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- 2021 Genetics in Medicine
- Alexandra Scott
- Niccolò Di Giosaffatte
- Valentina Pinna
- Paola Daniele
- Sara Corno
- Valentina DAmbrosio
- Elena Andreucci
- Annabella Marozza
- Fabio Sirchia
- Giada Tortora
- Daniela Mangiameli
- Chiara Di Marco
- Maria Romagnoli
- Ilaria Donati
- Andrea Zonta
- Enrico Grosso
- Valeria Giorgia Naretto
- Gioia Mastromoro
- Paolo Versacci
- Francesca Pantaleoni
- Francesca Clementina Radio
- Tommaso Mazza
- Giuseppe Damante
- Laura Papi
- Teresa Mattina
- Antonella Giancotti
- Antonio Pizzuti
- Anne-Marie Laberge
- Marco Tartaglia
- M. Delrue
- Alessandro De Luca
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Citations (3) - 2018 Human Mutation
- Dorien Schepers
- Giada Tortora
- Hiroko Morisaki
- Gretchen MacCarrick
- Mark E. Lindsay
- David Liang
- Sarju G. Mehta
- Jennifer Hague
- Judith M.A. Verhagen
- Ingrid M. B. H. van de Laar
- Marja W. Wessels
- Yvonne Detisch
- Mieke M. van Haelst
- Annette F. Baas
- Klaske D. Lichtenbelt
- Kees P. J. Braun
- Denise van der Linde
- Jolien W. Roos-Hesselink
- George McGillivray
- Josephina Meester
- Isabelle Maystadt
- Paul Coucke
- Elie El-khoury
- Sandhya Parkash
- Birgitte Rode Diness
- Lotte Risom
- Ingrid Scurr
- Yvonne Hilhorst-Hofstee
- Takayuki Morisaki
- Julie Richer
- Julie Désir
- Marlies Kempers
- Andrea L. Rideout
- Gabrielle Horne
- Christopher Bennett
- Elisa Rahikkala
- Geert Vandeweyer
- Maaike Alaerts
- Aline Verstraeten
- Harry C. Dietz
- Lut Van Laer
- Bart Loeys
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