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- 2020 Genetics in Medicine
- Dominic Lenz
- Desirée E.C. Smith
- Ellen Crushell
- Ralf A. Husain
- Gajja S. Salomons
- Bader Alhaddad
- Jonathan A. Bernstein
- Alyssa Bianzano
- Saskia Biskup
- Heiko Brennenstuhl
- Dominique Caldari
- Nicola Dikow
- Tobias B. Haack
- Andrea Hanson-Kahn
- Inga Harting
- Denise Horn
- Joanne Hughes
- Maya Huijberts
- Bertrand Isidor
- S. Kathemann
- Robert Kopajtich
- Urania Kotzaeridou
- Sébastien Küry
- Elke Lainka
- Lucia Laugwitz
- James R. Lupski
- Jennifer E. Posey
- Claire Reynolds
- Jill A. Rosenfeld
- Julian Schröter
- Fleur Vansenne
- Matias Wagner
- Claudia Weiß
- Bruce H. R. Wolffenbuttel
- Saskia B. Wortmann
- Stefan Kölker
- Georg F. Hoffmann
- Holger Prokisch
- Marisa I. S. Mendes
- Christian Staufner
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Citations (15) -
- Andreea Manole
- Stephanie Efthymiou
- Emer O’Connor
- Marisa I. S. Mendes
- Matthew Jennings
- Reza Maroofian
- Indran Davagnanam
- Kshitij Mankad
- María Rodríguez-López
- Vincenzo Salpietro
- Ricardo Harripaul
- Lauren Badalato
- Jagdeep S. Walia
- Christopher S. Francklyn
- Alkyoni Athanasiou-Fragkouli
- Roisin Sullivan
- Sonal Desai
- Kristin W. Barañano
- Faisal Zafar
- Nuzhat Rana
- Muhammed Ilyas
- Alejandro Horga
- Majdi Kara
- Francesca Mattioli
- Alice Goldenberg
- Helen Griffin
- Amélie Piton
- Lindsay B. Henderson
- Benyekhlef Kara
- Ayça Dilruba Aslanger
- Joost Raaphorst
- Rolph Pfundt
- Ruben P. Portier
- Marwan Shinawi
- Amelia Kirby
- Katherine M. Christensen
- Lu Wang
- Rasim Ozgur Rosti
- Sohail A. Paracha
- Muhammad T. Sarwar
- Dagan Jenkins
- Jawad Ahmed
- Federico Santoni
- Emmanuelle Ranza
- Justyna Iwaszkiewicz
- Cheryl Cytrynbaum
- Rosanna Weksberg
- Ingrid M. Wentzensen
- Maria J. Guillen Sacoto
- Yue Si
- Aida Telegrafi
- Marisa V. Andrews
- Dustin Baldridge
- Heinz Gabriel
- Julia Mohr
- Barbara Oehl-Jaschkowitz
- Sylvain Debard
- Bruno Senger
- Frédéric Fischer
- Conny van Ravenwaaij
- Annemarie Fock
- Servi J. C. Stevens
- Jürg Bähler
- Amina Nasar
- John F. Mantovani
- Adnan Y. Manzur
- Anna Sarkozy
- Desirée E.C. Smith
- Gajja S. Salomons
- Zubair M. Ahmed
- Shaikh Riazuddin
- Saima Riazuddin
- Muhammad A. Usmani
- Annette Seibt
- Muhammad Ansar
- Stylianos E. Antonarakis
- John B. Vincent
- Muhammad Ayub
- Mona Grimmel
- Anne Marie Jelsig
- Tina Duelund Hjortshøj
- Helena Gásdal Karstensen
- Marybeth Hummel
- Tobias B. Haack
- Yalda Jamshidi
- Felix Distelmaier
- Rita Horvath
- Joseph G. Gleeson
- Hubert Dominique Becker
- Jean-Louis Mandel
- David A. Koolen
- Henry Houlden
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Citations (6) -
- Marisa I. S. Mendes
- Lydia Green
- Enrico Bertini
- Davide Tonduti
- Chiara Aiello
- Desirée E.C. Smith
- Ettore Salsano
- Shanice Beerepoot
- Jozef Hertecant
- Sarah von Spiczak
- John H. Livingston
- Lisa T. Emrick
- Jamie L. Fraser
- Laura Russell
- Geneviève Bernard
- Stefania Magri
- Daniela Di Bella
- Franco Taroni
- Mary Kay Koenig
- Isabella Moroni
- Gerarda Cappuccio
- Nicola Brunetti-Pierri
- Jullie Rhee
- Bryce A. Mendelsohn
- Ingo Helbig
- Katherine L. Helbig
- Hiltrud Muhle
- Omar Ismayl
- Adeline Vanderver
- Gajja S. Salomons
- Marjo S. van der Knaap
- Nicole I. Wolf
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Citations (9) -
- Arjan F. Theil
- Elena Botta
- Anja Raams
- Desirée E.C. Smith
- Marisa I. S. Mendes
- Giuseppina Caligiuri
- Sarah Giachetti
- Silvia Bione
- Roberta Carriero
- Giordano Liberi
- Luca Zardoni
- Sigrid M.A. Swagemakers
- Gajja S. Salomons
- Alain Sarasin
- Alan R. Lehmann
- Peter J. van der Spek
- Tomoo Ogi
- Jan H. J. Hoeijmakers
- Wim Vermeulen
- Donata Orioli
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