Showing 1–14 of 14 results
-
Research |
-
Research | | Open
-
News and Views |
-
Correspondence |
-
Research |
-
Research | | Open
ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
- Marie F. Smeland
- , Conor McClenaghan
- , Helen I. Roessler
- , Sanne Savelberg
- , Geir Åsmund Myge Hansen
- , Helene Hjellnes
- , Kjell Arne Arntzen
- , Kai Ivar Müller
- , Andreas Rosenberger Dybesland
- , Theresa Harter
- , Monica Sala-Rabanal
- , Chris H. Emfinger
- , Yan Huang
- , Soma S. Singareddy
- , Jamie Gunn
- , David F. Wozniak
- , Attila Kovacs
- , Maarten Massink
- , Federico Tessadori
- , Sarah M. Kamel
- , Jeroen Bakkers
- , Maria S. Remedi
- , Marijke Van Ghelue
- , Colin G. Nichols
- & Gijs van Haaften
-
Research | | Open
Identification of human D lactate dehydrogenase deficiency
- Glen R. Monroe
- , Albertien M. van Eerde
- , Federico Tessadori
- , Karen J. Duran
- , Sanne M. C. Savelberg
- , Johanna C. van Alfen
- , Paulien A. Terhal
- , Saskia N. van der Crabben
- , Klaske D. Lichtenbelt
- , Sabine A. Fuchs
- , Johan Gerrits
- , Markus J. van Roosmalen
- , Koen L. van Gassen
- , Mirjam van Aalderen
- , Bart G. Koot
- , Marlies Oostendorp
- , Marinus Duran
- , Gepke Visser
- , Tom J. de Koning
- , Francesco Calì
- , Paolo Bosco
- , Karin Geleijns
- , Monique G. M. de Sain-van der Velden
- , Nine V. Knoers
- , Jeroen Bakkers
- , Nanda M. Verhoeven-Duif
- , Gijs van Haaften
- & Judith J. Jans
-
Research | | Open
-
Research |
Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
- Anneke Kievit
- , Federico Tessadori
- , Hannie Douben
- , Ingrid Jordens
- , Madelon Maurice
- , Jeannette Hoogeboom
- , Raoul Hennekam
- , Sheela Nampoothiri
- , Hülya Kayserili
- , Marco Castori
- , Margo Whiteford
- , Connie Motter
- , Catherine Melver
- , Michael Cunningham
- , Anne Hing
- , Nancy M. Kokitsu-Nakata
- , Siulan Vendramini-Pittoli
- , Antonio Richieri-Costa
- , Annette F. Baas
- , Corstiaan C. Breugem
- , Karen Duran
- , Maarten Massink
- , Patrick W. B. Derksen
- , Wilfred F. J. van IJcken
- , Leontine van Unen
- , Fernando Santos-Simarro
- , Pablo Lapunzina
- , Vera L. Gil-da Silva Lopes
- , Elaine Lustosa-Mendes
- , Max Krall
- , Anne Slavotinek
- , Victor Martinez-Glez
- , Jeroen Bakkers
- , Koen L. I. van Gassen
- , Annelies de Klein
- , Marie-José H. van den Boogaard
- & Gijs van Haaften
-
Research |
-
Research | | Open
-
Research |
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy
- Aimee D C Paulussen
- , Anja Steyls
- , Jo Vanoevelen
- , Florence HJ van Tienen
- , Ingrid P C Krapels
- , Godelieve RF Claes
- , Sonja Chocron
- , Crool Velter
- , Gita M Tan-Sindhunata
- , Catarina Lundin
- , Irene Valenzuela
- , Balint Nagy
- , Iben Bache
- , Lisa Leth Maroun
- , Kristiina Avela
- , Han G Brunner
- , Hubert J M Smeets
- , Jeroen Bakkers
- & Arthur van den Wijngaard
-
Research |
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm
- Philippe Chetaille
- , Christoph Preuss
- , Silja Burkhard
- , Jean-Marc Côté
- , Christine Houde
- , Julie Castilloux
- , Jessica Piché
- , Natacha Gosset
- , Séverine Leclerc
- , Florian Wünnemann
- , Maryse Thibeault
- , Carmen Gagnon
- , Antonella Galli
- , Elizabeth Tuck
- , Gilles R Hickson
- , Nour El Amine
- , Ines Boufaied
- , Emmanuelle Lemyre
- , Pascal de Santa Barbara
- , Sandrine Faure
- , Anders Jonzon
- , Michel Cameron
- , Harry C Dietz
- , Elena Gallo-McFarlane
- , D Woodrow Benson
- , Claudia Moreau
- , Damian Labuda
- , Shing H Zhan
- , Yaoqing Shen
- , Michèle Jomphe
- , Steven J M Jones
- , Jeroen Bakkers
- & Gregor Andelfinger
-
Research |
