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Showing 1–11 of 11 results
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Research | | Open
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
- Sacha Ferdinandusse
- , Kirsty McWalter
- , Heleen te Brinke
- , Lodewijk IJlst
- , Petra M. Mooijer
- , Jos P. N. Ruiter
- , Alida E. M. van Lint
- , Mia Pras-Raves
- , Eric Wever
- , Francisca Millan
- , Maria J. Guillen Sacoto
- , Amber Begtrup
- , Mark Tarnopolsky
- , Lauren Brady
- , Roger L. Ladda
- , Susan L. Sell
- , Catherine B. Nowak
- , Jessica Douglas
- , Cuixia Tian
- , Elizabeth Ulm
- , Seth Perlman
- , Arlene V. Drack
- , Karen Chong
- , Nicole Martin
- , Jennifer Brault
- , Elly Brokamp
- , Camilo Toro
- , William A. Gahl
- , Ellen F. Macnamara
- , Lynne Wolfe
- , Mercedes E. Alejandro
- , Mahshid S. Azamian
- , Carlos A. Bacino
- , Ashok Balasubramanyam
- , Lindsay C. Burrage
- , Hsiao-Tuan Chao
- , Gary D. Clark
- , William J. Craigen
- , Hongzheng Dai
- , Shweta U. Dhar
- , Lisa T. Emrick
- , Alica M. Goldman
- , Neil A. Hanchard
- , Fariha Jamal
- , Lefkothea Karaviti
- , Seema R. Lalani
- , Brendan H. Lee
- , Richard A. Lewis
- , Ronit Marom
- , Paolo M. Moretti
- , David R. Murdock
- , Sarah K. Nicholas
- , James P. Orengo
- , Jennifer E. Posey
- , Lorraine Potocki
- , Jill A. Rosenfeld
- , Susan L. Samson
- , Daryl A. Scott
- , Alyssa A. Tran
- , Tiphanie P. Vogel
- , Michael F. Wangler
- , Shinya Yamamoto
- , Christine M. Eng
- , Pengfei Liu
- , Patricia A. Ward
- , Edward Behrens
- , Matthew Deardorff
- , Marni Falk
- , Kelly Hassey
- , Kathleen Sullivan
- , Adeline Vanderver
- , David B. Goldstein
- , Heidi Cope
- , Allyn McConkie-Rosell
- , Kelly Schoch
- , Vandana Shashi
- , Edward C. Smith
- , Rebecca C. Spillmann
- , Jennifer A. Sullivan
- , Queenie K.-G. Tan
- , Nicole M. Walley
- , Pankaj B. Agrawal
- , Alan H. Beggs
- , Gerard T. Berry
- , Lauren C. Briere
- , Laurel A. Cobban
- , Matthew Coggins
- , Cynthia M. Cooper
- , Elizabeth L. Fieg
- , Frances High
- , Ingrid A. Holm
- , Susan Korrick
- , Joel B. Krier
- , Sharyn A. Lincoln
- , Joseph Loscalzo
- , Richard L. Maas
- , Calum A. MacRae
- , J. Carl Pallais
- , Deepak A. Rao
- , Lance H. Rodan
- , Edwin K. Silverman
- , Joan M. Stoler
- , David A. Sweetser
- , Melissa Walker
- , Chris A. Walsh
- , Cecilia Esteves
- , Emily G. Kelley
- , Isaac S. Kohane
- , Kimberly LeBlanc
- , Alexa T. McCray
- , Anna Nagy
- , Surendra Dasari
- , Brendan C. Lanpher
- , Ian R. Lanza
- , Eva Morava
- , Devin Oglesbee
- , Guney Bademci
- , Deborah Barbouth
- , Stephanie Bivona
- , Olveen Carrasquillo
- , Ta Chen Peter Chang
- , Irman Forghani
- , Alana Grajewski
- , Rosario Isasi
- , Byron Lam
- , Roy Levitt
- , Xue Zhong Liu
- , Jacob McCauley
- , Ralph Sacco
- , Mario Saporta
- , Judy Schaechter
- , Mustafa Tekin
- , Fred Telischi
- , Willa Thorson
- , Stephan Zuchner
- , Heather A. Colley
- , Jyoti G. Dayal
- , David J. Eckstein
- , Laurie C. Findley
- , Donna M. Krasnewich
- , Laura A. Mamounas
- , Teri A. Manolio
- , John J. Mulvihill
- , Grace L. LaMoure
- , Madison P. Goldrich
- , Tiina K. Urv
- , Argenia L. Doss
- , Maria T. Acosta
- , Carsten Bonnenmann
- , Precilla D’Souza
- , David D. Draper
- , Carlos Ferreira
- , Rena A. Godfrey
- , Catherine A. Groden
- , Ellen F. Macnamara
- , Valerie V. Maduro
- , Thomas C. Markello
- , Avi Nath
- , Donna Novacic
- , Barbara N. Pusey
- , Camilo Toro
- , Colleen E. Wahl
- , Eva Baker
- , Elizabeth A. Burke
- , David R. Adams
- , William A. Gahl
- , May Christine V. Malicdan
- , Cynthia J. Tifft
- , Lynne A. Wolfe
- , John Yang
- , Bradley Power
- , Bernadette Gochuico
- , Laryssa Huryn
- , Lea Latham
- , Joie Davis
- , Deborah Mosbrook-Davis
- , Francis Rossignol
- , Ben Solomon
- , John MacDowall
- , Audrey Thurm
- , Wadih Zein
- , Muhammad Yousef
- , Margaret Adam
- , Laura Amendola
- , Michael Bamshad
- , Anita Beck
- , Jimmy Bennett
- , Beverly Berg-Rood
- , Elizabeth Blue
- , Brenna Boyd
- , Peter Byers
- , Sirisak Chanprasert
- , Michael Cunningham
- , Katrina Dipple
- , Daniel Doherty
- , Dawn Earl
- , Ian Glass
- , Katie Golden-Grant
- , Sihoun Hahn
- , Anne Hing
- , Fuki M. Hisama
- , Martha Horike-Pyne
- , Gail P. Jarvik
- , Jeffrey Jarvik
- , Suman Jayadev
- , Christina Lam
- , Kenneth Maravilla
- , Heather Mefford
- , J. Lawrence Merritt
- , Ghayda Mirzaa
- , Deborah Nickerson
- , Wendy Raskind
- , Natalie Rosenwasser
- , C. Ron Scott
- , Angela Sun
- , Virginia Sybert
- , Stephanie Wallace
- , Mark Wener
- , Tara Wenger
- , Euan A. Ashley
- , Gill Bejerano
- , Jonathan A. Bernstein
- , Devon Bonner
- , Terra R. Coakley
- , Liliana Fernandez
- , Paul G. Fisher
- , Laure Fresard
- , Jason Hom
- , Yong Huang
- , Jennefer N. Kohler
- , Elijah Kravets
- , Marta M. Majcherska
- , Beth A. Martin
- , Shruti Marwaha
- , Colleen E. McCormack
- , Archana N. Raja
- , Chloe M. Reuter
- , Maura Ruzhnikov
- , Jacinda B. Sampson
- , Kevin S. Smith
- , Shirley Sutton
- , Holly K. Tabor
- , Brianna M. Tucker
- , Matthew T. Wheeler
- , Diane B. Zastrow
- , Chunli Zhao
- , William E. Byrd
- , Andrew B. Crouse
- , Matthew Might
- , Mariko Nakano-Okuno
- , Jordan Whitlock
- , Gabrielle Brown
- , Manish J. Butte
- , Esteban C. Dell’Angelica
- , Naghmeh Dorrani
- , Emilie D. Douine
- , Brent L. Fogel
- , Irma Gutierrez
- , Alden Huang
- , Deborah Krakow
- , Hane Lee
- , Sandra K. Loo
- , Bryan C. Mak
- , Martin G. Martin
- , Julian A. Martínez-Agosto
- , Elisabeth McGee
- , Stanley F. Nelson
- , Shirley Nieves-Rodriguez
- , Christina G. S. Palmer
- , Jeanette C. Papp
- , Neil H. Parker
- , Genecee Renteria
- , Rebecca H. Signer
- , Janet S. Sinsheimer
- , Jijun Wan
- , Lee-kai Wang
- , Katherine Wesseling Perry
- , Jeremy D. Woods
- , Justin Alvey
- , Ashley Andrews
- , Jim Bale
- , John Bohnsack
- , Lorenzo Botto
- , John Carey
- , Laura Pace
- , Nicola Longo
- , Gabor Marth
- , Paolo Moretti
- , Aaron Quinlan
- , Matt Velinder
- , Dave Viskochil
- , Pinar Bayrak-Toydemir
- , Rong Mao
- , Monte Westerfield
- , Anna Bican
- , Elly Brokamp
- , Laura Duncan
- , Rizwan Hamid
- , Jennifer Kennedy
- , Mary Kozuira
- , John H. Newman
- , John A. Phillips III
- , Lynette Rives
- , Amy K. Robertson
- , Emily Solem
- , Joy D. Cogan
- , F. Sessions Cole
- , Nichole Hayes
- , Dana Kiley
- , Kathy Sisco
- , Jennifer Wambach
- , Daniel Wegner
- , Dustin Baldridge
- , Stephen Pak
- , Timothy Schedl
- , Jimann Shin
- , Lilianna Solnica-Krezel
- , Quinten Waisfisz
- , Petra J. G. Zwijnenburg
- , Alban Ziegler
- , Magalie Barth
- , Rosemarie Smith
- , Sara Ellingwood
- , Deborah Gaebler-Spira
- , Somayeh Bakhtiari
- , Michael C. Kruer
- , Antoine H. C. van Kampen
- , Ronald J. A. Wanders
- , Hans R. Waterham
- , David Cassiman
- & Frédéric M. Vaz
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Research |
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
- Shereen G. Ghosh
- , Marcello Scala
- , Christian Beetz
- , Guy Helman
- , Valentina Stanley
- , Xiaoxu Yang
- , Martin W. Breuss
- , Neda Mazaheri
- , Laila Selim
- , Fatemeh Hadipour
- , Lynn Pais
- , Chloe A. Stutterd
- , Vasiliki Karageorgou
- , Amber Begtrup
- , Amy Crunk
- , Jane Juusola
- , Rebecca Willaert
- , Leigh A. Flore
- , Kelly Kennelly
- , Christopher Spencer
- , Martha Brown
- , Pamela Trapane
- , Anna C. E. Hurst
- , S. Lane Rutledge
- , Dana H. Goodloe
- , Marie T. McDonald
- , Vandana Shashi
- , Kelly Schoch
- , Hoda Tomoum
- , Raghda Zaitoun
- , Zahra Hadipour
- , Hamid Galehdari
- , Alistair T. Pagnamenta
- , Majid Mojarrad
- , Alireza Sedaghat
- , Patrícia Dias
- , Sofia Quintas
- , Atiyeh Eslahi
- , Gholamreza Shariati
- , Peter Bauer
- , Cas Simons
- , Henry Houlden
- , Mahmoud Y. Issa
- , Maha S. Zaki
- , Reza Maroofian
- & Joseph G. Gleeson
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Research | | Open
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
- Theresa Brunet
- , Kirsty McWalter
- , Katharina Mayerhanser
- , Grace M. Anbouba
- , Amy Armstrong-Javors
- , Ingrid Bader
- , Evan Baugh
- , Amber Begtrup
- , Caleb P. Bupp
- , Bert L. Callewaert
- , Anna Cereda
- , Margot A. Cousin
- , Juan C. Del Rey Jimenez
- , Laurie Demmer
- , Nikita R. Dsouza
- , Nicole Fleischer
- , Ralitza H. Gavrilova
- , Sumedha Ghate
- , Elisabeth Graf
- , Andrew Green
- , Sarah R. Green
- , Maria Iascone
- , Ameni Kdissa
- , Dirk Klee
- , Eric W. Klee
- , Emily Lancaster
- , Kristin Lindstrom
- , Johannes A. Mayr
- , Meriel McEntagart
- , Naomi J. L. Meeks
- , Dana Mittag
- , Harrison Moore
- , Anne K. Olsen
- , Damara Ortiz
- , Gretchen Parsons
- , Loren D. M. Pena
- , Richard E. Person
- , Sumit Punj
- , Gonzalo Alonso Ramos-Rivera
- , Maria J. Guillen Sacoto
- , G. Bradley Schaefer
- , Rhonda E. Schnur
- , Tiana M. Scott
- , Daryl A. Scott
- , Carolyn R. Serbinski
- , Vandana Shashi
- , Victoria M. Siu
- , Barbro Fossøy Stadheim
- , Jennifer A. Sullivan
- , Jana Švantnerová
- , Lea Velsher
- , David S. Wargowski
- , Ingrid M. Wentzensen
- , Dagmar Wieczorek
- , Juliane Winkelmann
- , Patrick Yap
- , Michael Zech
- , Michael T. Zimmermann
- , Thomas Meitinger
- , Felix Distelmaier
- & Matias Wagner
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Research | | Open
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
- Anaïs Begemann
- , Heinrich Sticht
- , Amber Begtrup
- , Antonio Vitobello
- , Laurence Faivre
- , Siddharth Banka
- , Bader Alhaddad
- , Reza Asadollahi
- , Jessica Becker
- , Tatjana Bierhals
- , Kathleen E. Brown
- , Ange-Line Bruel
- , Theresa Brunet
- , Maryline Carneiro
- , Kirsten Cremer
- , Robert Day
- , Anne-Sophie Denommé-Pichon
- , Dave A. Dyment
- , Hartmut Engels
- , Rachel Fisher
- , Elaine S. Goh
- , M. J. Hajianpour
- , Lucia Ribeiro Machado Haertel
- , Nadine Hauer
- , Maja Hempel
- , Theresia Herget
- , Jessika Johannsen
- , Cornelia Kraus
- , Gwenaël Le Guyader
- , Gaetan Lesca
- , Frédéric Tran Mau-Them
- , John Henry McDermott
- , Kirsty McWalter
- , Pierre Meyer
- , Katrin Õunap
- , Bernt Popp
- , Tiia Reimand
- , Korbinian M. Riedhammer
- , Martina Russo
- , Lynette G. Sadleir
- , Margarita Saenz
- , Manuel Schiff
- , Elisabeth Schuler
- , Steffen Syrbe
- , Amelie Theresa Van der Ven
- , Alain Verloes
- , Marjolaine Willems
- , Christiane Zweier
- , Katharina Steindl
- , Markus Zweier
- & Anita Rauch
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Research |
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment
- Volkan Okur
- , Megan T. Cho
- , Richard van Wijk
- , Brigitte van Oirschot
- , Jonathan Picker
- , Stephanie A. Coury
- , Dorothy Grange
- , Linda Manwaring
- , Ian Krantz
- , Colleen Clark Muraresku
- , Peter J. Hulick
- , Holley May
- , Eric Pierce
- , Emily Place
- , Kinga Bujakowska
- , Aida Telegrafi
- , Ganka Douglas
- , Kristin G. Monaghan
- , Amber Begtrup
- , Ashley Wilson
- , Kyle Retterer
- , Kwame Anyane-Yeboa
- & Wendy K. Chung
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Amendments and Corrections | | Open
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
- Jennifer N. Dines
- , Katie Golden-Grant
- , Amy LaCroix
- , Alison M. Muir
- , Dianne Laboy Cintrón
- , Kirsty McWalter
- , Megan T. Cho
- , Angela Sun
- , J. Lawrence Merritt
- , Jenny Thies
- , Dmitriy Niyazov
- , Barbara Burton
- , Katherine Kim
- , Leah Fleming
- , Rachel Westman
- , Peter Karachunski
- , Joline Dalton
- , Alice Basinger
- , Can Ficicioglu
- , Ingo Helbig
- , Manuela Pendziwiat
- , Hiltrud Muhle
- , Katherine L. Helbig
- , Almuth Caliebe
- , René Santer
- , Kolja Becker
- , Sharon Suchy
- , Ganka Douglas
- , Francisca Millan
- , Amber Begtrup
- , Kristin G. Monaghan
- & Heather C. Mefford
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Research | | Open
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
- Jennifer N. Dines
- , Katie Golden-Grant
- , Amy LaCroix
- , Alison M. Muir
- , Dianne Laboy Cintrón
- , Kirsty McWalter
- , Megan T. Cho
- , Angela Sun
- , J. Lawrence Merritt
- , Jenny Thies
- , Dmitriy Niyazov
- , Barbara Burton
- , Katherine Kim
- , Leah Fleming
- , Rachel Westman
- , Peter Karachunski
- , Joline Dalton
- , Alice Basinger
- , Can Ficicioglu
- , Ingo Helbig
- , Manuela Pendziwiat
- , Hiltrud Muhle
- , Katherine L. Helbig
- , Almuth Caliebe
- , René Santer
- , Kolja Becker
- , Sharon Suchy
- , Ganka Douglas
- , Francisca Millan
- , Amber Begtrup
- , Kristin G. Monaghan
- & Heather C. Mefford
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Research |
2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases
- Ange-Line Bruel
- , Antonio Vitobello
- , Frédéric Tran Mau-Them
- , Sophie Nambot
- , Yannis Duffourd
- , Virginie Quéré
- , Paul Kuentz
- , Philippine Garret
- , Julien Thevenon
- , Sébastien Moutton
- , Daphné Lehalle
- , Nolwenn Jean-Marçais
- , Aurore Garde
- , Julian Delanne
- , Mathilde Lefebvre
- , François Lecoquierre
- , Detlef Trost
- , Megan Cho
- , Amber Begtrup
- , Aida Telegrafi
- , Pierre Vabres
- , Anne-Laure Mosca-Boidron
- , Patrick Callier
- , Christophe Philippe
- , Laurence Faivre
- & Christel Thauvin-Robinet
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Research | | Open
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
- Holger Hengel
- , Célia Bosso-Lefèvre
- , George Grady
- , Emmanuelle Szenker-Ravi
- , Hankun Li
- , Sarah Pierce
- , Élise Lebigot
- , Thong-Teck Tan
- , Michelle Y. Eio
- , Gunaseelan Narayanan
- , Kagistia Hana Utami
- , Monica Yau
- , Nader Handal
- , Werner Deigendesch
- , Reinhard Keimer
- , Hiyam M. Marzouqa
- , Meral Gunay-Aygun
- , Michael J. Muriello
- , Helene Verhelst
- , Sarah Weckhuysen
- , Sonal Mahida
- , Sakkubai Naidu
- , Terrence G. Thomas
- , Jiin Ying Lim
- , Ee Shien Tan
- , Damien Haye
- , Michèl A. A. P. Willemsen
- , Renske Oegema
- , Wendy G. Mitchell
- , Tyler Mark Pierson
- , Marisa V. Andrews
- , Marcia C. Willing
- , Lance H. Rodan
- , Tahsin Stefan Barakat
- , Marjon van Slegtenhorst
- , Ralitza H. Gavrilova
- , Diego Martinelli
- , Tal Gilboa
- , Abdullah M. Tamim
- , Mais O. Hashem
- , Moeenaldeen D. AlSayed
- , Maha M. Abdulrahim
- , Mohammed Al-Owain
- , Ali Awaji
- , Adel A. H. Mahmoud
- , Eissa A. Faqeih
- , Ali Al Asmari
- , Sulwan M. Algain
- , Lamyaa A. Jad
- , Hesham M. Aldhalaan
- , Ingo Helbig
- , David A. Koolen
- , Angelika Riess
- , Ingeborg Kraegeloh-Mann
- , Peter Bauer
- , Suleyman Gulsuner
- , Hannah Stamberger
- , Alvin Yu Jin Ng
- , Sha Tang
- , Sumanty Tohari
- , Boris Keren
- , Laura E. Schultz-Rogers
- , Eric W. Klee
- , Sabina Barresi
- , Marco Tartaglia
- , Hagar Mor-Shaked
- , Sateesh Maddirevula
- , Amber Begtrup
- , Aida Telegrafi
- , Rolph Pfundt
- , Rebecca Schüle
- , Brian Ciruna
- , Carine Bonnard
- , Mahmoud A. Pouladi
- , James C. Stewart
- , Adam Claridge-Chang
- , Dirk J. Lefeber
- , Fowzan S. Alkuraya
- , Ajay S. Mathuru
- , Byrappa Venkatesh
- , Joseph J. Barycki
- , Melanie A. Simpson
- , Saumya S. Jamuar
- , Ludger Schöls
- & Bruno Reversade
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Research |
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
- Daniela A Braun
- , Jia Rao
- , Geraldine Mollet
- , David Schapiro
- , Marie-Claire Daugeron
- , Weizhen Tan
- , Olivier Gribouval
- , Olivia Boyer
- , Patrick Revy
- , Tilman Jobst-Schwan
- , Johanna Magdalena Schmidt
- , Jennifer A Lawson
- , Denny Schanze
- , Shazia Ashraf
- , Jeremy F P Ullmann
- , Charlotte A Hoogstraten
- , Nathalie Boddaert
- , Bruno Collinet
- , Gaëlle Martin
- , Dominique Liger
- , Svjetlana Lovric
- , Monica Furlano
- , I Chiara Guerrera
- , Oraly Sanchez-Ferras
- , Jennifer F Hu
- , Anne-Claire Boschat
- , Sylvia Sanquer
- , Björn Menten
- , Sarah Vergult
- , Nina De Rocker
- , Merlin Airik
- , Tobias Hermle
- , Shirlee Shril
- , Eugen Widmeier
- , Heon Yung Gee
- , Won-Il Choi
- , Carolin E Sadowski
- , Werner L Pabst
- , Jillian K Warejko
- , Ankana Daga
- , Tamara Basta
- , Verena Matejas
- , Karin Scharmann
- , Sandra D Kienast
- , Babak Behnam
- , Brendan Beeson
- , Amber Begtrup
- , Malcolm Bruce
- , Gaik-Siew Ch'ng
- , Shuan-Pei Lin
- , Jui-Hsing Chang
- , Chao-Huei Chen
- , Megan T Cho
- , Patrick M Gaffney
- , Patrick E Gipson
- , Chyong-Hsin Hsu
- , Jameela A Kari
- , Yu-Yuan Ke
- , Cathy Kiraly-Borri
- , Wai-ming Lai
- , Emmanuelle Lemyre
- , Rebecca Okashah Littlejohn
- , Amira Masri
- , Mastaneh Moghtaderi
- , Kazuyuki Nakamura
- , Fatih Ozaltin
- , Marleen Praet
- , Chitra Prasad
- , Agnieszka Prytula
- , Elizabeth R Roeder
- , Patrick Rump
- , Rhonda E Schnur
- , Takashi Shiihara
- , Manish D Sinha
- , Neveen A Soliman
- , Kenza Soulami
- , David A Sweetser
- , Wen-Hui Tsai
- , Jeng-Daw Tsai
- , Rezan Topaloglu
- , Udo Vester
- , David H Viskochil
- , Nithiwat Vatanavicharn
- , Jessica L Waxler
- , Klaas J Wierenga
- , Matthias T F Wolf
- , Sik-Nin Wong
- , Sebastian A Leidel
- , Gessica Truglio
- , Peter C Dedon
- , Annapurna Poduri
- , Shrikant Mane
- , Richard P Lifton
- , Maxime Bouchard
- , Peter Kannu
- , David Chitayat
- , Daniella Magen
- , Bert Callewaert
- , Herman van Tilbeurgh
- , Martin Zenker
- , Corinne Antignac
- & Friedhelm Hildebrandt
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Research | | Open
