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British journal of dermatology (1951), 2021-12, Vol.185 (6), p.1105-1111
2021
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British journal of dermatology (1951), 2021-05, Vol.184 (5), p.816-825
2021
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British journal of dermatology (1951), 2021-04, Vol.184 (4), p.606-616
2021
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British journal of dermatology (1951), 2020-03, Vol.182 (3), p.729-737
- Simpson, J.K.
- Martinez‐Queipo, M.
- Onoufriadis, A.
- Tso, S.
- Glass, E.
- Liu, L.
- Higashino, T.
- Scott, W.
- Tierney, C.
- Simpson, M.A.
- Desomchoke, R.
- Youssefian, L.
- SaeIdian, A.H
- Vahidnezhad, H.
- Bisquera, A.
- Ravenscroft, J.
- Moss, C.
- O'Toole, E.A.
- Burrows, N.
- Leech, S.
- Jones, E.A.
- Lim, D.
- Ilchyshyn, A.
- Goldstraw, N.
- Cork, M.J.
- Darne, S.
- Uitto, J.
- Martinez, A.E.
- Mellerio, J.E.
- McGrath, J.A.
2020
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British journal of dermatology (1951), 2020-03, Vol.182 (3), p.e114-e114
- Simpson, J.K.
- Martinez‐Queipo, M.
- Onoufriadis, A.
- Tso, S.
- Glass, E.
- Liu, L.
- Higashino, T.
- Scott, W.
- Tierney, C.
- Simpson, M.A.
- Desomchoke, R.
- Youssefian, L.
- SaeIdian, A.H.
- Vahidnezhad, H.
- Bisquera, A.
- Ravenscroft, J.
- Moss, C.
- O'Toole, E.A.
- Burrows, N.
- Leech, S.
- Jones, E.A.
- Lim, D.
- Ilchyshyn, A.
- Goldstraw, N.
- Cork, M.J.
- Darne, S.
- Uitto, J.
- Martinez, A.E.
- Mellerio, J.E.
- McGrath, J.A.
2020
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British journal of dermatology (1951), 2021-05, Vol.184 (5), p.967-970
2021
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British journal of dermatology (1951), 2021-05, Vol.184 (5), p.935-943
2021
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Clinical and experimental dermatology, 2020-08, Vol.45 (6), p.789-792
2020
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Clinical and experimental dermatology, 2020-07, Vol.45 (5), p.650-653
2020
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Clinical and experimental dermatology, 2020-07, Vol.45 (5), p.654-657
2020
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Clinical and experimental dermatology, 2019-10, Vol.44 (7), p.814-817
2019
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Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index
2018
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Clinical and experimental dermatology, 2020-04, Vol.45 (3), p.391-394
2020
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British journal of dermatology (1951), 2020-03, Vol.182 (3), p.e101-e101
- Simpson, J.K.
- Martinez‐Queipo, M.
- Onoufriadis, A.
- Tso, S.
- Glass, E.
- Liu, L.
- Higashino, T.
- Scott, W.
- Tierney, C.
- Simpson, M.A.
- Desomchoke, R.
- Youssefian, L.
- SaeIdian, A.H.
- Vahidnezhad, H.
- Bisquera, A.
- Ravenscroft, J.
- Moss, C.
- O'Toole, E.A.
- Burrows, N.
- Leech, S.
- Jones, E.A.
- Lim, D.
- Ilchyshyn, A.
- Goldstraw, N.
- Cork, M.J.
- Darne, S.
- Uitto, J.
- Martinez, A.E.
- Mellerio, J.E.
- McGrath, J.A.
2020
Link zum Volltext
Nature genetics, 2016-02, Vol.48 (2), p.126-133
2016
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American journal of human genetics, 2012-10, Vol.91 (4), p.672-684
- OLBRICH, Heike
- SCHMIDTS, Miriam
- HURLES, Matthew E
- CONSORTIUM, Ukk
- KÖHLER, Gabriele
- SCHROEDER, Josef
- NÜRNBERG, Gudrun
- NÜRNBERG, Peter
- CHUNG, Eddie M. K
- REINHARDT, Richard
- MARTHIN, June K
- NIELSEN, Kim G
- WERNER, Claudius
- MITCHISON, HannahM
- OMRAN, Heymut
- ONOUFRIADIS, Alexandros
- LOGES, Niki T
- RAIDT, Johanna
- FANNI BANKI, Nora
- SHOEMARK, Amelia
- BURGOYNE, Tom
- AL TURKI, Saeed
2012
Link zum Volltext
Nature genetics, 2012-12, Vol.44 (12), p.1341-1348
- TSOI, Lam C
- SPAIN, Sarah L
- KANG, Hyun M
- ALLEN, Michael H
- MCMANUS, Ross
- NOVELLI, Giuseppe
- SAMUELSSON, Lena
- SCHALKWIJK, Joost
- STAHLE, Mona
- BURDEN, A. David
- SMITH, Catherine H
- CORK, Michael J
- KNIGHT, Jo
- ESTIVILL, Xavier
- BOWCOCK, Anne M
- KRUEGER, Gerald G
- WEGER, Wolfgang
- WORTHINGTON, Jane
- TAZI-AHNINI, Rachid
- NESTLE, Frank O
- HAYDAY, Adrian
- HOFFMANN, Per
- WINKELMANN, Juliane
- ELLINGHAUS, Eva
- WIJMENGA, Cisca
- LANGFORD, Cordelia
- EDKINS, Sarah
- ANDREWS, Robert
- BLACKBURN, Hannah
- STRANGE, Amy
- BAND, Gavin
- PEARSON, Richard D
- VUKCEVIC, Damjan
- SPENCER, Chris C. A
- STUART, Philip E
- DELOUKAS, Panos
- MROWIETZ, Ulrich
- SCHREIBER, Stefan
- WEIDINGER, Stephan
- KOKS, Sulev
- KINGO, Külli
- ESKO, Tonu
- METSPALU, Andres
- LIM, Henry W
- VOORHEES, John J
- CAPON, Francesca
- WEICHENTHAL, Michael
- WICHMANN, H. Erich
- CHANDRAN, Vinod
- ROSEN, Cheryl F
- JUN DING
- YANMING LI
- TEJASVI, Trilokraj
- GUDJONSSON, Johann E
2012
Link zum Volltext
Nature communications, 2016-05, Vol.7 (1), p.11491-11491, Article 11491
- Boldt, Karsten
- van Reeuwijk, Jeroen
- Lu, Qianhao
- Koutroumpas, Konstantinos
- Nguyen, Thanh-Minh T
- Texier, Yves
- van Beersum, Sylvia E C
- Horn, Nicola
- Willer, Jason R
- Mans, Dorus A
- Dougherty, Gerard
- Lamers, Ideke J C
- Coene, Karlien L M
- Arts, Heleen H
- Betts, Matthew J
- Beyer, Tina
- Bolat, Emine
- Gloeckner, Christian Johannes
- Haidari, Khatera
- Hetterschijt, Lisette
- Iaconis, Daniela
- Jenkins, Dagan
- Klose, Franziska
- Knapp, Barbara
- Latour, Brooke
- Letteboer, Stef J F
- Marcelis, Carlo L
- Mitic, Dragana
- Morleo, Manuela
- Oud, Machteld M
- Riemersma, Moniek
- Rix, Susan
- Terhal, Paulien A
- Toedt, Grischa
- van Dam, Teunis J P
- de Vrieze, Erik
- Wissinger, Yasmin
- Wu, Ka Man
- Apic, Gordana
- Beales, Philip L
- Blacque, Oliver E
- Gibson, Toby J
- Huynen, Martijn A
- Katsanis, Nicholas
- Kremer, Hannie
- Omran, Heymut
- van Wijk, Erwin
- Wolfrum, Uwe
- Kepes, François
- Davis, Erica E
- Franco, Brunella
- Giles, Rachel H
- Ueffing, Marius
- Russell, Robert B
- Roepman, Ronald
2016
Link zum Volltext
Journal of investigative dermatology, 2023-05, Vol.143 (5), p.S141-S141
2023
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American journal of human genetics, 2013-07, Vol.93 (1), p.29-41
- Carss, Keren J.
- Stevens, Elizabeth
- Foley, A. Reghan
- Cirak, Sebahattin
- Riemersma, Moniek
- Torelli, Silvia
- Hoischen, Alexander
- Willer, Tobias
- van Scherpenzeel, Monique
- Moore, Steven A.
- Messina, Sonia
- Bertini, Enrico
- Bönnemann, Carsten G.
- Abdenur, Jose E.
- Grosmann, Carla M.
- Kesari, Akanchha
- Punetha, Jaya
- Quinlivan, Ros
- Waddell, Leigh B.
- Young, Helen K.
- Wraige, Elizabeth
- Yau, Shu
- Brodd, Lina
- Feng, Lucy
- Sewry, Caroline
- MacArthur, Daniel G.
- North, Kathryn N.
- Hoffman, Eric
- Stemple, Derek L.
- Hurles, Matthew E.
- van Bokhoven, Hans
- Campbell, Kevin P.
- Lefeber, Dirk J.
- Lin, Yung-Yao
- Muntoni, Francesco
2013
Link zum Volltext
Human mutation, 2013-03, Vol.34 (3), p.462-472
- Antony, Dinu
- Becker-Heck, Anita
- Zariwala, Maimoona A.
- Schmidts, Miriam
- Onoufriadis, Alexandros
- Forouhan, Mitra
- Wilson, Robert
- Taylor-Cox, Theresa
- Dewar, Ann
- Jackson, Claire
- Goggin, Patricia
- Loges, Niki T.
- Olbrich, Heike
- Jaspers, Martine
- Jorissen, Mark
- Leigh, Margaret W.
- Wolf, Whitney E.
- Daniels, M. Leigh Anne
- Noone, Peadar G.
- Ferkol, Thomas W.
- Sagel, Scott D.
- Rosenfeld, Margaret
- Rutman, Andrew
- Dixit, Abhijit
- O'Callaghan, Christopher
- Lucas, Jane S.
- Hogg, Claire
- Scambler, Peter J.
- Emes, Richard D.
- UK10K
- Chung, Eddie M.K.
- Shoemark, Amelia
- Knowles, Michael R.
- Omran, Heymut
- Mitchison, Hannah M.
2013
Link zum Volltext
American journal of human genetics, 2014-02, Vol.94 (2), p.295-302
2014
Link zum Volltext
Journal of medical genetics, 2013-05, Vol.50 (5), p.309-323
- Schmidts, Miriam
- Arts, Heleen H
- Bongers, Ernie M H F
- Yap, Zhimin
- Oud, Machteld M
- Antony, Dinu
- Duijkers, Lonneke
- Emes, Richard D
- Stalker, Jim
- Yntema, Jan-Bart L
- Plagnol, Vincent
- Hoischen, Alexander
- Gilissen, Christian
- Forsythe, Elisabeth
- Lausch, Ekkehart
- Veltman, Joris A
- Roeleveld, Nel
- Superti-Furga, Andrea
- Kutkowska-Kazmierczak, Anna
- Kamsteeg, Erik-Jan
- Elçioğlu, Nursel
- van Maarle, Merel C
- Graul-Neumann, Luitgard M
- Devriendt, Koenraad
- Smithson, Sarah F
- Wellesley, Diana
- Verbeek, Nienke E
- Hennekam, Raoul C M
- Kayserili, Hulya
- Scambler, Peter J
- Beales, Philip L
- Knoers, Nine VAM
- Roepman, Ronald
- Mitchison, Hannah M
2013
Link zum Volltext
American journal of human genetics, 2014-06, Vol.94 (6), p.915-923
- Rainger, Joe
- Pehlivan, Davut
- Johansson, Stefan
- Bengani, Hemant
- Sanchez-Pulido, Luis
- Williamson, Kathleen A.
- Ture, Mehmet
- Barker, Heather
- Rosendahl, Karen
- Spranger, Jürgen
- Horn, Denise
- Meynert, Alison
- Floyd, James A.B.
- Prescott, Trine
- Anderson, Carl A.
- Rainger, Jacqueline K.
- Karaca, Ender
- Gonzaga-Jauregui, Claudia
- Jhangiani, Shalini
- Muzny, Donna M.
- Seawright, Anne
- Soares, Dinesh C.
- Kharbanda, Mira
- Murday, Victoria
- Finch, Andrew
- Hurles, Matthew
- FitzPatrick, David R.
- Al-Turki, Saeed
- Anderson, Carl
- Barroso, Inês
- Beales, Philip
- Bentham, Jamie
- Bhattacharya, Shoumo
- Carss, Keren
- Chatterjee, Krishna
- Cirak, Sebhattin
- Cosgrove, Catherine
- Daly, Allan
- Floyd, Jamie
- Franklin, Chris
- Futema, Marta
- Humphries, Steve
- McCarthy, Shane
- Mitchison, Hannah
- Muntoni, Francesco
- Onoufriadis, Alexandros
- Parker, Victoria
- Payne, Felicity
- Plagnol, Vincent
- Raymond, Lucy
- Savage, David
- Scambler, Peter
- Schmidts, Miriam
- Semple, Robert
- Serra, Eva
- Stalker, Jim
- van Kogelenberg, Margriet
- Vijayarangakannan, Parthiban
- Walter, Klaudia
- Wood, Gretta
- Gibbs, Richard A.
- van Heyningen, Veronica
- Taylor, Martin S.
- Yakut, Tahsin
- Knappskog, Per M.
- Hurles, Matthew E.
- Ponting, Chris P.
- Lupski, James R.
- Houge, Gunnar
- FitzPatrick, David R.
2014
Link zum Volltext
Nature communications, 2015-03, Vol.6 (1), p.5681-5681, Article 5681
- Taylor, Peter N
- Porcu, Eleonora
- Chew, Shelby
- Campbell, Purdey J
- Traglia, Michela
- Brown, Suzanne J
- Mullin, Benjamin H
- Shihab, Hashem A
- Min, Josine
- Walter, Klaudia
- Memari, Yasin
- Huang, Jie
- Barnes, Michael R
- Beilby, John P
- Charoen, Pimphen
- Danecek, Petr
- Dudbridge, Frank
- Forgetta, Vincenzo
- Greenwood, Celia
- Grundberg, Elin
- Johnson, Andrew D
- Hui, Jennie
- Lim, Ee M
- McCarthy, Shane
- Muddyman, Dawn
- Panicker, Vijay
- Perry, John R B
- Bell, Jordana T
- Yuan, Wei
- Relton, Caroline
- Gaunt, Tom
- Schlessinger, David
- Abecasis, Goncalo
- Cucca, Francesco
- Surdulescu, Gabriela L
- Woltersdorf, Wolfram
- Zeggini, Eleftheria
- Zheng, Hou-Feng
- Toniolo, Daniela
- Dayan, Colin M
- Naitza, Silvia
- Walsh, John P
- Spector, Tim
- Davey Smith, George
- Durbin, Richard
- Richards, J Brent
- Sanna, Serena
- Soranzo, Nicole
- Timpson, Nicholas J
- Wilson, Scott G
2015
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