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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...The Journal of pathology, 2017-01, Vol.241 (2), p.294-309
2017
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Cellular and molecular life sciences : CMLS, 2020-06, Vol.77 (11), p.2029-2048
2020
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Nature (London), 2023-06, Vol.618 (7965), p.625-633
2023
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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
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American journal of human genetics, 2013-01, Vol.92 (1), p.88-98
2013
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American journal of human genetics, 2018-12, Vol.103 (6), p.984-994
- Fassad, Mahmoud R.
- Shoemark, Amelia
- Legendre, Marie
- Hirst, Robert A.
- Koll, France
- le Borgne, Pierrick
- Louis, Bruno
- Daudvohra, Farheen
- Patel, Mitali P.
- Thomas, Lucie
- Dixon, Mellisa
- Burgoyne, Thomas
- Hayes, Joseph
- Nicholson, Andrew G.
- Cullup, Thomas
- Jenkins, Lucy
- Carr, Siobhán B.
- Aurora, Paul
- Lemullois, Michel
- Aubusson-Fleury, Anne
- Papon, Jean-François
- O’Callaghan, Christopher
- Amselem, Serge
- Hogg, Claire
- Escudier, Estelle
- Tassin, Anne-Marie
- Mitchison, Hannah M.
2018
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Journal of medical genetics, 2020-05, Vol.57 (5), p.322-330
- Fassad, Mahmoud R.
- Patel, Mitali P.
- Shoemark, Amelia
- Cullup, Thomas
- Hayward, Jane
- Dixon, Mellisa
- Rogers, Andrew V.
- Ollosson, Sarah
- Jackson, Claire
- Goggin, Patricia
- Hirst, Robert A.
- Rutman, Andrew
- Thompson, James
- Jenkins, Lucy
- Aurora, Paul
- Moya, Eduardo
- Chetcuti, Philip
- O'Callaghan, Chris
- Morris-Rosendahl, Deborah J
- Watson, Christopher M.
- Wilson, Robert
- Carr, Siobhan
- Walker, Woolf
- Pitno, Andreia
- Lopes, Susana
- Morsy, Heba
- Shoman, Walaa
- Pereira, Luisa
- Constant, Carolina
- Loebinger, Michael R.
- Chung, Eddie M.K.
- Kenia, Priti
- Rumman, Nisreen
- Fasseeh, Nader
- Lucas, Jane S.
- Hogg, Claire
- Mitchison, Hannah M.
2020
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Nature genetics, 2013-09, Vol.45 (9), p.995-1003
- Tarkar, Aarti
- Loges, Niki T
- Slagle, Christopher E
- Francis, Richard
- Dougherty, Gerard W
- Tamayo, Joel V
- Shook, Brett
- Cantino, Marie
- Schwartz, Daniel
- Jahnke, Charlotte
- Olbrich, Heike
- Werner, Claudius
- Raidt, Johanna
- Pennekamp, Petra
- Abouhamed, Marouan
- Hjeij, Rim
- Köhler, Gabriele
- Griese, Matthias
- Li, You
- Lemke, Kristi
- Klena, Nikolas
- Liu, Xiaoqin
- Gabriel, George
- Tobita, Kimimasa
- Jaspers, Martine
- Morgan, Lucy C
- Shapiro, Adam J
- Letteboer, Stef J F
- Mans, Dorus A
- Carson, Johnny L
- Leigh, Margaret W
- Wolf, Whitney E
- Chen, Serafine
- Lucas, Jane S
- Onoufriadis, Alexandros
- Plagnol, Vincent
- Schmidts, Miriam
- Boldt, Karsten
- Roepman, Ronald
- Zariwala, Maimoona A
- Lo, Cecilia W
- Mitchison, Hannah M
- Knowles, Michael R
- Burdine, Rebecca D
- LoTurco, Joseph J
- Omran, Heymut
2013
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Seminars in cell & developmental biology, 2021-02, Vol.110, p.19-33
2021
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American journal of human genetics, 2014-09, Vol.95 (3), p.257-274
- Hjeij, Rim
- Onoufriadis, Alexandros
- Watson, Christopher M.
- Slagle, Christopher E.
- Klena, Nikolai T.
- Dougherty, Gerard W.
- Kurkowiak, Małgorzata
- Loges, Niki T.
- Diggle, Christine P.
- Morante, Nicholas F.C.
- Gabriel, George C.
- Lemke, Kristi L.
- Li, You
- Pennekamp, Petra
- Menchen, Tabea
- Konert, Franziska
- Marthin, June Kehlet
- Mans, Dorus A.
- Letteboer, Stef J.F.
- Werner, Claudius
- Burgoyne, Thomas
- Westermann, Cordula
- Rutman, Andrew
- Carr, Ian M.
- O’Callaghan, Christopher
- Moya, Eduardo
- Chung, Eddie M.K.
- Sheridan, Eamonn
- Nielsen, Kim G.
- Roepman, Ronald
- Bartscherer, Kerstin
- Burdine, Rebecca D.
- Lo, Cecilia W.
- Omran, Heymut
- Mitchison, Hannah M.
2014
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Nature genetics, 2012-06, Vol.44 (6), p.714-719
- Panizzi, Jennifer R
- Becker-Heck, Anita
- Castleman, Victoria H
- Al-Mutairi, Dalal A
- Liu, Yan
- Loges, Niki T
- Pathak, Narendra
- Austin-Tse, Christina
- Sheridan, Eamonn
- Schmidts, Miriam
- Olbrich, Heike
- Werner, Claudius
- Häffner, Karsten
- Hellman, Nathan
- Chodhari, Rahul
- Gupta, Amar
- Kramer-Zucker, Albrecht
- Olale, Felix
- Burdine, Rebecca D
- Schier, Alexander F
- O'Callaghan, Christopher
- Chung, Eddie M K
- Reinhardt, Richard
- Mitchison, Hannah M
- King, Stephen M
- Omran, Heymut
- Drummond, Iain A
2012
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American journal of human genetics, 2013-11, Vol.93 (5), p.915-925
- Halbritter, Jan
- Bizet, Albane A.
- Schmidts, Miriam
- Porath, Jonathan D.
- Braun, Daniela A.
- Gee, Heon Yung
- McInerney-Leo, Aideen M.
- Krug, Pauline
- Filhol, Emilie
- Davis, Erica E.
- Airik, Rannar
- Czarnecki, Peter G.
- Lehman, Anna M.
- Trnka, Peter
- Nitschké, Patrick
- Bole-Feysot, Christine
- Schueler, Markus
- Knebelmann, Bertrand
- Burtey, Stéphane
- Szabó, Attila J.
- Tory, Kálmán
- Leo, Paul J.
- Gardiner, Brooke
- McKenzie, Fiona A.
- Zankl, Andreas
- Brown, Matthew A.
- Hartley, Jane L.
- Maher, Eamonn R.
- Li, Chunmei
- Leroux, Michel R.
- Scambler, Peter J.
- Zhan, Shing H.
- Jones, Steven J.
- Kayserili, Hülya
- Tuysuz, Beyhan
- Moorani, Khemchand N.
- Constantinescu, Alexandru
- Krantz, Ian D.
- Kaplan, Bernard S.
- Shah, Jagesh V.
- Hurd, Toby W.
- Doherty, Dan
- Katsanis, Nicholas
- Duncan, Emma L.
- Otto, Edgar A.
- Beales, Philip L.
- Mitchison, Hannah M.
- Saunier, Sophie
- Hildebrandt, Friedhelm
2013
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American journal of human genetics, 2013-09, Vol.93 (3), p.515-523
2013
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Human molecular genetics, 2015-03, Vol.24 (5), p.1410-1419
2015
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American journal of human genetics, 2013-08, Vol.93 (2), p.346-356
- Moore, Daniel J.
- Onoufriadis, Alexandros
- Shoemark, Amelia
- Simpson, Michael A.
- zur Lage, Petra I.
- de Castro, Sandra C.
- Bartoloni, Lucia
- Gallone, Giuseppe
- Petridi, Stavroula
- Woollard, Wesley J.
- Antony, Dinu
- Schmidts, Miriam
- Didonna, Teresa
- Makrythanasis, Periklis
- Bevillard, Jeremy
- Mongan, Nigel P.
- Djakow, Jana
- Pals, Gerard
- Lucas, Jane S.
- Marthin, June K.
- Nielsen, Kim G.
- Santoni, Federico
- Guipponi, Michel
- Hogg, Claire
- Antonarakis, Stylianos E.
- Emes, Richard D.
- Chung, Eddie M.K.
- Greene, Nicholas D.E.
- Blouin, Jean-Louis
- Jarman, Andrew P.
- Mitchison, Hannah M.
2013
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The European respiratory journal, 2021-10, Vol.58 (4), p.2000455
- Lee, Dani Do Hyang
- Cardinale, Daniela
- Nigro, Ersilia
- Butler, Colin R
- Rutman, Andrew
- Fassad, Mahmoud R
- Hirst, Robert A
- Moulding, Dale
- Agrotis, Alexander
- Forsythe, Elisabeth
- Peckham, Daniel
- Robson, Evie
- Smith, Claire M
- Somavarapu, Satyanarayana
- Beales, Philip L
- Hart, Stephen L
- Janes, Sam M
- Mitchison, Hannah M
- Ketteler, Robin
- Hynds, Robert E
- O'Callaghan, Christopher
2021
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American journal of human genetics, 2013-11, Vol.93 (5), p.932-944
- Schmidts, Miriam
- Vodopiutz, Julia
- Christou-Savina, Sonia
- Cortés, Claudio R.
- McInerney-Leo, Aideen M.
- Emes, Richard D.
- Arts, Heleen H.
- Tüysüz, Beyhan
- D’Silva, Jason
- Leo, Paul J.
- Giles, Tom C.
- Oud, Machteld M.
- Harris, Jessica A.
- Koopmans, Marije
- Marshall, Mhairi
- Elçioglu, Nursel
- Kuechler, Alma
- Bockenhauer, Detlef
- Moore, Anthony T.
- Wilson, Louise C.
- Janecke, Andreas R.
- Hurles, Matthew E.
- Emmet, Warren
- Gardiner, Brooke
- Streubel, Berthold
- Dopita, Belinda
- Zankl, Andreas
- Kayserili, Hülya
- Scambler, Peter J.
- Brown, Matthew A.
- Beales, Philip L.
- Wicking, Carol
- Duncan, Emma L.
- Mitchison, Hannah M.
2013
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PLoS genetics, 2023-06, Vol.19 (6), p.e1010796-e1010796
- Bakey, Zeineb
- Cabrera, Oscar A
- Hoefele, Julia
- Antony, Dinu
- Wu, Kaman
- Stuck, Michael W
- Micha, Dimitra
- Eguether, Thibaut
- Smith, Abigail O
- van der Wel, Nicole N
- Wagner, Matias
- Strittmatter, Lara
- Beales, Philip L
- Jonassen, Julie A
- Thiffault, Isabelle
- Cadieux-Dion, Maxime
- Boyes, Laura
- Sharif, Saba
- Tüysüz, Beyhan
- Dunstheimer, Desiree
- Niessen, Hans W M
- Devine, William
- Lo, Cecilia W
- Mitchison, Hannah M
- Schmidts, Miriam
- Pazour, Gregory J
- Dutcher, Susan K.
2023
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Ultrastructural pathology, 2017-11, Vol.41 (6), p.415-427
2017
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Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project
2019
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Human molecular genetics, 2014-07, Vol.23 (13), p.3362-3374
- Onoufriadis, Alexandros
- Shoemark, Amelia
- Schmidts, Miriam
- Patel, Mitali
- Jimenez, Gina
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- Thomas, Biju
- Dixon, Mellisa
- Hirst, Robert A
- Rutman, Andrew
- Burgoyne, Thomas
- Williams, Christopher
- Scully, Juliet
- Bolard, Florence
- Lafitte, Jean-Jacques
- Beales, Philip L
- Hogg, Claire
- Yang, Pinfen
- Chung, Eddie M K
- Emes, Richard D
- O'Callaghan, Christopher
- Bouvagnet, Patrice
- Mitchison, Hannah M
2014
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PLoS genetics, 2014-09, Vol.10 (9), p.e1004577-e1004577
- Diggle, Christine P
- Moore, Daniel J
- Mali, Girish
- zur Lage, Petra
- Ait-Lounis, Aouatef
- Schmidts, Miriam
- Shoemark, Amelia
- Garcia Munoz, Amaya
- Halachev, Mihail R
- Gautier, Philippe
- Yeyati, Patricia L
- Bonthron, David T
- Carr, Ian M
- Hayward, Bruce
- Markham, Alexander F
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- von Kriegsheim, Alex
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- Reith, Walter
- Sheridan, Eamonn
- Jarman, Andrew P
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- Dutcher, Susan K.
2014
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EBioMedicine, 2021-09, Vol.71, p.103530-103530, Article 103530
- Lam, Wai-Yee
- Tang, Clara Sze-Man
- So, Man-Ting
- Yue, Haibing
- Hsu, Jacob Shujui
- Chung, Patrick Ho-Yu
- Nicholls, John M.
- Yeung, Fanny
- Lee, Chun-Wai Davy
- Ngo, Diem Ngoc
- Nguyen, Pham Anh Hoa
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- Jenkins, Dagan
- O'Callaghan, Christopher
- Garcia-Barceló, Maria-Mercè
- Lee, So-Lun
- Sham, Pak-Chung
- Lui, Vincent Chi-Hang
- Tam, Paul Kwong-Hang
2021
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Frontiers in genetics, 2022-09, Vol.13, p.985227
2022
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Acta neuropathologica communications, 2017-10, Vol.5 (1), p.74-74, Article 74
2017
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