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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...American journal of human genetics, 2011-11, Vol.89 (5), p.675-681
- Clayton-Smith, Jill
- O'Sullivan, James
- Daly, Sarah
- Bhaskar, Sanjeev
- Day, Ruth
- Anderson, Beverley
- Voss, Anne K.
- Thomas, Tim
- Biesecker, Leslie G.
- Smith, Philip
- Fryer, Alan
- Chandler, Kate E.
- Kerr, Bronwyn
- Tassabehji, May
- Lynch, Sally-Ann
- Krajewska-Walasek, Malgorzata
- McKee, Shane
- Smith, Janine
- Sweeney, Elizabeth
- Mansour, Sahar
- Mohammed, Shehla
- Donnai, Dian
- Black, Graeme
2011
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Nature communications, 2019-10, Vol.10 (1), p.4630-10, Article 4630
- Gardner, Eugene J
- Prigmore, Elena
- Gallone, Giuseppe
- Danecek, Petr
- Samocha, Kaitlin E
- Handsaker, Juliet
- Gerety, Sebastian S
- Ironfield, Holly
- Short, Patrick J
- Sifrim, Alejandro
- Singh, Tarjinder
- Chandler, Kate E
- Clement, Emma
- Lachlan, Katherine L
- Prescott, Katrina
- Rosser, Elisabeth
- FitzPatrick, David R
- Firth, Helen V
- Hurles, Matthew E
2019
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American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1713-1733
- Keppler-Noreuil, Kim M.
- Sapp, Julie C.
- Lindhurst, Marjorie J.
- Parker, Victoria E.R.
- Blumhorst, Cathy
- Darling, Thomas
- Tosi, Laura L.
- Huson, Susan M.
- Whitehouse, Richard W.
- Jakkula, Eveliina
- Grant, Ian
- Balasubramanian, Meena
- Chandler, Kate E.
- Fraser, Jamie L.
- Gucev, Zoran
- Crow, Yanick J.
- Brennan, Leslie Manace
- Clark, Robin
- Sellars, Elizabeth A.
- Pena, Loren DM
- Krishnamurty, Vidya
- Shuen, Andrew
- Braverman, Nancy
- Cunningham, Michael L.
- Sutton, V. Reid
- Tasic, Velibor
- Graham Jr, John M.
- Geer Jr, Joseph
- Henderson, Alex
- Semple, Robert K.
- Biesecker, Leslie G.
2014
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Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
- Ratbi, Ilham
- Falkenberg, Kim D.
- Sommen, Manou
- Al-Sheqaih, Nada
- Guaoua, Soukaina
- Vandeweyer, Geert
- Urquhart, Jill E.
- Chandler, Kate E.
- Williams, Simon G.
- Roberts, Neil A.
- El Alloussi, Mustapha
- Black, Graeme C.
- Ferdinandusse, Sacha
- Ramdi, Hind
- Heimler, Audrey
- Fryer, Alan
- Lynch, Sally-Ann
- Cooper, Nicola
- Ong, Kai Ren
- Smith, Claire E.L.
- Inglehearn, Christopher F.
- Mighell, Alan J.
- Elcock, Claire
- Poulter, James A.
- Tischkowitz, Marc
- Davies, Sally J.
- Sefiani, Abdelaziz
- Mironov, Aleksandr A.
- Newman, William G.
- Waterham, Hans R.
- Van Camp, Guy
2015
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American journal of human genetics, 2011-06, Vol.88 (6), p.767-777
- BURKITT WRIGHT, Emma M. M
- SPENCER, Helen L
- MADDEN, Colm
- DODDS, Annabel
- CHANDLER, Kate E
- BANKA, Siddharth
- AU, Leon
- CLAYTON-SMITH, Jill
- KHAN, Naz
- BIESECKER, Leslie G
- WILSON, Meredith
- ROHRBACH, Marianne
- DALY, Sarah B
- COLOMBI, Marina
- GIUNTA, Cecilia
- BLACK, Graeme C. M
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- ZEEF, Leo A. H
- URQUHART, Jill
- ZOPPI, Nicoletta
- BONSHEK, Richard
- TOSOUNIDIS, Ioannis
- MOHAN, Meyyammai
2011
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Nature genetics, 2006-08, Vol.38 (8), p.910-916
- Bonthron, David T
- Goizet, Cyril
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2006
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American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.3003-3012
2017
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American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.170-175
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Molecular genetics and metabolism, 2014-12, Vol.113 (4), p.301-306
- Banka, Siddharth
- de Goede, Christian
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- Morris, Andrew A.M.
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- Feichtinger, René G.
- Hart, Claire
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2014
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Lancet neurology, 2013-12, Vol.12 (12), p.1159-1169
- Rice, Gillian I, PhD
- Forte, Gabriella M A, MPhil
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- Aeby, Alec, MD
- Abdel-Hamid, Mohamed S, MSc
- Ackroyd, Sam, MB ChB
- Allcock, Rebecca, FRCPath
- Bailey, Kathryn M, MRCPCH
- Balottin, Umberto, MD
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- Lin, Jean-Pierre S-M, PhD
- Livingston, John H, MB ChB
- Lourenco, Charles Marques, MD
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- Oades, Patrick, FRCPCH
- Peterson, Pärt, PhD
- Rasmussen, Magnhild, MD
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- Schmidt, Johanna Loewenstein, CGC
- Shalev, Stavit A, MD
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- Swoboda, Kathryn J, FACMG
- Temtamy, Samia A, PhD
- Vassallo, Grace, MD
- Vilain, Catheline N, MD
- Vogt, Julie, MRCP
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- Whitehouse, William P, FRCPCH
- Soler, Doriette, MD
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- Aglan, Mona S, PhD
- Zaki, Maha S, PhD
- Abdel-Salam, Ghada M H, PhD
- Vanderver, Adeline, MD
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- Crow, Yanick J, Prof
2013
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American journal of human genetics, 2017-12, Vol.101 (6), p.1021-1033
- Cuvertino, Sara
- Stuart, Helen M.
- Chandler, Kate E.
- Roberts, Neil A.
- Armstrong, Ruth
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- Bhaskar, Sanjeev
- Callewaert, Bert
- Clayton-Smith, Jill
- Davalillo, Cristina Hernando
- Deshpande, Charu
- Devriendt, Koenraad
- Digilio, Maria C.
- Dixit, Abhijit
- Edwards, Matthew
- Friedman, Jan M.
- Gonzalez-Meneses, Antonio
- Joss, Shelagh
- Kerr, Bronwyn
- Lampe, Anne Katrin
- Langlois, Sylvie
- Lennon, Rachel
- Loget, Philippe
- Ma, David Y.T.
- McGowan, Ruth
- Des Medt, Maryse
- O’Sullivan, James
- Odent, Sylvie
- Parker, Michael J.
- Pebrel-Richard, Céline
- Petit, Florence
- Stark, Zornitza
- Stockler-Ipsiroglu, Sylvia
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Journal of medical genetics, 2017-01, Vol.54 (1), p.64-72
2017
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British journal of dermatology (1951), 2023-01, Vol.188 (1), p.75-83
2023
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Journal of medical genetics, 2022-04, Vol.59 (4), p.393-398
- Molina-Ramírez, Leslie Patricia
- Kyle, Claire
- Ellingford, Jamie M
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- Clayton-Smith, Jill
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- Ealing, John
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- Chandler, Kate E
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Journal of medical genetics, 2018-02, Vol.55 (2), p.104-113
- Reijnders, Margot R F
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European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1377-1383
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American journal of human genetics, 2007-10, Vol.81 (4), p.713-725
- Rice, Gillian
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European journal of paediatric neurology, 2016-03, Vol.20 (2), p.286-295
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American journal of human genetics, 2011-08, Vol.89 (2), p.346-346
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Genetics in medicine, 2022-03, Vol.24 (3), p.631-644
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European journal of medical genetics, 2020-09, Vol.63 (9), p.103974-103974, Article 103974
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The veterinary journal (1997), 2008-06, Vol.176 (3), p.310-319
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American journal of medical genetics. Part A, 2015-03, Vol.167A (3), p.587-591
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Brain communications, 2023, Vol.5 (5), p.fcad222-fcad222
- Accogli, Andrea
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Obstetrical & gynecological survey, 2019-07, Vol.74 (7), p.394-396
- Lord, Jenny
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