Showing 1–14 of 14 results
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Research |
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
- Chiara Klöckner
- , Heinrich Sticht
- , Pia Zacher
- , Bernt Popp
- , Holly E. Babcock
- , Dewi P. Bakker
- , Katy Barwick
- , Michaela V. Bonfert
- , Carsten G. Bönnemann
- , Eva H. Brilstra
- , Wendy K. Chung
- , Angus J. Clarke
- , Patrick Devine
- , Sandra Donkervoort
- , Jamie L. Fraser
- , Jennifer Friedman
- , Alyssa Gates
- , Jamal Ghoumid
- , Emma Hobson
- , Gabriella Horvath
- , Jennifer Keller-Ramey
- , Boris Keren
- , Manju A. Kurian
- , Virgina Lee
- , Kathleen A. Leppig
- , Johan Lundgren
- , Marie T. McDonald
- , Amy McTague
- , Heather C. Mefford
- , Cyril Mignot
- , Mohamad A. Mikati
- , Caroline Nava
- , F. Lucy Raymond
- , Julian R. Sampson
- , Alba Sanchis-Juan
- , Vandana Shashi
- , Joseph T. C. Shieh
- , Marwan Shinawi
- , Anne Slavotinek
- , Tommy Stödberg
- , Nicholas Stong
- , Jennifer A. Sullivan
- , Ashley C. Taylor
- , Tomi L. Toler
- , Marie-José van den Boogaard
- , Saskia N. van der Crabben
- , Koen L. I. van Gassen
- , Richard H. van Jaarsveld
- , Jessica Van Ziffle
- , Alexandrea F. Wadley
- , Matias Wagner
- , Kristen Wigby
- , Saskia B. Wortmann
- , Yuri A. Zarate
- , Rikke S. Møller
- , Johannes R. Lemke
- & Konrad Platzer
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Correspondence |
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Amendments and Corrections |
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
- Karin Weiss
- , Hayley P. Lazar
- , Alina Kurolap
- , Ariel F. Martinez
- , Tamar Paperna
- , Lior Cohen
- , Marie F. Smeland
- , Sandra Whalen
- , Solveig Heide
- , Boris Keren
- , Pauline Terhal
- , Melita Irving
- , Motoki Takaku
- , John D. Roberts
- , Robert M. Petrovich
- , Samantha A. Schrier Vergano
- , Amy Kenney
- , Hanne Hove
- , Elizabeth DeChene
- , Shane C. Quinonez
- , Estelle Colin
- , Alban Ziegler
- , Melissa Rumple
- , Mahim Jain
- , Danielle Monteil
- , Elizabeth R. Roeder
- , Kimberly Nugent
- , Arie van Haeringen
- , Michael Gambello
- , Avni Santani
- , Līvija Medne
- , Bryan Krock
- , Cara M. Skraban
- , Elaine H. Zackai
- , Holly A. Dubbs
- , Thomas Smol
- , Jamal Ghoumid
- , Michael J. Parker
- , Michael Wright
- , Peter Turnpenny
- , Jill Clayton-Smith
- , Kay Metcalfe
- , Hitoshi Kurumizaka
- , Bruce D. Gelb
- , Hagit Baris Feldman
- , Philippe M. Campeau
- , Maximilian Muenke
- , Paul A. Wade
- & Katherine Lachlan
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Research |
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
- Henri Margot
- , Guilaine Boursier
- , Claire Duflos
- , Elodie Sanchez
- , Jeanne Amiel
- , Jean-Christophe Andrau
- , Stéphanie Arpin
- , Elise Brischoux-Boucher
- , Odile Boute
- , Lydie Burglen
- , Charlotte Caille
- , Yline Capri
- , Patrick Collignon
- , Solène Conrad
- , Valérie Cormier-Daire
- , Geoffroy Delplancq
- , Klaus Dieterich
- , Hélène Dollfus
- , Mélanie Fradin
- , Laurence Faivre
- , Helder Fernandes
- , Christine Francannet
- , Vincent Gatinois
- , Marion Gerard
- , Alice Goldenberg
- , Jamal Ghoumid
- , Sarah Grotto
- , Anne-Marie Guerrot
- , Agnès Guichet
- , Bertrand Isidor
- , Marie-Line Jacquemont
- , Sophie Julia
- , Philippe Khau Van Kien
- , Marine Legendre
- , K. H. Le Quan Sang
- , Bruno Leheup
- , Stanislas Lyonnet
- , Virginie Magry
- , Sylvie Manouvrier
- , Dominique Martin
- , Godelieve Morel
- , Arnold Munnich
- , Sophie Naudion
- , Sylvie Odent
- , Laurence Perrin
- , Florence Petit
- , Nicole Philip
- , Marlène Rio
- , Julie Robbe
- , Massimiliano Rossi
- , Elisabeth Sarrazin
- , Annick Toutain
- , Julien Van Gils
- , Gabriella Vera
- , Alain Verloes
- , Sacha Weber
- , Sandra Whalen
- , Damien Sanlaville
- , Didier Lacombe
- , Nathalie Aladjidi
- & David Geneviève
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Amendments and Corrections |
Correction: Arterial tortuosity syndrome: 40 new families and literature review
- Aude Beyens
- , Juliette Albuisson
- , Annekatrien Boel
- , Mazen Al-Essa
- , Waheed Al-Manea
- , Damien Bonnet
- , Ozlem Bostan
- , Odile Boute
- , Tiffany Busa
- , Nathalie Canham
- , Ergun Cil
- , Paul J. Coucke
- , Margot A. Cousin
- , Majed Dasouki
- , Julie De Backer
- , Anne De Paepe
- , Sofie De Schepper
- , Deepthi De Silva
- , Koenraad Devriendt
- , Inge De Wandele
- , David R. Deyle
- , Harry Dietz
- , Sophie Dupuis-Girod
- , Eudice Fontenot
- , Björn Fischer-Zirnsak
- , Alper Gezdirici
- , Jamal Ghoumid
- , Fabienne Giuliano
- , Neus Baena
- , Mohammed Z. Haider
- , Joshua S. Hardin
- , Xavier Jeunemaitre
- , Eric W. Klee
- , Uwe Kornak
- , Manuel F. Landecho
- , Anne Legrand
- , Bart Loeys
- , Stanislas Lyonnet
- , Helen Michael
- , Pamela Moceri
- , Shehla Mohammed
- , Laura Muiño-Mosquera
- , Sheela Nampoothiri
- , Karin Pichler
- , Katrina Prescott
- , Anna Rajeb
- , Maria Ramos-Arroyo
- , Massimiliano Rossi
- , Mustafa Salih
- , Mohammed Z. Seidahmed
- , Elise Schaefer
- , Elisabeth Steichen-Gersdorf
- , Sehime Temel
- , Fahrettin Uysal
- , Marine Vanhomwegen
- , Lut Van Laer
- , Lionel Van Maldergem
- , David Warner
- , Andy Willaert
- , Tom R. Collins II
- , Andrea Taylor
- , Elaine C. Davis
- , Yuri Zarate
- & Bert Callewaert
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Research |
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Research |
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Research |
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
- Karin Weiss
- , Hayley P. Lazar
- , Alina Kurolap
- , Ariel F. Martinez
- , Tamar Paperna
- , Lior Cohen
- , Marie F. Smeland
- , Sandra Whalen
- , Solveig Heide
- , Boris Keren
- , Pauline Terhal
- , Melita Irving
- , Motoki Takaku
- , John D. Roberts
- , Robert M. Petrovich
- , Samantha A. Schrier Vergano
- , Amy Kenney
- , Hanne Hove
- , Elizabeth DeChene
- , Shane C. Quinonez
- , Estelle Colin
- , Alban Ziegler
- , Melissa Rumple
- , Mahim Jain
- , Danielle Monteil
- , Elizabeth R. Roeder
- , Kimberly Nugent
- , Arie van Haeringen
- , Michael Gambello
- , Avni Santani
- , Līvija Medne
- , Bryan Krock
- , Cara M. Skraban
- , Elaine H. Zackai
- , Holly A. Dubbs
- , Thomas Smol
- , Jamal Ghoumid
- , Michael J. Parker
- , Michael Wright
- , Peter Turnpenny
- , Jill Clayton-Smith
- , Kay Metcalfe
- , Hitoshi Kurumizaka
- , Bruce D. Gelb
- , Hagit Baris Feldman
- , Philippe M. Campeau
- , Maximilian Muenke
- , Paul A. Wade
- & Katherine Lachlan
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Research |
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
- Rosalind Verheije
- , Gabriel S. Kupchik
- , Bertrand Isidor
- , Hester Y. Kroes
- , Sally Ann Lynch
- , Lara Hawkes
- , Maja Hempel
- , Bruce D. Gelb
- , Jamal Ghoumid
- , Guylaine D’Amours
- , Kate Chandler
- , Christèle Dubourg
- , Sara Loddo
- , Zeynep Tümer
- , Charles Shaw-Smith
- , Mathilde Nizon
- , Michael Shevell
- , Evelien Van Hoof
- , Kwame Anyane-Yeboa
- , Gaetana Cerbone
- , Jill Clayton-Smith
- , Benjamin Cogné
- , Pierre Corre
- , Anniek Corveleyn
- , Marie De Borre
- , Tina Duelund Hjortshøj
- , Mélanie Fradin
- , Marc Gewillig
- , Elizabeth Goldmuntz
- , Greet Hens
- , Emmanuelle Lemyre
- , Hubert Journel
- , Usha Kini
- , Fanny Kortüm
- , Cedric Le Caignec
- , Antonio Novelli
- , Sylvie Odent
- , Florence Petit
- , Anya Revah-Politi
- , Nicholas Stong
- , Tim M. Strom
- , Ellen van Binsbergen
- , Koenraad Devriendt
- & Jeroen Breckpot
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Research |
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Research |
Arterial tortuosity syndrome: 40 new families and literature review
- Aude Beyens
- , Juliette Albuisson
- , Annekatrien Boel
- , Mazen Al-Essa
- , Waheed Al-Manea
- , Damien Bonnet
- , Ozlem Bostan
- , Odile Boute
- , Tiffany Busa
- , Nathalie Canham
- , Ergun Cil
- , Paul J Coucke
- , Margot A Cousin
- , Majed Dasouki
- , Julie De Backer
- , Anne De Paepe
- , Sofie De Schepper
- , Deepthi De Silva
- , Koenraad Devriendt
- , Inge De Wandele
- , David R Deyle
- , Harry Dietz
- , Sophie Dupuis-Girod
- , Eudice Fontenot
- , Björn Fischer-Zirnsak
- , Alper Gezdirici
- , Jamal Ghoumid
- , Fabienne Giuliano
- , Neus Baena Diéz
- , Mohammed Z Haider
- , Joshua S Hardin
- , Xavier Jeunemaitre
- , Eric W Klee
- , Uwe Kornak
- , Manuel F Landecho
- , Anne Legrand
- , Bart Loeys
- , Stanislas Lyonnet
- , Helen Michael
- , Pamela Moceri
- , Shehla Mohammed
- , Laura Muiño-Mosquera
- , Sheela Nampoothiri
- , Karin Pichler
- , Katrina Prescott
- , Anna Rajeb
- , Maria Ramos-Arroyo
- , Massimiliano Rossi
- , Mustafa Salih
- , Mohammed Z Seidahmed
- , Elise Schaefer
- , Elisabeth Steichen-Gersdorf
- , Sehime Temel
- , Fahrettin Uysal
- , Marine Vanhomwegen
- , Lut Van Laer
- , Lionel Van Maldergem
- , David Warner
- , Andy Willaert
- , Tom R Collins
- , Andrea Taylor
- , Elaine C Davis
- , Yuri Zarate
- & Bert Callewaert
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Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1
- Jamal Ghoumid
- , Morgane Stichelbout
- , Anne-Sophie Jourdain
- , Frederic Frenois
- , Sophie Lejeune-Dumoulin
- , Marie-Pierre Alex-Cordier
- , Marine Lebrun
- , Pierre Guerreschi
- , Veronique Duquennoy-Martinot
- , Matthieu Vinchon
- , Joel Ferri
- , Matthieu Jung
- , Serge Vicaire
- , Clemence Vanlerberghe
- , Fabienne Escande
- , Florence Petit
- & Sylvie Manouvrier-Hanu
