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European journal of endocrinology, 2016-04, Vol.174 (4), p.R145
2016
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Cell, 2008-10, Vol.135 (1), p.37-48
2008
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Nature genetics, 2012-04, Vol.44 (4), p.379-380
- SANTEN, Gijs W. E
- ATEN, Emmelien
- WESSELS, Marja W
- DEN HOLLANDER, Nicolette S
- RUIVENKAMP, Claudia A. L
- OMMEN, Gert-Jan B.van
- BREUNING, Martijn H
- DEN DUNNEN, Johan T
- HAERINGEN, Arie Van
- KRIEK, Marjolein
- YU SUN
- ALMOMANI, Rowida
- GILISSEN, Christian
- NIELSEN, Maartje
- KANT, Sarina G
- SNOECK, Irina N
- PEETERS, Els A. J
- HILHORST-HOFSTEE, Yvonne
2012
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American journal of human genetics, 2012-02, Vol.90 (2), p.290-294
2012
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Journal of pediatric surgery, 2021-12, Vol.56 (12), p.2239-2252
2021
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American journal of human genetics, 2010-09, Vol.87 (3), p.418-423
2010
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The journal of clinical endocrinology and metabolism, 2019-08, Vol.104 (8), p.3157-3171
2019
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American journal of human genetics, 2023-11, Vol.110 (11), p.1938-1949
- Pagliara, Daria
- Ciolfi, Andrea
- Pedace, Lucia
- Haghshenas, Sadegheh
- Ferilli, Marco
- Levy, Michael A.
- Miele, Evelina
- Nardini, Claudia
- Cappelletti, Camilla
- Relator, Raissa
- Pitisci, Angela
- De Vito, Rita
- Pizzi, Simone
- Kerkhof, Jennifer
- McConkey, Haley
- Nazio, Francesca
- Kant, Sarina G.
- Di Donato, Maddalena
- Agolini, Emanuele
- Matraxia, Marta
- Pasini, Barbara
- Pelle, Alessandra
- Galluccio, Tiziana
- Novelli, Antonio
- Barakat, Tahsin Stefan
- Andreani, Marco
- Rossi, Francesca
- Mecucci, Cristina
- Savoia, Anna
- Sadikovic, Bekim
- Locatelli, Franco
- Tartaglia, Marco
2023
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American journal of human genetics, 2014-12, Vol.95 (6), p.763-770
- Ehmke, Nadja
- Caliebe, Almuth
- Koenig, Rainer
- Kant, Sarina G.
- Stark, Zornitza
- Cormier-Daire, Valérie
- Wieczorek, Dagmar
- Gillessen-Kaesbach, Gabriele
- Hoff, Kirstin
- Kawalia, Amit
- Thiele, Holger
- Altmüller, Janine
- Fischer-Zirnsak, Björn
- Knaus, Alexej
- Zhu, Na
- Heinrich, Verena
- Huber, Celine
- Harabula, Izabela
- Spielmann, Malte
- Horn, Denise
- Kornak, Uwe
- Hecht, Jochen
- Krawitz, Peter M.
- Nürnberg, Peter
- Siebert, Reiner
- Manzke, Hermann
- Mundlos, Stefan
2014
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Brain (London, England : 1878), 2020-01, Vol.143 (1), p.55-68
- Mak, Christopher C Y
- Doherty, Dan
- Lin, Angela E
- Vegas, Nancy
- Cho, Megan T
- Viot, Géraldine
- Dimartino, Clémantine
- Weisfeld-Adams, James D
- Lessel, Davor
- Joss, Shelagh
- Li, Chumei
- Gonzaga-Jauregui, Claudia
- Zarate, Yuri A
- Ehmke, Nadja
- Horn, Denise
- Troyer, Caitlin
- Kant, Sarina G
- Lee, Youngha
- Ishak, Gisele E
- Leung, Gordon
- Barone Pritchard, Amanda
- Yang, Sandra
- Bend, Eric G
- Filippini, Francesca
- Roadhouse, Chelsea
- Lebrun, Nicolas
- Mehaffey, Michele G
- Martin, Pierre-Marie
- Apple, Benjamin
- Millan, Francisca
- Puk, Oliver
- Hoffer, Mariette J V
- Henderson, Lindsay B
- McGowan, Ruth
- Wentzensen, Ingrid M
- Pei, Steven
- Zahir, Farah R
- Yu, Mullin
- Gibson, William T
- Seman, Ann
- Steeves, Marcie
- Murrell, Jill R
- Luettgen, Sabine
- Francisco, Elizabeth
- Strom, Tim M
- Amlie-Wolf, Louise
- Kaindl, Angela M
- Wilson, William G
- Halbach, Sara
- Basel-Salmon, Lina
- Lev-El, Noa
- Denecke, Jonas
- Vissers, Lisenka E L M
- Radtke, Kelly
- Chelly, Jamel
- Zackai, Elaine
- Friedman, Jan M
- Bamshad, Michael J
- Nickerson, Deborah A
- Reid, Russell R
- Devriendt, Koenraad
- Chae, Jong-Hee
- Stolerman, Elliot
- McDougall, Carey
- Powis, Zöe
- Bienvenu, Thierry
- Tan, Tiong Y
- Orenstein, Naama
- Dobyns, William B
- Shieh, Joseph T
- Choi, Murim
- Waggoner, Darrel
- Gripp, Karen W
- Parker, Michael J
- Stoler, Joan
- Lyonnet, Stanislas
- Cormier-Daire, Valérie
- Viskochil, David
- Hoffman, Trevor L
- Amiel, Jeanne
- Chung, Brian H Y
- Gordon, Christopher T
2020
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Hormone research in paediatrics, 2020-06, Vol.92 (6), p.372-381
2020
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American journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.862-876
- Menke, Leonie A.
- Gardeitchik, Thatjana
- Hammond, Peter
- Heimdal, Ketil R.
- Houge, Gunnar
- Hufnagel, Sophia B.
- Ji, Jianling
- Johansson, Stefan
- Kant, Sarina G.
- Kinning, Esther
- Leon, Eyby L.
- Newbury‐Ecob, Ruth
- Paolacci, Stefano
- Pfundt, Rolph
- Ragge, Nicola K.
- Rinne, Tuula
- Ruivenkamp, Claudia
- Saitta, Sulagna C.
- Sun, Yu
- Tartaglia, Marco
- Terhal, Paulien A.
- van Essen, Anthony J.
- Vigeland, Magnus D.
- Xiao, Bing
- Hennekam, Raoul C.
2018
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The journal of clinical endocrinology and metabolism, 2015-04, Vol.100 (4), p.E672-E680
2015
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American journal of medical genetics. Part A, 2015-11, Vol.167A (11), p.2685-2690
2015
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Brain (London, England : 1878), 2023-11, Vol.146 (11), p.4766-4783
- Levitin, Maria O
- Rawlins, Lettie E
- Sanchez-Andrade, Gabriela
- Arshad, Osama A
- Collins, Stephan C
- Sawiak, Stephen J
- Iffland, Phillip H
- Andersson, Malin H L
- Bupp, Caleb
- Cambridge, Emma L
- Coomber, Eve L
- Ellis, Ian
- Herkert, Johanna C
- Ironfield, Holly
- Jory, Logan
- Kretz, Perrine F
- Kant, Sarina G
- Neaverson, Alexandra
- Nibbeling, Esther
- Rowley, Christine
- Relton, Emily
- Sanderson, Mark
- Scott, Ethan M
- Stewart, Helen
- Shuen, Andrew Y
- Schreiber, John
- Tuck, Liz
- Tonks, James
- Terkelsen, Thorkild
- van Ravenswaaij-Arts, Conny
- Vasudevan, Pradeep
- Wenger, Olivia
- Wright, Michael
- Day, Andrew
- Hunter, Adam
- Patel, Minal
- Lelliott, Christopher J
- Crino, Peter B
- Yalcin, Binnaz
- Crosby, Andrew H
- Baple, Emma L
- Logan, Darren W
- Hurles, Matthew E
- Gerety, Sebastian S
2023
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American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2681-2693
- Menke, Leonie A.
- van Belzen, Martine J.
- Alders, Marielle
- Cristofoli, Francesca
- Ehmke, Nadja
- Fergelot, Patricia
- Foster, Alison
- Gerkes, Erica H.
- Hoffer, Mariëtte J. V.
- Horn, Denise
- Kant, Sarina G.
- Lacombe, Didier
- Leon, Eyby
- Maas, Saskia M.
- Melis, Daniela
- Muto, Valentina
- Park, Soo-Mi
- Peeters, Hilde
- Peters, Dorien J. M.
- Pfundt, Rolph
- van Ravenswaaij-Arts, Conny M. A.
- Tartaglia, Marco
- Hennekam, Raoul C. M.
2016
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European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1176-1185
- Ockeloen, Charlotte W
- Willemsen, Marjolein H
- de Munnik, Sonja
- van Bon, Bregje W M
- de Leeuw, Nicole
- Verrips, Aad
- Kant, Sarina G
- Jones, Elizabeth A
- Brunner, Han G
- van Loon, Rosa L E
- Smeets, Eric E J
- van Haelst, Mieke M
- van Haaften, Gijs
- Nordgren, Ann
- Malmgren, Helena
- Grigelioniene, Giedre
- Vermeer, Sascha
- Louro, Pedro
- Ramos, Lina
- Maal, Thomas J J
- van Heumen, Celeste C
- Yntema, Helger G
- Carels, Carine E L
- Kleefstra, Tjitske
2015
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European journal of endocrinology, 2015-06, Vol.172 (6), p.763
2015
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American journal of medical genetics. Part A, 2019-09, Vol.179 (9), p.1884-1894
- Bownass, Lucy
- Abbs, Stephen
- Armstrong, Ruth
- Baujat, Genevieve
- Behzadi, Gry
- Berentsen, Ragnhild Drage
- Burren, Christine
- Calder, Alistair
- Cormier‐Daire, Valérie
- Newbury‐Ecob, Ruth
- Foulds, Nicola
- Juliusson, Petur B.
- Kant, Sarina G.
- Lefroy, Henrietta
- Mehta, Sarju G.
- Merckoll, Else
- Michot, Caroline
- Monsell, Fergal
- Offiah, Amaka C.
- Richards, Allan
- Rosendahl, Karen
- Rustad, Cecilie F.
- Shears, Deborah
- Tveten, Kristian
- Wellesley, Diana
- Wordsworth, Paul
- Smithson, Sarah
2019
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American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.431-436
2020
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JAMA otolaryngology-- head & neck surgery, 2019-05, Vol.145 (5), p.431
2019
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Human genetics, 2019-01, Vol.138 (1), p.61-72
- Smits, Jeroen J.
- Oostrik, Jaap
- Beynon, Andy J.
- Kant, Sarina G.
- de Koning Gans, Pia A. M.
- Rotteveel, Liselotte J. C.
- Klein Wassink-Ruiter, Jolien S.
- Free, Rolien H.
- Maas, Saskia M.
- van de Kamp, Jiddeke
- Merkus, Paul
- Koole, Wouter
- Feenstra, Ilse
- Admiraal, Ronald J. C.
- Lanting, Cornelis P.
- Schraders, Margit
- Yntema, Helger G.
- Pennings, Ronald J. E.
- Kremer, Hannie
2019
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European journal of medical genetics, 2023-07, Vol.66 (7), p.104773-104773, Article 104773
2023
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European journal of endocrinology, 2018-08, Vol.179 (2), p.85
2018
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The journal of clinical endocrinology and metabolism, 2015-11, Vol.100 (11), p.3963-3966
2015
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