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- 2021 Clinical Genetics
- Ilaria Parenti
- Mark B. Mallozzi
- Irina Hüning
- Cristina Gervasini
- Alma Kuechler
- Emanuele Agolini
- Beate Albrecht
- Carolina Baquero-Montoya
- Axel Bohring
- Nuria C. Bramswig
- Andreas Busche
- Andreas Dalski
- Yiran Guo
- Britta Hanker
- Yorck Hellenbroich
- Denise Horn
- A. Micheil Innes
- Chiara Leoni
- Yun Li
- Sally Ann Lynch
- Milena Mariani
- Livija Medne
- Barbara Mikat
- Donatella Milani
- Roberta Onesimo
- Xilma R. Ortiz-Gonzalez
- Eva-Christina Prott
- Heiko Reutter
- Eva Rossier
- Angelo Selicorni
- Peter Wieacker
- Alisha Wilkens
- Dagmar Wieczorek
- Elaine H. Zackai
- Giuseppe Zampino
- Birgit Zirn
- Hakon Hakonarson
- Matthew A. Deardorff
- Gabriele Gillessen-Kaesbach
- Frank J. Kaiser
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Citations (23) - 2019 Genetics in Medicine
- Kathleen A. Williamson
- H. Nikki Hall
- Liusaidh J. Owen
- Benjamin J. Livesey
- Isabel M. Hanson
- Gill Adams
- Simon Bodek
- Patrick Calvas
- Bruce Castle
- Michael P. Clarke
- Alexander T Deng
- Patrick Edery
- Richard Fisher
- Gabriele Gillessen-Kaesbach
- Elise Héon
- Jane A. Hurst
- Dragana Josifova
- Birgit Lorenz
- Shane McKee
- Françoise Meire
- Anthony T. Moore
- Michael Parker
- Charlotte M. Reiff
- Jay E. Self
- Edward S. Tobias
- Joke B. G. M. Verheij
- Marjolaine Willems
- Denise Williams
- Veronica van Heyningen
- Joseph A. Marsh
- David Fitzpatrick
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Citations (22) -
- Stefano Paolacci
- Yun Li
- Emanuele Agolini
- Emanuele Bellacchio
- Carlos E. Arboleda-Bustos
- Dido Carrero
- Débora Romeo Bertola
- Lihadh Al Gazali
- Mariel Alders
- Janine Altmüller
- Gonzalo Arboleda
- Filippo Beleggia
- Alessandro Bruselles
- Andrea Ciolfi
- Gabriele Gillessen-Kaesbach
- Thomas Krieg
- Shehla Mohammed
- Christian Müller
- Antonio Novelli
- Jenny Ortega
- Adrián G Sandoval
- Gloria Velasco
- Gökhan Yigit
- Humberto Arboleda
- Carlos López-Otín
- Bernd Wollnik
- Marco Tartaglia
- Raoul C. M. Hennekam
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