Showing 1–10 of 10 results
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Research |
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- Bryony A Thompson
- , Amanda B Spurdle
- , John-Paul Plazzer
- , Marc S Greenblatt
- , Kiwamu Akagi
- , Fahd Al-Mulla
- , Bharati Bapat
- , Inge Bernstein
- , Gabriel Capellá
- , Johan T den Dunnen
- , Desiree du Sart
- , Aurelie Fabre
- , Michael P Farrell
- , Susan M Farrington
- , Ian M Frayling
- , Thierry Frebourg
- , David E Goldgar
- , Christopher D Heinen
- , Elke Holinski-Feder
- , Maija Kohonen-Corish
- , Kristina Lagerstedt Robinson
- , Suet Yi Leung
- , Alexandra Martins
- , Pal Moller
- , Monika Morak
- , Minna Nystrom
- , Paivi Peltomaki
- , Marta Pineda
- , Ming Qi
- , Rajkumar Ramesar
- , Lene Juel Rasmussen
- , Brigitte Royer-Pokora
- , Rodney J Scott
- , Rolf Sijmons
- , Sean V Tavtigian
- , Carli M Tops
- , Thomas Weber
- , Juul Wijnen
- , Michael O Woods
- , Finlay Macrae
- , Maurizio Genuardi
- , Adela Castillejo
- , Adrienne Sexton
- , Anthony K W Chan
- , Alessandra Viel
- , Amie Blanco
- , Amy French
- , Andreas Laner
- , Anja Wagner
- , Ans van den Ouweland
- , Arjen Mensenkamp
- , Artemio Payá
- , Beate Betz
- , Bert Redeker
- , Betsy Smith
- , Carin Espenschied
- , Carole Cummings
- , Christoph Engel
- , Claudia Fornes
- , Cristian Valenzuela
- , Cristina Alenda
- , Daniel Buchanan
- , Daniela Barana
- , Darina Konstantinova
- , Dianne Cairns
- , Elizabeth Glaser
- , Felipe Silva
- , Fiona Lalloo
- , Francesca Crucianelli
- , Frans Hogervorst
- , Graham Casey
- , Ian Tomlinson
- , Ignacio Blanco
- , Isabel López Villar
- , Javier Garcia-Planells
- , Jeanette Bigler
- , Jinru Shia
- , Joaquin Martinez-Lopez
- , Johan J P Gille
- , John Hopper
- , John Potter
- , José Luis Soto
- , Jukka Kantelinen
- , Kate Ellis
- , Kirsty Mann
- , Liliana Varesco
- , Liying Zhang
- , Loic Le Marchand
- , Makia J Marafie
- , Margareta Nordling
- , Maria Grazia Tibiletti
- , Mariano Ariel Kahan
- , Marjolijn Ligtenberg
- , Mark Clendenning
- , Mark Jenkins
- , Marsha Speevak
- , Martin Digweed
- , Matthias Kloor
- , Megan Hitchins
- , Megan Myers
- , Melyssa Aronson
- , Mev Dominguez Valentin
- , Michael Kutsche
- , Michael Parsons
- , Michael Walsh
- , Minttu Kansikas
- , Mohd Nizam Zahary
- , Monica Pedroni
- , Nao Heider
- , Nicola Poplawski
- , Nils Rahner
- , Noralane M Lindor
- , Paola Sala
- , Peng Nan
- , Peter Propping
- , Polly Newcomb
- , Rajiv Sarin
- , Robert Haile
- , Robert Hofstra
- , Robyn Ward
- , Rossella Tricarico
- , Ruben Bacares
- , Sean Young
- , Sergio Chialina
- , Serguei Kovalenko
- , Shanaka R Gunawardena
- , Sira Moreno
- , Siu Lun Ho
- , Siu Tsan Yuen
- , Stephen N Thibodeau
- , Steve Gallinger
- , Terrilea Burnett
- , Therese Teitsch
- , Tsun Leung Chan
- , Tom Smyrk
- , Treena Cranston
- , Vasiliki Psofaki
- , Verena Steinke-Lange
- & Victor-Manuel Barbera
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Research |
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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 |
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Research |
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Research | | Open
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
- Montse Olivé
- , Martin Engvall
- , Gianina Ravenscroft
- , Macarena Cabrera-Serrano
- , Hong Jiao
- , Carlo Augusto Bortolotti
- , Marcello Pignataro
- , Matteo Lambrughi
- , Haibo Jiang
- , Alistair R. R. Forrest
- , Núria Benseny-Cases
- , Stefan Hofbauer
- , Christian Obinger
- , Gianantonio Battistuzzi
- , Marzia Bellei
- , Marco Borsari
- , Giulia Di Rocco
- , Helena M. Viola
- , Livia C. Hool
- , Josep Cladera
- , Kristina Lagerstedt-Robinson
- , Fengqing Xiang
- , Anna Wredenberg
- , Francesc Miralles
- , Juan José Baiges
- , Edoardo Malfatti
- , Norma B. Romero
- , Nathalie Streichenberger
- , Christophe Vial
- , Kristl G. Claeys
- , Chiara S. M. Straathof
- , An Goris
- , Christoph Freyer
- , Martin Lammens
- , Guillaume Bassez
- , Juha Kere
- , Paula Clemente
- , Thomas Sejersen
- , Bjarne Udd
- , Noemí Vidal
- , Isidre Ferrer
- , Lars Edström
- , Anna Wedell
- & Nigel G. Laing
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Research |
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Research |
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9
- Emma Tham
- , Erik A Eklund
- , Anna Hammarsjö
- , Per Bengtson
- , Stefan Geiberger
- , Kristina Lagerstedt-Robinson
- , Helena Malmgren
- , Daniel Nilsson
- , Gintautas Grigelionis
- , Peter Conner
- , Peter Lindgren
- , Anna Lindstrand
- , Anna Wedell
- , Margareta Albåge
- , Katarzyna Zielinska
- , Ann Nordgren
- , Nikos Papadogiannakis
- , Gen Nishimura
- & Giedre Grigelioniene
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Research |
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update
- Claire Laure Navarro
- , Vera Esteves-Vieira
- , Sébastien Courrier
- , Amandine Boyer
- , Thuy Duong Nguyen
- , Le Thi Thanh Huong
- , Peter Meinke
- , Winnie Schröder
- , Valérie Cormier-Daire
- , Yves Sznajer
- , David J Amor
- , Kristina Lagerstedt
- , Martine Biervliet
- , Peter C van den Akker
- , Pierre Cau
- , Patrice Roll
- , Nicolas Lévy
- , Catherine Badens
- , Manfred Wehnert
- & Annachiara De Sandre-Giovannoli
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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
