gélineau
,
Zöe Powis
,
Meghan Towne
,
Kristine Bachman
,
Andrea Seeley
,
Anita E. Beck
,
Jennifer Morrison
,
Rachel Westman
,
Kelly Averill
,
Theresa Brunet
,
Judith Haasters
,
Melissa T. Carter
,
Matthew Osmond
,
Patricia G. Wheeler
,
Francesca Forzano
,
Shehla Mohammed
,
Yannis Trakadis
,
Andrea Accogli
,
Rachel Harrison
,
Sophie Rondeau
,
Geneviève Baujat
,
Giulia Barcia
,
René Günther Feichtinger
,
Johannes Adalbert Mayr
,
Martin Preisel
,
Frédéric Laumonnier
,
Alexej Knaus
,
Bertrand Isidor
,
Peter Krawitz
,
Uwe Völker
,
Elke Hammer
,
Arnaud Droit
,
Evan E. Eichler
,
Ype Elgersma
,
Peter W. Hildebrand
,
François Bolduc
,
Elke Krüger
,
Stéphane Bézieau
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