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Endocrinology, diabetes & metabolism case reports, 2023-02, Vol.2023 (1), p.1-6
2023
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Diabetes research and clinical practice, 2023-07, Vol.201, p.110718-110718, Article 110718
2023
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Endocrine-related cancer, 2018-02, Vol.25 (2), p.111-122
2018
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Experimental cell research, 2019-01, Vol.374 (1), p.38-45
2019
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BMJ case reports, 2019-12, Vol.12 (12), p.e230551
2019
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Oncotarget, 2016-08, Vol.7 (34), p.55491-55505
2016
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Medical journal of Australia, 2009-09, Vol.191 (6), p.339-344
2009
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Postgraduate medical journal, 2011-06, Vol.87 (1028), p.405-409
2011
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Diabetes research and clinical practice, 2012-06, Vol.96 (3), p.e63-e65
2012
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Endocrinology, diabetes & metabolism case reports, 2017-06, Vol.2017
2017
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Diabetes/metabolism research and reviews, 2008-05, Vol.24 (4), p.294-300
2008
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Australian family physician, 2008-11, Vol.37 (11), p.929-931
2008
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Journal of pediatric endocrinology & metabolism : JPEM, 1998-03, Vol.11 (2), p.195
1998
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The Journal of experimental medicine, 2017-09, Vol.214 (9), p.2547-2562
- Schwerd, Tobias
- Twigg, Stephen R F
- Aschenbrenner, Dominik
- Manrique, Santiago
- Miller, Kerry A
- Taylor, Indira B
- Capitani, Melania
- McGowan, Simon J
- Sweeney, Elizabeth
- Weber, Astrid
- Chen, Liye
- Bowness, Paul
- Riordan, Andrew
- Cant, Andrew
- Freeman, Alexandra F
- Milner, Joshua D
- Holland, Steven M
- Frede, Natalie
- Müller, Miryam
- Schmidt-Arras, Dirk
- Grimbacher, Bodo
- Wall, Steven A
- Jones, E Yvonne
- Wilkie, Andrew O M
- Uhlig, Holm H
2017
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American journal of human genetics, 2014-01, Vol.94 (1), p.120-128
- Favaro, Francine P.
- Alvizi, Lucas
- Zechi-Ceide, Roseli M.
- Bertola, Debora
- Felix, Temis M.
- de Souza, Josiane
- Raskin, Salmo
- Twigg, Stephen R.F.
- Weiner, Andrea M.J.
- Armas, Pablo
- Margarit, Ezequiel
- Calcaterra, Nora B.
- Andersen, Gregers R.
- McGowan, Simon J.
- Wilkie, Andrew O.M.
- Richieri-Costa, Antonio
- de Almeida, Maria L.G.
- Passos-Bueno, Maria Rita
2014
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American journal of human genetics, 2016-06, Vol.98 (6), p.1256-1265
- Twigg, Stephen R.F.
- Hufnagel, Robert B.
- Miller, Kerry A.
- Zhou, Yan
- McGowan, Simon J.
- Taylor, John
- Craft, Jude
- Taylor, Jenny C.
- Santoro, Stephanie L.
- Huang, Taosheng
- Hopkin, Robert J.
- Brady, Angela F.
- Clayton-Smith, Jill
- Clericuzio, Carol L.
- Grange, Dorothy K.
- Groesser, Leopold
- Hafner, Christian
- Horn, Denise
- Temple, I. Karen
- Dobyns, William B.
- Curry, Cynthia J.
- Jones, Marilyn C.
- Wilkie, Andrew O.M.
2016
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American journal of human genetics, 2016-07, Vol.99 (1), p.125-138
- Fenwick, Aimee L.
- Kliszczak, Maciej
- Cooper, Fay
- Murray, Jennie
- Sanchez-Pulido, Luis
- Twigg, Stephen R.F.
- Goriely, Anne
- McGowan, Simon J.
- Miller, Kerry A.
- Taylor, Indira B.
- Logan, Clare
- Bozdogan, Sevcan
- Danda, Sumita
- Dixon, Joanne
- Elsayed, Solaf M.
- Elsobky, Ezzat
- Gardham, Alice
- Hoffer, Mariette J.V.
- Koopmans, Marije
- McDonald-McGinn, Donna M.
- Santen, Gijs W.E.
- Savarirayan, Ravi
- de Silva, Deepthi
- Vanakker, Olivier
- Wall, Steven A.
- Wilson, Louise C.
- Yuregir, Ozge Ozalp
- Zackai, Elaine H.
- Ponting, Chris P.
- Jackson, Andrew P.
- Wilkie, Andrew O.M.
- Niedzwiedz, Wojciech
- Bicknell, Louise S.
2016
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American journal of human genetics, 2015-09, Vol.97 (3), p.378-388
- Twigg, Stephen R.F.
- Forecki, Jennifer
- Goos, Jacqueline A.C.
- Richardson, Ivy C.A.
- Hoogeboom, A. Jeannette M.
- van den Ouweland, Ans M.W.
- Swagemakers, Sigrid M.A.
- Lequin, Maarten H.
- Van Antwerp, Daniel
- McGowan, Simon J.
- Westbury, Isabelle
- Miller, Kerry A.
- Wall, Steven A.
- van der Spek, Peter J.
- Mathijssen, Irene M.J.
- Pauws, Erwin
- Merzdorf, Christa S.
- Wilkie, Andrew O.M.
2015
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Proceedings of the National Academy of Sciences - PNAS, 2004-06, Vol.101 (23), p.8652-8657
2004
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American journal of human genetics, 2012-11, Vol.91 (5), p.897-905
2012
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American journal of human genetics, 2019-04, Vol.104 (4), p.709-720
- Calpena, Eduardo
- Hervieu, Alexia
- Kaserer, Teresa
- Swagemakers, Sigrid M.A.
- Goos, Jacqueline A.C.
- Popoola, Olajumoke
- Ortiz-Ruiz, Maria Jesus
- Barbaro-Dieber, Tina
- Bownass, Lucy
- Brilstra, Eva H.
- Brimble, Elise
- Foulds, Nicola
- Grebe, Theresa A.
- Harder, Aster V.E.
- Lees, Melissa M.
- Monaghan, Kristin G.
- Newbury-Ecob, Ruth A.
- Ong, Kai-Ren
- Osio, Deborah
- Reynoso Santos, Francis Jeshira
- Ruzhnikov, Maura R.Z.
- Telegrafi, Aida
- van Binsbergen, Ellen
- van Dooren, Marieke F.
- van der Spek, Peter J.
- Blagg, Julian
- Twigg, Stephen R.F.
- Mathijssen, Irene M.J.
- Clarke, Paul A.
- Wilkie, Andrew O.M.
2019
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Human molecular genetics, 2009-01, Vol.18 (1), p.43-50
2009
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Journal of medical genetics, 2018-01, Vol.55 (1), p.28
- Hamilton, Mark J
- Caswell, Richard C
- Canham, Natalie
- Cole, Trevor
- Firth, Helen V
- Foulds, Nicola
- Heimdal, Ketil
- Hobson, Emma
- Houge, Gunnar
- Joss, Shelagh
- Kumar, Dhavendra
- Lampe, Anne Katrin
- Maystadt, Isabelle
- McKay, Victoria
- Metcalfe, Kay
- Newbury-Ecob, Ruth
- Park, Soo-Mi
- Robert, Leema
- Rustad, Cecilie F
- Wakeling, Emma
- Wilkie, Andrew O M
- Study, The Deciphering Developmental Disorders
- Twigg, Stephen R F
- Suri, Mohnish
2018
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Human molecular genetics, 2013-04, Vol.22 (8), p.1654-1662
- Twigg, Stephen R F
- Babbs, Christian
- van den Elzen, Marijke E P
- Goriely, Anne
- Taylor, Stephen
- McGowan, Simon J
- Giannoulatou, Eleni
- Lonie, Lorne
- Ragoussis, Jiannis
- Sadighi Akha, Elham
- Knight, Samantha J L
- Zechi-Ceide, Roseli M
- Hoogeboom, Jeannette A M
- Pober, Barbara R
- Toriello, Helga V
- Wall, Steven A
- Rita Passos-Bueno, M
- Brunner, Han G
- Mathijssen, Irene M J
- Wilkie, Andrew O M
2013
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American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.615-627
- Glass, Graeme E.
- O'Hara, Justine
- Canham, Natalie
- Cilliers, Deirdre
- Dunaway, David
- Fenwick, Aimee L.
- Jeelani, Noor‐Owase
- Johnson, David
- Lester, Tracy
- Lord, Helen
- Morton, Jenny E. V.
- Nishikawa, Hiroshi
- Noons, Peter
- Schwiebert, Kemmy
- Shipster, Caroleen
- Taylor‐Beadling, Alison
- Twigg, Stephen R. F.
- Vasudevan, Pradeep
- Wall, Steven A.
- Wilkie, Andrew O. M.
- Wilson, Louise C.
2019
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