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The journal of clinical endocrinology and metabolism, 2018-02, Vol.103 (2), p.415-428
2018
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Neurology, 2019-01, Vol.92 (2), p.e96
- Vlaskamp, Danique R M
- Shaw, Benjamin J
- Burgess, Rosemary
- Mei, Davide
- Montomoli, Martino
- Xie, Han
- Myers, Candace T
- Bennett, Mark F
- XiangWei, Wenshu
- Williams, Danielle
- Maas, Saskia M
- Brooks, Alice S
- Mancini, Grazia M S
- van de Laar, Ingrid M B H
- van Hagen, Johanna M
- Ware, Tyson L
- Webster, Richard I
- Malone, Stephen
- Berkovic, Samuel F
- Kalnins, Renate M
- Sicca, Federico
- Korenke, G Christoph
- van Ravenswaaij-Arts, Conny M A
- Hildebrand, Michael S
- Mefford, Heather C
- Jiang, Yuwu
- Guerrini, Renzo
- Scheffer, Ingrid E
2019
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Journal of medical genetics, 2013-05, Vol.50 (5), p.339-344
2013
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Journal of allergy and clinical immunology, 2022-03, Vol.149 (3), p.1120-1127.e8
2022
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Genetics in medicine, 2019-08, Vol.21 (8), p.1808-1820
- Valente, Federica Maria
- Sparago, Angela
- Freschi, Andrea
- Hill-Harfe, Katherine
- Maas, Saskia M
- Frints, Suzanna Gerarda Maria
- Alders, Marielle
- Pignata, Laura
- Franzese, Monica
- Angelini, Claudia
- Carli, Diana
- Mussa, Alessandro
- Gazzin, Andrea
- Gabbarini, Fulvio
- Acurzio, Basilia
- Ferrero, Giovanni Battista
- Bliek, Jet
- Williams, Charles A
- Riccio, Andrea
- Cerrato, Flavia
2019
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The journal of clinical endocrinology and metabolism, 2011-02, Vol.96 (2), p.E356-E359
2011
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The Cleft palate-craniofacial journal, 2023-09, Vol.60 (9), p.1118-1127
2023
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Human reproduction (Oxford), 2007-09, Vol.22 (9), p.2476-2480
2007
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Human molecular genetics, 2001-03, Vol.10 (5), p.467-476
2001
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Nature reviews. Endocrinology, 2018-04, Vol.14 (4), p.229
- Brioude, Frédéric
- Kalish, Jennifer M
- Mussa, Alessandro
- Foster, Alison C
- Bliek, Jet
- Ferrero, Giovanni Battista
- Boonen, Susanne E
- Cole, Trevor
- Baker, Robert
- Bertoletti, Monica
- Cocchi, Guido
- Coze, Carole
- De Pellegrin, Maurizio
- Hussain, Khalid
- Ibrahim, Abdulla
- Kilby, Mark D
- Krajewska-Walasek, Malgorzata
- Kratz, Christian P
- Ladusans, Edmund J
- Lapunzina, Pablo
- Le Bouc, Yves
- Maas, Saskia M
- Macdonald, Fiona
- Õunap, Katrin
- Peruzzi, Licia
- Rossignol, Sylvie
- Russo, Silvia
- Shipster, Caroleen
- Skórka, Agata
- Tatton-Brown, Katrina
- Tenorio, Jair
- Tortora, Chiara
- Grønskov, Karen
- Netchine, Irène
- Hennekam, Raoul C
- Prawitt, Dirk
- Tümer, Zeynep
- Eggermann, Thomas
- Mackay, Deborah J G
- Riccio, Andrea
- Maher, Eamonn R
2018
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Pediatric and developmental pathology, 2000-11, Vol.3 (6), p.597-602
2000
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The Journal of pediatrics, 2008-07, Vol.153 (1), p.95-100.e6
2008
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Clinical dysmorphology, 2000-01, Vol.9 (1), p.47-53
2000
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European radiology, 2017-10, Vol.27 (10), p.4445-4454
2017
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Acta neuropathologica, 2023-12, Vol.146 (6), p.837-840
2023
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Rheumatology (Oxford, England), 2020-09, Vol.59 (9), p.2392-2401
- Barendregt, Anouk M
- Veldkamp, Saskia R
- Hissink Muller, Petra C E
- van de Geer, Annemarie
- Aarts, Cathelijn
- van Gulik, E Charlotte
- Schilham, Marco W
- Kessel, Christoph
- Keizer, Mischa P
- Hemke, Robert
- Nassar-Sheikh Rashid, Amara
- Dolman, Koert M
- Schonenberg-Meinema, Dieneke
- ten Cate, Rebecca
- van den Berg, J Merlijn
- Maas, Mario
- Kuijpers, Taco W
2020
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Genetics in medicine, 2019-06, Vol.21 (6), p.1295-1307
- van der Sluijs, Pleuntje J
- Jansen, Sandra
- Adachi-Fukuda, Miho
- Alanay, Yasemin
- AlKindy, Adila
- Baban, Anwar
- Bayat, Allan
- Beck-Wödl, Stefanie
- Berry, Katherine
- Bijlsma, Emilia K
- Bok, Levinus A
- Brouwer, Alwin F J
- van der Burgt, Ineke
- Campeau, Philippe M
- Canham, Natalie
- Chrzanowska, Krystyna
- Chu, Yoyo W Y
- Chung, Brain H Y
- Dahan, Karin
- De Rademaeker, Marjan
- Destree, Anne
- Dudding-Byth, Tracy
- Earl, Rachel
- Elcioglu, Nursel
- Elias, Ellen R
- Fagerberg, Christina
- Gardham, Alice
- Gerkes, Erica H
- Grasshoff, Ute
- van Haeringen, Arie
- den Hollander, Nicolette S
- Horn, Denise
- Hunt, David
- Kant, Sarina G
- Kato, Mitsuhiro
- Kayserili, Hülya
- Kersseboom, Rogier
- Kilic, Esra
- Krajewska-Walasek, Malgorzata
- Lammers, Kylin
- Laulund, Lone W
- Lederer, Damien
- Lees, Melissa
- López-González, Vanesa
- Maas, Saskia
- Mancini, Grazia M S
- Marcelis, Carlo
- Martinez, Francisco
- Maystadt, Isabelle
- McGuire, Marianne
- McKee, Shane
- Mehta, Sarju
- Metcalfe, Kay
- Milunsky, Jeff
- Mizuno, Seiji
- Moeschler, John B
- Netzer, Christian
- Ockeloen, Charlotte W
- Oehl-Jaschkowitz, Barbara
- Okamoto, Nobuhiko
- Olminkhof, Sharon N M
- Orellana, Carmen
- Pasquier, Laurent
- Pottinger, Caroline
- Riehmer, Vera
- Robertson, Stephen P
- Roifman, Maian
- Rooryck, Caroline
- Ropers, Fabienne G
- Rosello, Monica
- Ruivenkamp, Claudia A L
- Sagiroglu, Mahmut S
- Sallevelt, Suzanne C E H
- Sanchis Calvo, Amparo
- Simsek-Kiper, Pelin O
- Soares, Gabriela
- Solaeche, Lucia
- Sonmez, Fatma Mujgan
- Splitt, Miranda
- Steenbeek, Duco
- Stegmann, Alexander P A
- Tanabe, Saori
- Uctepe, Eyyup
- Utine, G Eda
- Veenstra-Knol, Hermine E
- Venkateswaran, Sunita
- Vilain, Catheline
- Vincent-Delorme, Catherine
- Vulto-van Silfhout, Anneke T
- Wheeler, Patricia
- Wilson, Golder N
- Wilson, Louise C
- Wollnik, Bernd
- Kosho, Tomoki
- Wieczorek, Dagmar
- Eichler, Evan
- Pfundt, Rolph
- de Vries, Bert B A
- Clayton-Smith, Jill
- Santen, Gijs W E
2019
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The Pediatric infectious disease journal, 2017-09, Vol.36 (9), p.e223-e229
2017
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Genetics in medicine, 2021-02, Vol.23 (2), p.374-383
- Verberne, Eline A
- Goh, Shuxiang
- England, Jade
- van Ginkel, Manon
- Rafael-Croes, Louise
- Maas, Saskia
- Polstra, Abeltje
- Zarate, Yuri A
- Bosanko, Katherine A
- Pechter, Kieran B
- Bedoukian, Emma
- Izumi, Kosuke
- Chaudhry, Ayeshah
- Robin, Nathaniel H
- Boothe, Megan
- Lippa, Natalie C
- Aggarwal, Vimla
- De Vivo, Darryl C
- Lehman, Anna
- Study, Causes
- Stockler, Sylvia
- Bruel, Ange-Line
- Isidor, Bertrand
- Lemons, Jennifer
- Rodriguez-Buritica, David F
- Richmond, Christopher M
- Stark, Zornitza
- Agrawal, Pankaj B
- Kooy, R Frank
- Meuwissen, Marije E C
- Koolen, David A
- Pfundt, Rolf
- Lieden, Agne
- Anderlid, Britt-Marie
- Glatz, Dagmar
- Mannens, Marcel M A M
- Bakshi, Madhura
- Mallette, Frédérick A
- van Haelst, Mieke M
- Campeau, Philippe M
2021
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Heart (British Cardiac Society), 2019-02, Vol.105 (4), p.330
2019
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BMJ quality & safety, 2011-12, Vol.20 (12), p.1075-1080
2011
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Neurosurgery, 2005-12, Vol.57 (6), p.1183-1192
2005
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Genetics in medicine, 2015-06, Vol.17 (6), p.460-466
- De Rocker, Nina
- Vergult, Sarah
- Koolen, David
- Jacobs, Eva
- Hoischen, Alexander
- Zeesman, Susan
- Bang, Birgitte
- Béna, Frédérique
- Bockaert, Nele
- Bongers, Ernie M
- de Ravel, Thomy
- Devriendt, Koenraad
- Giglio, Sabrina
- Faivre, Laurence
- Joss, Shelagh
- Maas, Saskia
- Marle, Nathalie
- Novara, Francesca
- Nowaczyk, Malgorzata J M
- Peeters, Hilde
- Polstra, Abeltje
- Roelens, Filip
- Rosenberg, Carla
- Thevenon, Julien
- Tümer, Zeynep
- Vanhauwaert, Suzanne
- Varvagiannis, Konstantinos
- Willaert, Andy
- Willemsen, Marjolein
- Willems, Marjolaine
- Zuffardi, Orsetta
- Coucke, Paul
- Speleman, Frank
- Eichler, Evan E
- Kleefstra, Tjitske
- Menten, Björn
2015
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Circulation research, 2007-03, Vol.100 (6), p.842-849
2007
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Basic research in cardiology, 2011-09, Vol.106 (5), p.829-847
2011
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