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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...Clinical genetics, 2024-06, Vol.105 (6), p.661-665
2024
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American journal of human genetics, 2020-02, Vol.106 (2), p.234-245
- Beck, David B.
- Petracovici, Ana
- He, Chongsheng
- Moore, Hannah W.
- Louie, Raymond J.
- Ansar, Muhammad
- Douzgou, Sofia
- Sithambaram, Sivagamy
- Cottrell, Trudie
- Santos-Cortez, Regie Lyn P.
- Prijoles, Eloise J.
- Bend, Renee
- Keren, Boris
- Mignot, Cyril
- Nougues, Marie-Christine
- Õunap, Katrin
- Reimand, Tiia
- Pajusalu, Sander
- Zahid, Muhammad
- Saqib, Muhammad Arif Nadeem
- Buratti, Julien
- Seaby, Eleanor G.
- McWalter, Kirsty
- Telegrafi, Aida
- Baldridge, Dustin
- Shinawi, Marwan
- Leal, Suzanne M.
- Schaefer, G. Bradley
- Stevenson, Roger E.
- Banka, Siddharth
- Bonasio, Roberto
- Fahrner, Jill A.
2020
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Genome research, 2019-02, Vol.29 (2), p.159-170
- Lord, Jenny
- Gallone, Giuseppe
- Short, Patrick J
- McRae, Jeremy F
- Ironfield, Holly
- Wynn, Elizabeth H
- Gerety, Sebastian S
- He, Liu
- Kerr, Bronwyn
- Johnson, Diana S
- McCann, Emma
- Kinning, Esther
- Flinter, Frances
- Temple, I Karen
- Clayton-Smith, Jill
- McEntagart, Meriel
- Lynch, Sally Ann
- Joss, Shelagh
- Douzgou, Sofia
- Dabir, Tabib
- Clowes, Virginia
- McConnell, Vivienne P M
- Lam, Wayne
- Wright, Caroline F
- FitzPatrick, David R
- Firth, Helen V
- Barrett, Jeffrey C
- Hurles, Matthew E
2019
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European journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.576-586
2020
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Genetics in medicine, 2020-04, Vol.22 (4), p.745-751
- Lenassi, Eva
- Clayton-Smith, Jill
- Douzgou, Sofia
- Ramsden, Simon C.
- Ingram, Stuart
- Hall, Georgina
- Hardcastle, Claire L.
- Fletcher, Tracy A.
- Taylor, Rachel L.
- Ellingford, Jamie M.
- Newman, William D.
- Fenerty, Cecilia
- Sharma, Vinod
- Lloyd, I. Chris
- Biswas, Susmito
- Ashworth, Jane L.
- Black, Graeme C.
- Sergouniotis, Panagiotis I.
2020
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Clinical genetics, 2019-07, Vol.96 (1), p.72-84
2019
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Ophthalmology (Rochester, Minn.), 2017-07, Vol.124 (7), p.985-991
- Taylor, Rachel L., PhD
- Parry, Neil R.A., PhD
- Barton, Stephanie J., BSc
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- Ellingford, Jamie M., MRes
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- Morarji, Jiten, MSc, BMBS
- Nichol, Elisabeth J., DBO
- Williams, Lindsi C., DBO
- Douzgou, Sofia, PhD, MD
- Clayton-Smith, Jill, MD(Res), FRCP
- Ramsden, Simon C., PhD, FRCPath
- Sharma, Vinod, FRCOphth
- Biswas, Susmito, FRCOphth
- Lloyd, I. Chris, FRCOphth
- Ashworth, Jane L., PhD, FRCOphth
- Black, Graeme C., DPhil, FRCOphth
- Sergouniotis, Panagiotis I., PhD, FEBO
2017
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PloS one, 2020-07, Vol.15 (7), p.e0233582
2020
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Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.103-103, Article 103
- Smith, Michael
- Alexander, Elizabeth
- Marcinkute, Ruta
- Dan, Dorica
- Rawson, Myfanwy
- Banka, Siddharth
- Gavin, Jason
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- Sowmyalakshmi, Rasika
- Dallapiccola, Bruno
- Renieri, Alessandra
- Faivre, Laurence
- Kerr, Bronwyn
- Verloes, Alain
- Clayton-Smith, Jill
- Douzgou, Sofia
2020
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Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.110-110, Article 110
2022
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American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.557-564
- Ostrowski, Philip J.
- Zachariou, Anna
- Loveday, Chey
- Beleza‐Meireles, Ana
- Bertoli, Marta
- Dean, John
- Douglas, Andrew G. L.
- Ellis, Ian
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- Hague, Jennifer
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- Johnson, Diana
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- Kini, Usha
- Lachlan, Katherine
- Lam, Wayne
- Lees, Melissa
- Lynch, Sally
- Maitz, Silvia
- McKee, Shane
- Metcalfe, Kay
- Nathanson, Katherine
- Ockeloen, Charlotte W.
- Parker, Michael J.
- Pierson, Tyler M.
- Rahikkala, Elisa
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- Spano, Alice
- Van Maldergem, Lionel
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- Douzgou, Sofia
- Tatton‐Brown, Katrina
2019
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Genetics in medicine, 2021-10, Vol.23 (10), p.2023-2023
- Lenassi, Eva
- Clayton-Smith, Jill
- Douzgou, Sofia
- Ramsden, Simon C.
- Ingram, Stuart
- Hall, Georgina
- Hardcastle, Claire L.
- Fletcher, Tracy A.
- Taylor, Rachel L.
- Ellingford, Jamie M.
- Newman, William D.
- Fenerty, Cecilia
- Sharma, Vinod
- Lloyd, I. Chris
- Biswas, Susmito
- Ashworth, Jane L.
- Black, Graeme C.
- Sergouniotis, Panagiotis I.
2021
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Frontiers in genetics, 2021-09, Vol.12, p.693952-693952
2021
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Genetics in medicine, 2020-09, Vol.22 (9), p.1567-1567
- Calpena, Eduardo
- Cuellar, Araceli
- Bala, Krithi
- Swagemakers, Sigrid M. A.
- Koelling, Nils
- McGowan, Simon J.
- Phipps, Julie M.
- Balasubramanian, Meena
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- Douzgou, Sofia
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- Mathijssen, Irene M. J.
- Boardman-Pretty, Freya
- Boyadjiev, Simeon A.
- Wilkie, Andrew O. M.
2020
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European journal of medical genetics, 2013-02, Vol.56 (2), p.108-113
2013
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GeroScience, 2021-04, Vol.43 (2), p.459-461
2021
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Npj genomic medicine, 2021-11, Vol.6 (1), p.100-100, Article 100
- Levy, Michael A.
- Beck, David B.
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- Douzgou, Sofia
- Sithambaram, Sivagamy
- Cottrell, Trudie
- Ansar, Muhammad
- Kerkhof, Jennifer
- Mignot, Cyril
- Nougues, Marie-Christine
- Keren, Boris
- Moore, Hannah W.
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- Motazacker, M. Mahdi
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- Doheny, Kimberly F.
- Stevenson, Roger E.
- Banka, Siddharth
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2021
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The New England journal of medicine, 2021-11, Vol.385 (20), p.1868-1880
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2021
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Nature (London), 2020-07, Vol.583 (7814), p.96-102
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2020
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Nature (London), 2017-02, Vol.542 (7642), p.433-438
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2017
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American journal of human genetics, 2018-01, Vol.102 (1), p.175-187
- Faundes, Víctor
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- Vasudevan, Pradeep
- Vijayarangakannan, Parthiban
- Vogt, Julie
- Wakeling, Emma
- Whiteford, Margo
- Wilcox, Sarah
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- Wright, Caroline F.
- FitzPatrick, David R.
2018
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Clinical dysmorphology, 2017-10, Vol.26 (4), p.247-251
2017
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Genetics in medicine, 2020-06, Vol.22 (6), p.1005-1014
2020
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Clinical dysmorphology, 2019-07, Vol.28 (3), p.131-134
2019
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Pediatric and developmental pathology, 2008-07, Vol.11 (4), p.329-331
2008
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