Showing 1–22 of 22 results
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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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Research |
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
- Gerarda Cappuccio
- , Camille Sayou
- , Pauline Le Tanno
- , Emilie Tisserant
- , Ange-Line Bruel
- , Sara El Kennani
- , Joaquim Sá
- , Karen J. Low
- , Cristina Dias
- , Markéta Havlovicová
- , Miroslava Hančárová
- , Evan E. Eichler
- , Françoise Devillard
- , Sébastien Moutton
- , Julien Van-Gils
- , Christèle Dubourg
- , Sylvie Odent
- , Bénédicte Gerard
- , Amélie Piton
- , Toshiyuki Yamamoto
- , Nobuhiko Okamoto
- , Helen Firth
- , Kay Metcalfe
- , Anna Moh
- , Kimberly A. Chapman
- , Erfan Aref-Eshghi
- , Jennifer Kerkhof
- , Annalaura Torella
- , Vincenzo Nigro
- , Laurence Perrin
- , Juliette Piard
- , Gwenaël Le Guyader
- , Thibaud Jouan
- , Christel Thauvin-Robinet
- , Yannis Duffourd
- , Jaya K. George-Abraham
- , Catherine A. Buchanan
- , Denise Williams
- , Usha Kini
- , Kate Wilson
- , Vincenzo Nigro
- , Nicola Brunetti-Pierri
- , Giorgio Casari
- , Gerarda Cappuccio
- , Annalaura Torella
- , Michele Pinelli
- , Francesco Musacchia
- , Margherita Mutarelli
- , Diego Carrella
- , Giuseppina Vitiello
- , Valeria Capra
- , Giancarlo Parenti
- , Vincenzo Leuzzi
- , Angelo Selicorni
- , Silvia Maitz
- , Sandro Banfi
- , Marcella Zollino
- , Mario Montomoli
- , Donatelli Milani
- , Corrado Romano
- , Albina Tummolo
- , Daniele De Brasi
- , Antonietta Coppola
- , Claudia Santoro
- , Angela Peron
- , Chiara Pantaleoni
- , Raffaele Castello
- , Stefano D’Arrigo
- , Sérgio B. Sousa
- , Raoul C. M. Hennekam
- , Bekim Sadikovic
- , Julien Thevenon
- , Jérôme Govin
- , Antonio Vitobello
- & Nicola Brunetti-Pierri
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Research |
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Research |
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Research |
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
- Zandra A Jenkins
- , Margriet van Kogelenberg
- , Tim Morgan
- , Aaron Jeffs
- , Ryuji Fukuzawa
- , Esther Pearl
- , Christina Thaller
- , Anne V Hing
- , Mary E Porteous
- , Sixto Garcia-Miñaur
- , Axel Bohring
- , Didier Lacombe
- , Fiona Stewart
- , Torunn Fiskerstrand
- , Laurence Bindoff
- , Siren Berland
- , Lesley C Adès
- , Michel Tchan
- , Albert David
- , Louise C Wilson
- , Raoul C M Hennekam
- , Dian Donnai
- , Sahar Mansour
- , Valérie Cormier-Daire
- & Stephen P Robertson
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Research |
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
- Birgit S Budde
- , Yasmin Namavar
- , Peter G Barth
- , Bwee Tien Poll-The
- , Gudrun Nürnberg
- , Christian Becker
- , Fred van Ruissen
- , Marian A J Weterman
- , Kees Fluiter
- , Erik T te Beek
- , Eleonora Aronica
- , Marjo S van der Knaap
- , Wolfgang Höhne
- , Mohammad Reza Toliat
- , Yanick J Crow
- , Maja Steinlin
- , Thomas Voit
- , Filip Roelens
- , Wim Brussel
- , Knut Brockmann
- , Marten Kyllerman
- , Eugen Boltshauser
- , Gerhard Hammersen
- , Michèl Willemsen
- , Lina Basel-Vanagaite
- , Ingeborg Krägeloh-Mann
- , Linda S de Vries
- , Laszlo Sztriha
- , Francesco Muntoni
- , Colin D Ferrie
- , Roberta Battini
- , Raoul C M Hennekam
- , Eugenio Grillo
- , Frits A Beemer
- , Loes M E Stoets
- , Bernd Wollnik
- , Peter Nürnberg
- & Frank Baas
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Research |
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
- Shoko Komatsuzaki
- , Yoko Aoki
- , Tetsuya Niihori
- , Nobuhiko Okamoto
- , Raoul C M Hennekam
- , Saskia Hopman
- , Hirofumi Ohashi
- , Seiji Mizuno
- , Yoriko Watanabe
- , Hotaka Kamasaki
- , Ikuko Kondo
- , Nobuko Moriyama
- , Kenji Kurosawa
- , Hiroshi Kawame
- , Ryuhei Okuyama
- , Masue Imaizumi
- , Takeshi Rikiishi
- , Shigeru Tsuchiya
- , Shigeo Kure
- & Yoichi Matsubara
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Research |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
- Tetsuya Niihori
- , Yoko Aoki
- , Yoko Narumi
- , Giovanni Neri
- , Hélène Cavé
- , Alain Verloes
- , Nobuhiko Okamoto
- , Raoul C M Hennekam
- , Gabriele Gillessen-Kaesbach
- , Dagmar Wieczorek
- , Maria Ines Kavamura
- , Kenji Kurosawa
- , Hirofumi Ohashi
- , Louise Wilson
- , Delphine Heron
- , Dominique Bonneau
- , Giuseppina Corona
- , Tadashi Kaname
- , Kenji Naritomi
- , Clarisse Baumann
- , Naomichi Matsumoto
- , Kumi Kato
- , Shigeo Kure
- & Yoichi Matsubara
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Reviews |
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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
