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Amendments and Corrections |
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
- Kristien P Hoornaert
- , Inge Vereecke
- , Chantal Dewinter
- , Thomas Rosenberg
- , Frits A Beemer
- , Jules G Leroy
- , Laila Bendix
- , Erik Björck
- , Maryse Bonduelle
- , Odile Boute
- , Valerie Cormier-Daire
- , Christine De Die-Smulders
- , Anne Dieux-Coeslier
- , Hélène Dollfus
- , Mariet Elting
- , Andrew Green
- , Veronica I Guerci
- , Raoul CM Hennekam
- , Yvonne Hilhorts-Hofstee
- , Muriel Holder
- , Carel Hoyng
- , Kristi J Jones
- , Dragana Josifova
- , Ilkka Kaitila
- , Suzanne Kjaergaard
- , Yolande H Kroes
- , Kristina Lagerstedt
- , Melissa Lees
- , Martine LeMerrer
- , Cinzia Magnani
- , Carlo Marcelis
- , Loreto Martorell
- , Michèle Mathieu
- , Meriel McEntagart
- , Angela Mendicino
- , Jenny Morton
- , Gabrielli Orazio
- , Véronique Paquis
- , Orit Reish
- , Kalle OJ Simola
- , Sarah F Smithson
- , Karen I Temple
- , Elisabeth Van Aken
- , Yolande Van Bever
- , Jenneke van den Ende
- , Johanna M Van Hagen
- , Leopoldo Zelante
- , Riina Zordania
- , Anne De Paepe
- , Bart P Leroy
- , Marc De Buyzere
- , Paul J Coucke
- & Geert R Mortier
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Research |
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
- Theodore G. Drivas
- , Dong Li
- , Divya Nair
- , Joseph T. Alaimo
- , Mariëlle Alders
- , Janine Altmüller
- , Tahsin Stefan Barakat
- , E. Martina Bebin
- , Nicole L. Bertsch
- , Patrick R. Blackburn
- , Alyssa Blesson
- , Arjan M. Bouman
- , Knut Brockmann
- , Perrine Brunelle
- , Margit Burmeister
- , Gregory M. Cooper
- , Jonas Denecke
- , Anne Dieux-Coëslier
- , Holly Dubbs
- , Alejandro Ferrer
- , Danna Gal
- , Lauren E. Bartik
- , Lauren B. Gunderson
- , Linda Hasadsri
- , Mahim Jain
- , Catherine Karimov
- , Beth Keena
- , Eric W. Klee
- , Katja Kloth
- , Baiba Lace
- , Marina Macchiaiolo
- , Julien L. Marcadier
- , Jeff M. Milunsky
- , Melanie P. Napier
- , Xilma R. Ortiz-Gonzalez
- , Pavel N. Pichurin
- , Jason Pinner
- , Zoe Powis
- , Chitra Prasad
- , Francesca Clementina Radio
- , Kristen J. Rasmussen
- , Deborah L. Renaud
- , Eric T. Rush
- , Carol Saunders
- , Duygu Selcen
- , Ann R. Seman
- , Deepali N. Shinde
- , Erica D. Smith
- , Thomas Smol
- , Lot Snijders Blok
- , Joan M. Stoler
- , Sha Tang
- , Marco Tartaglia
- , Michelle L. Thompson
- , Jiddeke M. van de Kamp
- , Jingmin Wang
- , Dagmar Weise
- , Karin Weiss
- , Rixa Woitschach
- , Bernd Wollnik
- , Huifang Yan
- , Elaine H. Zackai
- , Giuseppe Zampino
- , Philippe Campeau
- & Elizabeth Bhoj
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Research |
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
- Laura Castilla-Vallmanya
- , Kaja K. Selmer
- , Clémantine Dimartino
- , Raquel Rabionet
- , Bernardo Blanco-Sánchez
- , Sandra Yang
- , Margot R. F. Reijnders
- , Antonie J. van Essen
- , Myriam Oufadem
- , Magnus D. Vigeland
- , Barbro Stadheim
- , Gunnar Houge
- , Helen Cox
- , Helen Kingston
- , Jill Clayton-Smith
- , Jeffrey W. Innis
- , Maria Iascone
- , Anna Cereda
- , Sara Gabbiadini
- , Wendy K. Chung
- , Victoria Sanders
- , Joel Charrow
- , Emily Bryant
- , John Millichap
- , Antonio Vitobello
- , Christel Thauvin
- , Frederic Tran Mau-Them
- , Laurence Faivre
- , Gaetan Lesca
- , Audrey Labalme
- , Christelle Rougeot
- , Nicolas Chatron
- , Damien Sanlaville
- , Katherine M. Christensen
- , Amelia Kirby
- , Raymond Lewandowski
- , Rachel Gannaway
- , Maha Aly
- , Anna Lehman
- , Lorne Clarke
- , Luitgard Graul-Neumann
- , Christiane Zweier
- , Davor Lessel
- , Bernarda Lozic
- , Ingvild Aukrust
- , Ryan Peretz
- , Robert Stratton
- , Thomas Smol
- , Anne Dieux-Coëslier
- , Joanna Meira
- , Elizabeth Wohler
- , Nara Sobreira
- , Erin M. Beaver
- , Jennifer Heeley
- , Lauren C. Briere
- , Frances A. High
- , David A. Sweetser
- , Melissa A. Walker
- , Catherine E. Keegan
- , Parul Jayakar
- , Marwan Shinawi
- , Wilhelmina S. Kerstjens-Frederikse
- , Dawn L. Earl
- , Victoria M. Siu
- , Emma Reesor
- , Tony Yao
- , Robert A. Hegele
- , Olena M. Vaske
- , Shannon Rego
- , Kevin A. Shapiro
- , Brian Wong
- , Michael J. Gambello
- , Marie McDonald
- , Danielle Karlowicz
- , Roberto Colombo
- , Alessandro Serretti
- , Lynn Pais
- , Anne O’Donnell-Luria
- , Alison Wray
- , Simon Sadedin
- , Belinda Chong
- , Tiong Y. Tan
- , John Christodoulou
- , Susan M. White
- , Anne Slavotinek
- , Deborah Barbouth
- , Dayna Morel Swols
- , Mélanie Parisot
- , Christine Bole-Feysot
- , Patrick Nitschké
- , Véronique Pingault
- , Arnold Munnich
- , Megan T. Cho
- , Valérie Cormier-Daire
- , Susanna Balcells
- , Stanislas Lyonnet
- , Daniel Grinberg
- , Jeanne Amiel
- , Roser Urreizti
- & Christopher T. Gordon
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Research |
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Research |
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Research |
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia
- Hélène Cavé
- , Aurélie Caye
- , Nehla Ghedira
- , Yline Capri
- , Nathalie Pouvreau
- , Natacha Fillot
- , Aurélien Trimouille
- , Cédric Vignal
- , Odile Fenneteau
- , Yves Alembik
- , Jean-Luc Alessandri
- , Patricia Blanchet
- , Odile Boute
- , Patrice Bouvagnet
- , Albert David
- , Anne Dieux Coeslier
- , Bérénice Doray
- , Olivier Dulac
- , Valérie Drouin-Garraud
- , Marion Gérard
- , Delphine Héron
- , Bertrand Isidor
- , Didier Lacombe
- , Stanislas Lyonnet
- , Laurence Perrin
- , Marlène Rio
- , Joëlle Roume
- , Sylvie Sauvion
- , Annick Toutain
- , Catherine Vincent-Delorme
- , Marjorie Willems
- , Clarisse Baumann
- & Alain Verloes
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Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
- Marie Vincent
- , David Geneviève
- , Agnès Ostertag
- , Sandrine Marlin
- , Didier Lacombe
- , Dominique Martin-Coignard
- , Christine Coubes
- , Albert David
- , Stanislas Lyonnet
- , Catheline Vilain
- , Anne Dieux-Coeslier
- , Sylvie Manouvrier
- , Bertrand Isidor
- , Marie-Line Jacquemont
- , Sophie Julia
- , Valérie Layet
- , Sophie Naudion
- , Sylvie Odent
- , Laurent Pasquier
- , Sybille Pelras
- , Nicole Philip
- , Geneviève Pierquin
- , Fabienne Prieur
- , Nisrine Aboussair
- , Tania Attie-Bitach
- , Geneviève Baujat
- , Patricia Blanchet
- , Catherine Blanchet
- , Hélène Dollfus
- , Bérénice Doray
- , Elise Schaefer
- , Patrick Edery
- , Fabienne Giuliano
- , Alice Goldenberg
- , Cyril Goizet
- , Agnès Guichet
- , Christian Herlin
- , Laetitia Lambert
- , Bruno Leheup
- , Jelena Martinovic
- , Sandra Mercier
- , Cyril Mignot
- , Marie-Laure Moutard
- , Marie-José Perez
- , Lucile Pinson
- , Jacques Puechberty
- , Marjolaine Willems
- , Hanitra Randrianaivo
- , Kateline Szaskon
- , Annick Toutain
- , Alain Verloes
- , Jacqueline Vigneron
- , Elodie Sanchez
- , Pierre Sarda
- , Jean-Louis Laplanche
- & Corinne Collet
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Research |
New insights into genotype–phenotype correlation for GLI3 mutations
- Florence Démurger
- , Amale Ichkou
- , Soumaya Mougou-Zerelli
- , Martine Le Merrer
- , Géraldine Goudefroye
- , Anne-Lise Delezoide
- , Chloé Quélin
- , Sylvie Manouvrier
- , Geneviève Baujat
- , Mélanie Fradin
- , Laurent Pasquier
- , André Megarbané
- , Laurence Faivre
- , Clarisse Baumann
- , Sheela Nampoothiri
- , Joëlle Roume
- , Bertrand Isidor
- , Didier Lacombe
- , Marie-Ange Delrue
- , Sandra Mercier
- , Nicole Philip
- , Elise Schaefer
- , Muriel Holder
- , Amanda Krause
- , Fanny Laffargue
- , Martine Sinico
- , Daniel Amram
- , Gwenaelle André
- , Alain Liquier
- , Massimiliano Rossi
- , Jeanne Amiel
- , Fabienne Giuliano
- , Odile Boute
- , Anne Dieux-Coeslier
- , Marie-Line Jacquemont
- , Alexandra Afenjar
- , Lionel Van Maldergem
- , Marylin Lackmy-Port-Lis
- , Catherine Vincent- Delorme
- , Marie-Liesse Chauvet
- , Valérie Cormier-Daire
- , Louise Devisme
- , David Geneviève
- , Arnold Munnich
- , Géraldine Viot
- , Odile Raoul
- , Serge Romana
- , Marie Gonzales
- , Ferechte Encha-Razavi
- , Sylvie Odent
- , Michel Vekemans
- & Tania Attie-Bitach
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Research |
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
- Kristien P Hoornaert
- , Inge Vereecke
- , Chantal Dewinter
- , Thomas Rosenberg
- , Frits A Beemer
- , Jules G Leroy
- , Laila Bendix
- , Erik Björck
- , Maryse Bonduelle
- , Odile Boute
- , Valerie Cormier-Daire
- , Christine De Die-Smulders
- , Anne Dieux-Coeslier
- , Hélène Dollfus
- , Mariet Elting
- , Andrew Green
- , Veronica I Guerci
- , Raoul C M Hennekam
- , Yvonne Hilhorts-Hofstee
- , Muriel Holder
- , Carel Hoyng
- , Kristi J Jones
- , Dragana Josifova
- , Ilkka Kaitila
- , Suzanne Kjaergaard
- , Yolande H Kroes
- , Kristina Lagerstedt
- , Melissa Lees
- , Martine LeMerrer
- , Cinzia Magnani
- , Carlo Marcelis
- , Loreto Martorell
- , Michèle Mathieu
- , Meriel McEntagart
- , Angela Mendicino
- , Jenny Morton
- , Gabrielli Orazio
- , Véronique Paquis
- , Orit Reish
- , Kalle O J Simola
- , Sarah F Smithson
- , Karen I Temple
- , Elisabeth Van Aken
- , Yolande Van Bever
- , Jenneke van den Ende
- , Johanna M Van Hagen
- , Leopoldo Zelante
- , Riina Zordania
- , Anne De Paepe
- , Bart P Leroy
- , Marc De Buyzere
- , Paul J Coucke
- & Geert R Mortier
