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- M. Scoto
- A. Manzur
- M. Main
- P. Munot
- R. Tillmann
- C. Marini Bettolo
- A. Mayhew
- R. Muni Lofra
- Karen L. White
- Peter Baxter
- S Tirupathi
- I Douglas
- M Douglas
- S. MacAuley
- Anne-Marie Childs
- D. ORourke
- Louise Hartley
- Imelda Hughes
- G McCullagh
- Stefan Spinty
- R. Madhu
- S. Gregson
- Vasantha Gowda
- Elizabeth Wraige
- Iain Horrocks
- A. Brunklaus
- M. Di Marco
- Jennifer Dunne
- Sc Brown
- R. Mochrie
- M. Illingworth
- D. Krishnakumar
- M. Kirkpatrick
- S. Ramdas
- K. Vijayakumar
- V. Selby
- R. Kulshrestha
- T. Willis
- Volker Straub
- Francesco Muntoni
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Citations (5) - 2018 Human Mutation
- I. Zaharieva
- Anna Sarkozy
- P. Munot
- A. Manzur
- Gina L. O'Grady
- John Rendu
- Eduardo Malfatti
- Helge Amthor
- L. Servais
- J. Andoni Urtizberea
- Osorio Abath Neto
- Edmar Zanoteli
- Sandra Donkervoort
- Juliet Taylor
- Joanne Dixon
- G. Poke
- A. Reghan Foley
- Christopher John Holmes
- Glyn Williams
- Muriel Holder
- Sabrina W. Yum
- Livija Medne
- Susana Quijano-Roy
- Norma B. Romero
- Julien Fauré
- L. Feng
- Lailá Bastaki
- Mark R. Davis
- Rahul Phadke
- C. Sewry
- Carsten G. Bönnemann
- Heinz Jungbluth
- Christoph Bachmann
- Susan Treves
- Francesco Muntoni
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