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- 2021 Lancet Neurology
- Benedikt Schoser
- Mark Roberts
- Barry J. Byrne
- Sheela Sitaraman
- Hai Jiang
- Pascal Laforět
- Antonio Toscano
- Jeff Castelli
- Jordi Díaz-Manera
- Mitchell Goldman
- Ans T. van der Ploeg
- Drago Bratkovic
- Srilakshmi Kuchipudi
- Tahseen Mozaffar
- Priya S. Kishnani
- Ágnes Sebök
- Alan Pestronk
- Aleksandra Dominovic-Kovacevic
- Aneal Khan
- Blaž Koritnik
- Céline Tard
- Christopher Lindberg
- Colin Quinn
- Crystal Eldridge
- Cynthia Bodkin
- David Reyes-Leiva
- Derralynn Hughes
- Ela Stefanescu
- Emmanuelle Salort-Campana
- Ernest Butler
- Françoise Bouhour
- Gee Kim
- George-Konstantinos Papadimas
- Giancarlo Parenti
- Halina Bartosik-Psujek
- Hani Kushlaf
- Hashiguchi Akihiro
- Heather Lau
- Helio Pedro
- Henning Andersen
- Hernán Amartino
- Hideaki Shiraishi
- Hiroshi Kobayashi
- Ivaylo Tarnev
- Jaime Vengoechea
- Jennifer B Avelar
- Jin Hong Shin
- Jonathan Cauci
- Jorge Alonso-Pérez
- Jozsef Janszky
- Julie Berthy
- Kornblum Cornelia
- Kristina Gutschmidt
- Kristl Claeys
- Mária Judit Molnár
- Marie Wencel
- Mark Tarnopolsky
- Mazen M. Dimachkie
- Michel Tchan
- Miriam Freimer
- Nicola Longo
- Nuria Vidal-Fernández
- Olimpia Musumeci
- Ozlem Goker-Alpan
- Patrick Deegan
- Paula R. Clemens
- Richard Roxburgh
- Robert D. Henderson
- Robert Hopkin
- Sabrina Sacconi
- Simona Fecarotta
- Shahram Attarian
- Stephan Wenninger
- Stephanie DeArmey
- Tarekegn Hiwot
- Thomas Burrow
- Tobias Ruck
- Tomo Sawada
- Vescei Laszlo
- Wolfgang Löscher
- Yin-Hsiu Chien
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Citations (0) - 2017 Genetics in Medicine
- Elfrida R. Benjamin
- Maria Cecilia Della Valle
- Xiaoyang Wu
- Evan Katz
- Farhana Pruthi
- Sarah Bond
- Benjamin Bronfin
- Hadis Williams
- Julie Yu
- Daniel G. Bichet
- Dominique P. Germain
- Roberto Giugliani
- Derralynn Hughes
- Raphael Schiffmann
- William R. Wilcox
- Robert J. Desnick
- John Kirk
- Jay Barth
- Carrolee Barlow
- Kenneth J. Valenzano
- Jeff Castelli
- David J. Lockhart
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- Dominique P. Germain
- Derralynn Hughes
- Kathleen Nicholls
- Daniel G. Bichet
- Roberto Giugliani
- William R. Wilcox
- Claudio Feliciani
- Suma P. Shankar
- Fatih Süheyl Ezgü
- Hernán Amartino
- Drago Bratkovic
- Ulla Feldt-Rasmussen
- Khan Nedd
- Usama Sharaf El Din
- Charles Marques Lourenço
- Maryam Banikazemi
- Joel Charrow
- Majed Dasouki
- David N. Finegold
- Pilar Giraldo
- Ozlem Goker-Alpan
- Nicola Longo
- C. Ronald Scott
- Roser Torra
- Ahmad Tuffaha
- Ana Jovanovic
- Stephen Waldek
- Seymour Packman
- Elizabeth Ludington
- Christopher Viereck
- John Kirk
- Julie Yu
- Elfrida R. Benjamin
- Franklin K. Johnson
- David J. Lockhart
- Nina Skuban
- Jeff Castelli
- Jay Barth
- Carrolee Barlow
- Raphael Schiffmann
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