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Amendments and Corrections |
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant
- Eliane Beauregard-Lacroix
- , Guillermo Pacheco-Cuellar
- , Norbert F. Ajeawung
- , Jessica Tardif
- , Klaus Dieterich
- , Tabib Dabir
- , Dina Vind-Kezunovic
- , Susan M. White
- , Denes Zadori
- , Claudia Castiglioni
- , Lisbeth Tranebjærg
- , Pernille Mathiesen Tørring
- , Ed Blair
- , Marzena Wisniewska
- , Maria Vittoria Camurri
- , Yolande van Bever
- , Sirinart Molidperee
- , Juliet Taylor
- , Alexandre Dionne-Laporte
- , Sanjay M. Sisodiya
- , Raoul C. M. Hennekam
- & Philippe M. Campeau
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Research |
DOORS syndrome and a recurrent truncating ATP6V1B2 variant
- Eliane Beauregard-Lacroix
- , Guillermo Pacheco-Cuellar
- , Norbert F. Ajeawung
- , Jessica Tardif
- , Klaus Dieterich
- , Tabib Dabir
- , Dina Vind-Kezunovic
- , Susan M. White
- , Denes Zadori
- , Claudia Castiglioni
- , Lisbeth Tranebjærg
- , Pernille Mathiesen Tørring
- , Ed Blair
- , Marzena Wisniewska
- , Maria Vittoria Camurri
- , Yolande van Bever
- , Sirinart Molidperee
- , Juliet Taylor
- , Alexandre Dionne-Laporte
- , Sanjay M. Sisodiya
- , Raoul C. M. Hennekam
- & Philippe M. Campeau
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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 |
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
- Erwin Brosens
- , Florian Marsch
- , Elisabeth M de Jong
- , Hitisha P Zaveri
- , Alina C Hilger
- , Vera Gisela Choinitzki
- , Alice Hölscher
- , Per Hoffmann
- , Stefan Herms
- , Thomas M Boemers
- , Benno M Ure
- , Martin Lacher
- , Michael Ludwig
- , Bert H Eussen
- , Robert M van der Helm
- , Hannie Douben
- , Diane Van Opstal
- , Rene M H Wijnen
- , H Berna Beverloo
- , Yolande van Bever
- , Alice S Brooks
- , Hanneke IJsselstijn
- , Daryl A Scott
- , Johannes Schumacher
- , Dick Tibboel
- , Heiko Reutter
- & Annelies de Klein
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Research |
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes
- Aimée DC Paulussen
- , Constance T Schrander-Stumpel
- , Demis C J Tserpelis
- , Matteus K M Spee
- , Alexander P A Stegmann
- , Grazia M Mancini
- , Alice S Brooks
- , Margriet Collée
- , Anneke Maat-Kievit
- , Marleen E H Simon
- , Yolande van Bever
- , Irene Stolte-Dijkstra
- , Wilhelmina S Kerstjens-Frederikse
- , Johanna C Herkert
- , Anthonie J van Essen
- , Klaske D Lichtenbelt
- , Arie van Haeringen
- , Mei L Kwee
- , Augusta M A Lachmeijer
- , Gita M B Tan-Sindhunata
- , Merel C van Maarle
- , Yvonne H J M Arens
- , Eric E J G L Smeets
- , Christine E de Die-Smulders
- , John J M Engelen
- , Hubertus J Smeets
- & Jos Herbergs
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Research |
Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
- Sonja A de Munnik
- , Louise S Bicknell
- , Salim Aftimos
- , Jumana Y Al-Aama
- , Yolande van Bever
- , Michael B Bober
- , Jill Clayton-Smith
- , Alaa Y Edrees
- , Murray Feingold
- , Alan Fryer
- , Johanna M van Hagen
- , Raoul C Hennekam
- , Maaike C E Jansweijer
- , Diana Johnson
- , Sarina G Kant
- , John M Opitz
- , A Radha Ramadevi
- , Willie Reardon
- , Alison Ross
- , Pierre Sarda
- , Constance T R M Schrander-Stumpel
- , Jeroen Schoots
- , I Karen Temple
- , Paulien A Terhal
- , Annick Toutain
- , Carol A Wise
- , Michael Wright
- , David L Skidmore
- , Mark E Samuels
- , Lies H Hoefsloot
- , Nine V A M Knoers
- , Han G Brunner
- , Andrew P Jackson
- & Ernie M H F Bongers
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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
