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Nature Genetics, ISSN 1061-4036, 2013, Volume 45, Issue 9, pp. 995 - 1003
Journal Article
Nature Communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, p. 14279
Journal Article
Human Mutation, ISSN 1059-7794, 03/2013, Volume 34, Issue 3, pp. 462 - 472
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The Journal of Dermatology, ISSN 0385-2407, 09/2019, Volume 46, Issue 9, pp. e329 - e330
Journal Article
by Walter, Klaudia and Min, Josine L and Huang, Jie and Crooks, Lucy and Memari, Yasin and McCarthy, Shane and Perry, John and Xu, Changjiang and Futema, Marta and Lawson, Daniel and Iotchkova, Valentina and Schiffels, Stephan and Henicks, Auey E and Danecek, Petr and Li, Rui and Floyd, James and Wain, Louise and Barroso, Inês and Humphries, Steve and Hurles, Matthew and Zeggini, Eleftheria and Barrett, Jeffrey C and Plagnol, Vincent and Richards, Brent and Greenwood, Celia and Timpson, Nicholas and Durbin, Richard and Bala, Senduran and Clapham, Peter and Coates, Guy and Cox, Tony and Daly, Allan and Du, Yuanping and Edkins, Ted and Ellis, Peter and Flicek, Paul and Guo, Xiaosen and Guo, Xueqin and Huang, Liren and Jackson, David K and Joyce, Chris and Keane, Thomas and Kolb-Kokocinski, Anja and Langford, Cordelia and Li, Yingrui and Liang, Jieqin and Lin, Hong and Liu, Ryan and Maslen, John and Muddyman, Dawn and Quail, Michael A and Stalker, Jim and Sun, Jianping and Tian, Jing and Wang, Guangbiao and Wang, Jun and Wang, Yu and Wong, Kim and Zhang, Pingbo and Birney, Ewan and Boustred, Chris and Chen, Lu and Clement, Gail and Cocca, Massimiliano and Smith, G.D and Day, Ian N.M and Day-Williams, Aaron and Down, Thomas and Dunham, David and Evans, David M and Gaunt, Tom and Geihs, Matthias and Hart, Deborah and Howie, Bryan and Hubbard, Tim and Hysi, Pirro and Jamshidi, Yalda and Karczewski, Konrad and Kemp, John and Lachance, Genevieve and Lek, Monkol and Lopes, Margarida and MacArthur, Daniel G and Marchini, Jonathan and Mangino, Massimo and Mathieson, Iain and Metrustry, Sarah and Moayyeri, Alireza and Northstone, Kate and Panoutsopoulou, Kalliope and Paternoster, Lavinia and Quaye, Lydia and Ring, Susan and Ritchie, Graham R.S and Shihab, Hashem A and Shin, So-Youn and Small, Kerrin and Artigas, M.S and Soranzo, Nicole and Southam, Lorraine and ... and UCLEB Consortium and UK10K Consortium and The UK10K Consortium
Nature: international weekly journal of science, ISSN 0028-0836, 10/2015, Volume 526, Issue 7571, pp. 82 - 89
Journal Article
by Tziotzios, Christos and Petridis, Christos and Dand, Nick and Ainali, Chrysanthi and Saklatvala, Jake R and Pullabhatla, Venu and Onoufriadis, Alexandros and Pramanik, Rashida and Baudry, David and Lee, Sang Hyuck and Wood, Kristie and Liu, Lu and Seegobin, Seth and Michelotti, Gregory A and Lwin, Su M and Christou, Evangelos A. A and Curtis, Charles J and de Rinaldis, Emanuele and Saxena, Alka and Holmes, Susan and Harries, Matthew and Palamaras, Ioulios and Cunningham, Fiona and Parkins, Gregory and Kaur, Manjit and Farrant, Paul and McDonagh, Andrew and Messenger, Andrew and Jones, Jennifer and Jolliffe, Victoria and Ali, Iaisha and Ardern-Jones, Michael and Mitchell, Charles and Burrows, Nigel and Atkar, Ravinder and Banfield, Cedric and Alexandroff, Anton and Champagne, Caroline and Cooper, Hywel L and Vañó-Galván, Sergio and Molina-Ruiz, Ana Maria and Perez, Nerea Ormaechea and Patel, Girish K and Macbeth, Abby and Page, Melanie and Bryden, Alyson and Mowbray, Megan and Wahie, Shyamal and Armstrong, Keith and Cooke, Nicola and Goodfield, Mark and Man, Irene and de Berker, David and Dunnill, Giles and Takwale, Anita and Rao, Archana and Siah, Tee-Wei and Sinclair, Rodney and Wade, Martin S and Dlova, Ncoza C and Setterfield, Jane and Lewis, Fiona and Bhargava, Kapil and Kirkpatrick, Niall and Estivill, Xavier and Stefanato, Catherine M and Flohr, Carsten and Spector, Timothy and Watt, Fiona M and Smith, Catherine H and Barker, Jonathan N and Fenton, David A and Simpson, Michael A and McGrath, John A
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 1150 - 9
Frontal fibrosing alopecia (FFA) is a recently described inflammatory and scarring type of hair loss affecting almost exclusively women. Despite a dramatic... 
LICHEN-PLANOPILARIS | SET | GENE | MULTIDISCIPLINARY SCIENCES | IMMUNE PRIVILEGE | Immune response | Baldness | Pathogenesis | Chromosome 6 | Genomes | Mapping | Loci | Chromosome 2 | Scars | Alopecia | Scalp | Histocompatibility antigen HLA | Gene mapping | Females | Immune system
Journal Article
The European respiratory journal, ISSN 0903-1936, 2018, Volume 51, Issue 2, pp. 1701809 - 1701809
In primary ciliary dyskinesia (PCD), motile ciliary dysfunction arises from ciliary defects usually confirmed by transmission electron microscopy (TEM). In 30%... 
DIAGNOSIS | DEFECTS | IMMUNOFLUORESCENCE | GENETICS | RESPIRATORY SYSTEM | CRYOELECTRON TOMOGRAPHY | RESPIRATORY CILIA | MUTATIONS | Transmission electron microscopy | Primary ciliary dyskinesia | Ultrastructure | Dynein | Genetic analysis | Tomography | Diagnosis | Mutation | Cilia | Dyskinesia
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2014, Volume 51, Issue 1, pp. 61 - 67
Journal Article