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Nature (London), 2015-03, Vol.519 (7542), p.223-228
- van Kogelenberg, M
- Goudie, D
- Gray, E
- Harrison, L
- Hawkins, R
- Henderson, A
- Holder, S
- Irving, M
- Bayzetinova, T
- Jones, D
- Kini, U
- Kinning, E
- Kirby, G
- Kirk, C
- Kumar, D
- Lachlan, K
- Lees, M
- Lim, D
- Coomber, E L
- Lowther, G
- Lynch, S A
- Maher, E
- Mansour, S
- Maye, U
- McCann, E
- McMullan, D J
- McNerlan, S
- Metcalfe, K
- Mohammed, S
- Jones, P
- Moore, D
- Morton, J
- Mugalaasi, H
- Newbury-Ecob, R
- Ogilvie, C
- Park, S
- Parker, M J
- Patel, C
- Porteous, D
- Mason, L E
- Ragge, N
- Rankin, J
- Raymond, L
- Rosser, E
- Miller, R
- Sarkar, A
- Scott, C
- Scott, R
- Selby, A
- Shannon, N
- Simpkin, D
- Singzon, R
- Skitt, Z
- Rajan, D
- Splitt, M
- Stewart, F
- Swaminathan, G J
- Tatton-Brown, K
- Temple, I K
- Torokwa, A
- Turner, C
- Turnpenny, P
- Tysoe, C
- Vandersteen, A
- Walker, D
- Ahmed, M
- Widaa, S
- Williams, N
- Wragg, C
- Yau, M
- FitzPatrick, D R
- Anjum, U
- Balasubramanian, M
- Banerjee, R
- Baralle, D
- Baty, D
- Bennett, C
- Berg, J
- Bevan, A P
- Bourdon, L
- Brady, A
- Burton, J
- Chandler, K
- Cooper, N
- Cross, G
- D'Alessandro, M
- Dabir, T
- Davidson, R
- Davies, S
- Dean, J
- Deshpande, C
- Donnelly, C
- Douglas, A
- Eason, J
- Edkins, S
- Foulds, N
- Fryer, A
- Gardiner, C
- Pereira, S L Gomes
- Goodship, J
2015
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The New England journal of medicine, 2017-08, Vol.377 (7), p.633-643
2017
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Human mutation, 2015-12, Vol.36 (12), p.1197-1204
- Grozeva, Detelina
- Carss, Keren
- Spasic-Boskovic, Olivera
- Tejada, Maria-Isabel
- Gecz, Jozef
- Shaw, Marie
- Corbett, Mark
- Haan, Eric
- Thompson, Elizabeth
- Friend, Kathryn
- Hussain, Zaamin
- Hackett, Anna
- Field, Michael
- Renieri, Alessandra
- Stevenson, Roger
- Schwartz, Charles
- Floyd, James A.B.
- Bentham, Jamie
- Cosgrove, Catherine
- Keavney, Bernard
- Bhattacharya, Shoumo
- Hurles, Matthew
- Raymond, F. Lucy
2015
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Endocrinology (Philadelphia), 1988-10, Vol.123 (4), p.2003-2008
1988
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Journal of the Royal Asiatic Society, 2022-10, Vol.32 (4), p.877-896
2022
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Developmental medicine and child neurology, 2021-06, Vol.63 (6), p.712-720
- Sellier, Elodie
- Goldsmith, Shona
- McIntyre, Sarah
- Perra, Oliver
- Rackauskaite, Gija
- Badawi, Nadia
- Fares, Asma
- Smithers‐Sheedy, Hayley
- Ego, A
- Tronc, C
- Arnaud, C
- Delobel, M
- Mc Manus, V
- Lyons, A
- Perra, O
- McConnel, K
- Himmelmann, K
- Pahlman, M
- Hensey, O
- Dowding, V
- Kurinczuk, J
- Rackauskaite, G
- Laursen, B
- Torrioli, MG
- Marcelli, M
- Andersen, GL
- Julsen Hollung, S
- Bottos, M
- Gaffney, G
- de la Cruz, J
- Pallas, C
- Neubauer, D
- Radsel, A
- Virella, D
- Folha, T
- Greitane, A
- Hollody, K
- Csabi, G
- Dakovic, I
- Sigurðardóttir, S
- Einarsson, I
- Haberlandt, E
- Ortibus, E
- Franki, I
- Mejaski‐Bosnjak, V
- Kuenzle, C
- Tscherter, A
- Attard, S
- Papavasilou, A
- Horridge, K
- Platt, MJ
- Krägeloh‐Mann, I
- Horber, V
- Auld, M
- Badawi, N
- Blair, E
- Diviney, L
- Gibson, C
- Gibson, N
- Goldsmith, S
- Gration, D
- Hernandez, J
- Langdon, K
- Love, S
- Maloney, E
- Martin, T
- McIntyre, S
- Kay, F
- O’Grady, G
- Reddihough, D
- Reid, S
- Scott, H
- Smithers‐Sheedy, H
- Watson, L
2021
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Nature neuroscience, 2015-12, Vol.18 (12), p.1731
- Mircsof, Dennis
- Langouët, Maéva
- Rio, Marlène
- Moutton, Sébastien
- Siquier-Pernet, Karine
- Bole-Feysot, Christine
- Cagnard, Nicolas
- Nitschke, Patrick
- Gaspar, Ludmila
- Žnidarič, Matej
- Alibeu, Olivier
- Fritz, Ann-Kristina
- Wolfer, David P
- Schröter, Aileen
- Bosshard, Giovanna
- Rudin, Markus
- Koester, Christina
- Crestani, Florence
- Seebeck, Petra
- Boddaert, Nathalie
- Prescott, Katrina
- Hines, Rochelle
- Moss, Steven J
- Fritschy, Jean-Marc
- Munnich, Arnold
- Amiel, Jeanne
- Brown, Steven A
- Tyagarajan, Shiva K
- Colleaux, Laurence
2015
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1st edition., 2020
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Human molecular genetics, 2015-09, Vol.24 (17), p.4775-4779
2015
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American journal of human genetics, 2019-11, Vol.105 (5), p.933-946
- Aitken, Stuart
- McRae, Jeremy
- Kini, Usha
- Parker, Michael J.
- Joss, Shelagh
- Scott, Richard H.
- Hurles, Matthew E.
- FitzPatrick, David R.
- Morley, K.I.
- Al-Turki, S.
- Ambridge, K.
- Barrett, D.M.
- Bayzetinova, T.
- Krishnappa, N.
- Mason, L.E.
- Middleton, A.
- Prigmore, E.
- Tivey, A.R.
- Akawi, N.
- Andrews, R.
- Armstrong, R.
- Balasubramanian, M.
- Banerjee, R.
- Baty, D.
- Bernhard, B.
- Blair, E.
- Bourn, D.
- Brady, A.
- Brewer, C.
- Burn, J.
- Connell, F.
- Cooper, N.
- Cross, G.
- Dixit, A.
- Ellis, P.
- Fendick, T.
- Fisher, R.
- Greenhalgh, L.
- Hawkins, R.
- Hobson, E.
- Holden, S.
- Holder, S.
- Hurst, J.
- Ingram, S.
- Jarvis, J.
- Johnson, D.
- Joss, S.
- Kaemba, B.
- Kirby, G.
- Kraus, A.
- Kumar, D.
- Lim, D.
- Lowther, G.
- Marks, K.
- Maye, U.
- McConnell, V.
- McGowan, R.
- McMullan, D.J.
- Metcalfe, K.
- Mohammed, S.
- Nevitt, L.
- Newbury-Ecob, R.
- Ogilvie, C.
- Paterson, J.
- Payne, S.
- Porteous, D.
- Raymond, L.
- Roberts, E.
- Roberts, G.
- Roberts, P.
- Ross, A.
- Saggar, A.
- Sandford, R.
- Schweiger, S.
- Scott, C.
- Selby, A.
- Seller, A.
- Shears, D.
- Singzon, R.
- Smith, B.
- Sneddon, L.
- Stewart, F.
- Stewart, H.
- Suri, M.
- Swaminathan, G.J.
- Sweeney, E.
- Tolmie, J.
- Turner, C.
- Tysoe, C.
- Vasudevan, P.
- Vogt, J.
- Waters, J.
- Wellesley, D.
- Widaa, S.
- Wilcox, S.
- Williams, N.
- Yang, F.
- Wright, C.F.
- Barrett, J.C.
- Hurles, M.E.
2019
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American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2972-2980
- Tatton-Brown, Katrina
- Murray, Anne
- Hanks, Sandra
- Douglas, Jenny
- Armstrong, Ruth
- Banka, Siddharth
- Bird, Lynne M.
- Clericuzio, Carol L.
- Cormier-Daire, Valerie
- Cushing, Tom
- Flinter, Frances
- Jacquemont, Marie-Line
- Joss, Shelagh
- Kinning, Esther
- Lynch, Sally Ann
- Magee, Alex
- McConnell, Vivienne
- Medeira, Ana
- Ozono, Keiichi
- Patton, Michael
- Rankin, Julia
- Shears, Debbie
- Simon, Marleen
- Splitt, Miranda
- Strenger, Volker
- Stuurman, Kyra
- Taylor, Clare
- Titheradge, Hannah
- Van Maldergem, Lionel
- Temple, I. Karen
- Cole, Trevor
- Seal, Sheila
- Rahman, Nazneen
2013
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European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1074-1078
- Travaglini, Lorena
- Brancati, Francesco
- Silhavy, Jennifer
- Iannicelli, Miriam
- Nickerson, Elizabeth
- Elkhartoufi, Nadia
- Scott, Eric
- Spencer, Emily
- Gabriel, Stacey
- Thomas, Sophie
- Ben-Zeev, Bruria
- Bertini, Enrico
- Boltshauser, Eugen
- Chaouch, Malika
- Cilio, Maria Roberta
- de Jong, Mirjam M
- Kayserili, Hulya
- Ogur, Gonul
- Poretti, Andrea
- Signorini, Sabrina
- Uziel, Graziella
- Zaki, Maha S
- Johnson, Colin
- Attié-Bitach, Tania
- Gleeson, Joseph G
- Valente, Enza Maria
2013
Volltextzugriff (PDF)
Oncotarget, 2011-12, Vol.2 (12), p.1127-1133
- Tatton-Brown, Katrina
- Hanks, Sandra
- Ruark, Elise
- Zachariou, Anna
- Duarte, Silvana Del Vecchio
- Ramsay, Emma
- Snape, Katie
- Murray, Anne
- Perdeaux, Elizabeth R
- Seal, Sheila
- Loveday, Chey
- Banka, Siddharth
- Clericuzio, Carol
- Flinter, Frances
- Magee, Alex
- McConnell, Vivienne
- Patton, Michael
- Raith, Wolfgang
- Rankin, Julia
- Splitt, Miranda
- Strenger, Volker
- Taylor, Clare
- Wheeler, Patricia
- Temple, Karen I
- Cole, Trevor
- Douglas, Jenny
- Rahman, Nazneen
2011
Volltextzugriff (PDF)
Human mutation, 2010-05, Vol.31 (5), p.E1319-E1331
- Iannicelli, Miriam
- Brancati, Francesco
- Mougou-Zerelli, Soumaya
- Mazzotta, Annalisa
- Thomas, Sophie
- Elkhartoufi, Nadia
- Travaglini, Lorena
- Gomes, Céline
- Luigi Ardissino, Gian
- Bertini, Enrico
- Boltshauser, Eugen
- Castorina, Pierangela
- D'Arrigo, Stefano
- Fischetto, Rita
- Leroy, Brigitte
- Loget, Philippe
- Bonnière, Maryse
- Starck, Lena
- Tantau, Julia
- Gentilin, Barbara
- Majore, Silvia
- Swistun, Dominika
- Flori, Elizabeth
- Lalatta, Faustina
- Pantaleoni, Chiara
- Penzien, Johannes
- Grammatico, Paola
- Dallapiccola, Bruno
- Gleeson, Joseph G
- Attie-Bitach, Tania
- Valente, Enza Maria
2010
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JAMA network open, 2023-05, Vol.6 (5), p.e2313354-e2313354
2023
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Heart (British Cardiac Society), 2008-04, Vol.94 (4), p.502-507
2008
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PloS one, 2024, Vol.19 (3), p.e0300381-e0300381
2024
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PloS one, 2019-09, Vol.14 (9), p.e0222727-e0222727
2019
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PloS one, 2023-04, Vol.18 (4), p.e0283540-e0283540
2023
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PloS one, 2021-05, Vol.16 (5), p.e0250422-e0250422
2021
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Reimagining Graduate Supervision in Developing Contexts, 2018, p.7-22
1, 2018
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Reimagining Graduate Supervision in Developing Contexts, 2018, p.23-37
1, 2018
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Reimagining Graduate Supervision in Developing Contexts, 2018, p.68-82
1, 2018
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PloS one, 2021-05, Vol.16 (5), p.e0250527-e0250527
2021
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Reimagining Graduate Supervision in Developing Contexts, 2018, p.51-67
1, 2018
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