Showing 1–10 of 10 results
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Research | | Open
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Research |
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Amendments and Corrections |
Correction: Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
- Yaran Wen
- , Yang Liu
- , Yiming Xu
- , Yiwei Zhao
- , Rui Hua
- , Kaibo Wang
- , Miao Sun
- , Yuanhong Li
- , Sen Yang
- , Xue-Jun Zhang
- , Roland Kruse
- , Sven Cichon
- , Regina C Betz
- , Markus M Nöthen
- , Maurice A M van Steensel
- , Michel van Geel
- , Peter M Steijlen
- , Daniel Hohl
- , Marcel Huber
- , Giles S Dunnill
- , Cameron Kennedy
- , Andrew Messenger
- , Colin S Munro
- , Alessandro Terrinoni
- , Alain Hovnanian
- , Christine Bodemer
- , Yves de Prost
- , Amy S Paller
- , Alan D Irvine
- , Rod Sinclair
- , Jack Green
- , Dandan Shang
- , Qing Liu
- , Yang Luo
- , Li Jiang
- , Hong-Duo Chen
- , Wilson H-Y Lo
- , W H Irwin McLean
- , Chun-Di He
- & Xue Zhang
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Research |
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
- Gillian I Rice
- , Jacquelyn Bond
- , Aruna Asipu
- , Rebecca L Brunette
- , Iain W Manfield
- , Ian M Carr
- , Jonathan C Fuller
- , Richard M Jackson
- , Teresa Lamb
- , Tracy A Briggs
- , Manir Ali
- , Hannah Gornall
- , Lydia R Couthard
- , Alec Aeby
- , Simon P Attard-Montalto
- , Enrico Bertini
- , Christine Bodemer
- , Knut Brockmann
- , Louise A Brueton
- , Peter C Corry
- , Isabelle Desguerre
- , Elisa Fazzi
- , Angels Garcia Cazorla
- , Blanca Gener
- , Ben C J Hamel
- , Arvid Heiberg
- , Matthew Hunter
- , Marjo S van der Knaap
- , Ram Kumar
- , Lieven Lagae
- , Pierre G Landrieu
- , Charles M Lourenco
- , Daphna Marom
- , Michael F McDermott
- , William van der Merwe
- , Simona Orcesi
- , Julie S Prendiville
- , Magnhild Rasmussen
- , Stavit A Shalev
- , Doriette M Soler
- , Marwan Shinawi
- , Ronen Spiegel
- , Tiong Y Tan
- , Adeline Vanderver
- , Emma L Wakeling
- , Evangeline Wassmer
- , Elizabeth Whittaker
- , Pierre Lebon
- , Daniel B Stetson
- , David T Bonthron
- & Yanick J Crow
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Research |
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Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome
- Smail Hadj-Rabia
- , Gaelle Brideau
- , Yasser Al-Sarraj
- , Rachid C Maroun
- , Marie-Lucile Figueres
- , Stéphanie Leclerc-Mercier
- , Eric Olinger
- , Stéphanie Baron
- , Catherine Chaussain
- , Dominique Nochy
- , Rowaida Z Taha
- , Bertrand Knebelmann
- , Vandana Joshi
- , Patrick A Curmi
- , Marios Kambouris
- , Rosa Vargas-Poussou
- , Christine Bodemer
- , Olivier Devuyst
- , Pascal Houillier
- & Hatem El-Shanti
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Research |
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
- Elodie Bal
- , Hyun-Sook Park
- , Zakia Belaid-Choucair
- , Hülya Kayserili
- , Magali Naville
- , Marine Madrange
- , Elena Chiticariu
- , Smail Hadj-Rabia
- , Nicolas Cagnard
- , Francois Kuonen
- , Daniel Bachmann
- , Marcel Huber
- , Cindy Le Gall
- , Francine Côté
- , Sylvain Hanein
- , Rasim Özgür Rosti
- , Ayca Dilruba Aslanger
- , Quinten Waisfisz
- , Christine Bodemer
- , Olivier Hermine
- , Fanny Morice-Picard
- , Bruno Labeille
- , Frédéric Caux
- , Juliette Mazereeuw-Hautier
- , Nicole Philip
- , Nicolas Levy
- , Alain Taieb
- , Marie-Françoise Avril
- , Denis J Headon
- , Gabor Gyapay
- , Thierry Magnaldo
- , Sylvie Fraitag
- , Hugues Roest Crollius
- , Pierre Vabres
- , Daniel Hohl
- , Arnold Munnich
- & Asma Smahi
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Research |
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
- Yaran Wen
- , Yang Liu
- , Yiming Xu
- , Yiwei Zhao
- , Rui Hua
- , Kaibo Wang
- , Miao Sun
- , Yuanhong Li
- , Sen Yang
- , Xue-Jun Zhang
- , Roland Kruse
- , Sven Cichon
- , Regina C Betz
- , Markus M Nöthen
- , Maurice A M van Steensel
- , Michel van Geel
- , Peter M Steijlen
- , Daniel Hohl
- , Marcel Huber
- , Giles S Dunnill
- , Cameron Kennedy
- , Andrew Messenger
- , Colin S Munro
- , Alessandro Terrinoni
- , Alain Hovnanian
- , Christine Bodemer
- , Yves de Prost
- , Amy S Paller
- , Alan D Irvine
- , Rod Sinclair
- , Jack Green
- , Dandan Shang
- , Qing Liu
- , Yang Luo
- , Li Jiang
- , Hong-Duo Chen
- , Wilson H-Y Lo
- , W H Irwin McLean
- , Chun-Di He
- & Xue Zhang
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Research |
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
- Rainer Döffinger
- , Asma Smahi
- , Christine Bessia
- , Frédéric Geissmann
- , Jacqueline Feinberg
- , Anne Durandy
- , Christine Bodemer
- , Sue Kenwrick
- , Sophie Dupuis-Girod
- , Stéphane Blanche
- , Philip Wood
- , Smail Hadj Rabia
- , Denis J. Headon
- , Paul A. Overbeek
- , Françoise Le Deist
- , Steven M. Holland
- , Kiran Belani
- , Dinakantha S. Kumararatne
- , Alain Fischer
- , Ralph Shapiro
- , Mary Ellen Conley
- , Eric Reimund
- , Hermann Kalhoff
- , Mario Abinun
- , Arnold Munnich
- , Alain Israël
- , Gilles Courtois
- & Jean-Laurent Casanova
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