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Amendments and Corrections | | Open
Erratum: Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
- Peter E. Thijssen
- , Yuya Ito
- , Giacomo Grillo
- , Jun Wang
- , Guillaume Velasco
- , Hirohisa Nitta
- , Motoko Unoki
- , Minako Yoshihara
- , Mikita Suyama
- , Yu Sun
- , Richard J. L. F. Lemmers
- , Jessica C. de Greef
- , Andrew Gennery
- , Paolo Picco
- , Barbara Kloeckener-Gruissem
- , Tayfun Güngör
- , Ismail Reisli
- , Capucine Picard
- , Kamila Kebaili
- , Bertrand Roquelaure
- , Tsuyako Iwai
- , Ikuko Kondo
- , Takeo Kubota
- , Monique M. van Ostaijen-Ten Dam
- , Maarten J. D. van Tol
- , Corry Weemaes
- , Claire Francastel
- , Silvère M. van der Maarel
- & Hiroyuki Sasaki
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Research | | Open
Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
- Peter E. Thijssen
- , Yuya Ito
- , Giacomo Grillo
- , Jun Wang
- , Guillaume Velasco
- , Hirohisa Nitta
- , Motoko Unoki
- , Minako Yoshihara
- , Mikita Suyama
- , Yu Sun
- , Richard J. L. F. Lemmers
- , Jessica C. de Greef
- , Andrew Gennery
- , Paolo Picco
- , Barbara Kloeckener-Gruissem
- , Tayfun Güngör
- , Ismail Reisli
- , Capucine Picard
- , Kamila Kebaili
- , Bertrand Roquelaure
- , Tsuyako Iwai
- , Ikuko Kondo
- , Takeo Kubota
- , Monique M. van Ostaijen-Ten Dam
- , Maarten J. D. van Tol
- , Corry Weemaes
- , Claire Francastel
- , Silvère M. van der Maarel
- & Hiroyuki Sasaki
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Research |
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
- Richard J L F Lemmers
- , Rabi Tawil
- , Lisa M Petek
- , Judit Balog
- , Gregory J Block
- , Gijs W E Santen
- , Amanda M Amell
- , Patrick J van der Vliet
- , Rowida Almomani
- , Kirsten R Straasheijm
- , Yvonne D Krom
- , Rinse Klooster
- , Yu Sun
- , Johan T den Dunnen
- , Quinta Helmer
- , Colleen M Donlin-Smith
- , George W Padberg
- , Baziel G M van Engelen
- , Jessica C de Greef
- , Annemieke M Aartsma-Rus
- , Rune R Frants
- , Marianne de Visser
- , Claude Desnuelle
- , Sabrina Sacconi
- , Galina N Filippova
- , Bert Bakker
- , Michael J Bamshad
- , Stephen J Tapscott
- , Daniel G Miller
- & Silvère M van der Maarel
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Research |
