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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...Nature (London), 2020-04, Vol.580 (7802), p.269-273
- Pleguezuelos-Manzano, Cayetano
- Puschhof, Jens
- Rosendahl Huber, Axel
- van Hoeck, Arne
- Wood, Henry M.
- Nomburg, Jason
- Gurjao, Carino
- Manders, Freek
- Dalmasso, Guillaume
- Stege, Paul B.
- Paganelli, Fernanda L.
- Geurts, Maarten H.
- Beumer, Joep
- Mizutani, Tomohiro
- Miao, Yi
- van der Linden, Reinier
- van der Elst, Stefan
- Garcia, K. Christopher
- Top, Janetta
- Willems, Rob J. L.
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- Bonnet, Richard
- Quirke, Phil
- Meyerson, Matthew
- Cuppen, Edwin
- van Boxtel, Ruben
- Clevers, Hans
2020
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Brain (London, England : 1878), 2023-12, Vol.146 (12), p.5060-5069
- Dominik, Natalia
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- Currò, Riccardo
- Abati, Elena
- Facchini, Stefano
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- Macpherson, Hannah
- Di Bella, Daniela
- Sarto, Elisa
- Stevanovski, Igor
- Chintalaphani, Sanjog R
- Akcimen, Fulya
- Manini, Arianna
- Vegezzi, Elisa
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- Montgomery, Kylie-Ann
- Pirota, Valentina
- Crespan, Emmanuele
- Perini, Cecilia
- Grupelli, Glenda Paola
- Tomaselli, Pedro J
- Marques, Wilson
- Shaw, Joseph
- Polke, James
- Salsano, Ettore
- Fenu, Silvia
- Pareyson, Davide
- Pisciotta, Chiara
- Tofaris, George K
- Nemeth, Andrea H
- Ealing, John
- Radunovic, Aleksandar
- Kearney, Seamus
- Kumar, Kishore R
- Vucic, Steve
- Kennerson, Marina
- Reilly, Mary M
- Houlden, Henry
- Deveson, Ira
- Tucci, Arianna
- Taroni, Franco
- Cortese, Andrea
2023
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Nature communications, 2020-04, Vol.11 (1), p.1740-1740, Article 1740
2020
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Nature communications, 2020-01, Vol.11 (1), p.655-16, Article 655
- Cacheiro, Pilar
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- Bucan, Maja
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- Flenniken, Ann M.
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2020
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Genetics in medicine, 2020-12, Vol.22 (12), p.2041-2051
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2020
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Annals of neurology, 2022-01, Vol.91 (1), p.101-116
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- Rouaud, Tiphaine
- Bartsch, Oliver
- Freeman, William D
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Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project
2019
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Genetics in medicine, 2021-02, Vol.23 (2), p.408-414
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Genetics in medicine, 2022-10, Vol.24 (10), p.2079-2090
- Tucci, Arianna
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- Demidov, German
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- Ibáñez, K.
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- Kayikci, M.
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Genetics in medicine, 2023-01, Vol.25 (1), p.76-89
- Morsy, Heba
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- Boustred, C.R.
- Brittain, H.
- Caulfield, M.J.
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- Daugherty, L.C.
- Devereau, A.
- Foulger, R.E.
- Fowler, T.
- Furió-Tarí, P.
- Halai, D.
- Hamblin, A.
- Henderson, S.
- Holman, J.E.
- Hubbard, T.J.P.
- Ibáñez, K.
- Jackson, R.
- Jones, L.J.
- Kasperaviciute, D.
- Lahnstein, L.
- Leigh, S.E.A.
- Leong, I.U.S.
- Lopez, F.J.
- Maleady-Crowe, F.
- Mason, J.
- McDonagh, E.M.
- Moutsianas, L.
- Mueller, M.
- Murugaesu, N.
- Odhams, C.A.
- Patch, C.
- Perez-Gil, D.
- Pullinger, J.
- Rahim, T.
- Riesgo-Ferreiro, P.
- Rogers, T.
- Ryten, M.
- Savage, K.
- Scott, R.H.
- Siddiq, A.
- Sieghart, A.
- Smedley, D.
- Smith, K.R.
- Sosinsky, A.
- Stevens, H.E.
- Stuckey, A.
- Sultana, R.
- Thompson, S.R.
- Tucci, A.
- Walsh, E.
- Watters, S.A.
- Welland, M.J.
- Williams, E.
- Witkowska, K.
- Wood, S.M.
- Zarowiecki, M.
2023
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European journal of human genetics : EJHG, 2022-12, Vol.30 (12), p.1439-1443
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Brain (London, England : 1878), 2017-11, Vol.140 (11), p.2838-2850
- Wang, Haicui
- Salter, Claire G
- Refai, Osama
- Hardy, Holly
- Barwick, Katy E S
- Akpulat, Ugur
- Kvarnung, Malin
- Chioza, Barry A
- Harlalka, Gaurav
- Taylan, Fulya
- Sejersen, Thomas
- Wright, Jane
- Zimmerman, Holly H
- Karakaya, Mert
- Stüve, Burkhardt
- Weis, Joachim
- Schara, Ulrike
- Russell, Mark A
- Abdul-Rahman, Omar A
- Chilton, John
- Blakely, Randy D
- Baple, Emma L
- Cirak, Sebahattin
- Crosby, Andrew H
2017
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Journal of medical genetics, 2022-04, Vol.59 (4), p.366-369
- Ragoussis, Vassilis
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- Haines, Rebecca L
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- McClatchey, Martin A
- Sampson, Julian R
- Suri, Mohnish
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- Fry, Andrew E
- Taylor, Jenny C
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- Arumugam, P
- Baple, E L
- Bleda, M
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- Boustred, C R
- Brittain, H
- Caulfield, M J
- Chan, G C
- Craig, C E H
- Daugherty, L C
- de Burca, A
- Devereau, A
- Elgar, G
- Foulger, R E
- Fowler, T
- Furió-Tarí, P
- Hackett, J M
- Halai, D
- Hamblin, A
- Henderson, S
- Holman, J E
- Hubbard, T J P
- Ibáñez, K
- Jackson, R
- Jones, L J
- Kasperaviciute, D
- Kayikci, M
- Kousathanas, A
- Lahnstein, L
- Lawson, K
- Leigh, S E A
- Leong, I U S
- Lopez, F J
- Maleady-Crowe, F
- Mason, J
- McDonagh, E M
- Moutsianas, L
- Mueller, M
- Murugaesu, N
- Need, A C
- Odhams, C A
- Patch, C
- Pereira, M B
- Perez-Gil, D
- Polychronopoulos, D
- Pullinger, J
- Rahim, T
- Rendon, A
- Riesgo-Ferreiro, P
- Rogers, T
- Ryten, M
- Savage, K
- Sawant, K
- Scott, R H
- Siddiq, A
- Sieghart, A
- Smedley, D
- Smith, K R
- Smith, S C
- Sosinsky, A
- Spooner, W
- Stevens, H E
- Stuckey, A
- Sultana, R
- Thomas, E R A
- Thompson, S R
- Tregidgo, C
- Tucci, A
- Walsh, E
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Scientific reports, 2022-07, Vol.12 (1), p.11257-11257, Article 11257
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Nature communications, 2020-07, Vol.11 (1), p.3741-3741, Article 3741
2020
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Npj genomic medicine, 2022-03, Vol.7 (1), p.18-18, Article 18
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- Bagnall, Richard D.
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- Ambrose, J. C.
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- Baple, E. L.
- Bleda, M.
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- Chan, G. C.
- Craig, C. E. H.
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- Kasperaviciute, D.
- Kayikci, M.
- Lahnstein, L.
- Lawson, K.
- Leigh, S. E. A.
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- Lopez, F. J.
- Maleady‐Crowe, F.
- Mason, J.
- McDonagh, E. M.
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- Mueller, M.
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- Need, A. C.
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Frontiers in genetics, 2019, Vol.10, p.569-569
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PLoS genetics, 2020-11, Vol.16 (11), p.e1009161
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