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European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.141-153
- Bertoli-Avella, Aida M
- Beetz, Christian
- Ameziane, Najim
- Rocha, Maria Eugenia
- Guatibonza, Pilar
- Pereira, Catarina
- Calvo, Maria
- Herrera-Ordonez, Natalia
- Segura-Castel, Monica
- Diego-Alvarez, Dan
- Zawada, Michal
- Kandaswamy, Krishna K
- Werber, Martin
- Paknia, Omid
- Zielske, Susan
- Ugrinovski, Dimitar
- Warnack, Gitte
- Kampe, Kapil
- Iurașcu, Marius-Ionuț
- Cozma, Claudia
- Vogel, Florian
- Alhashem, Amal
- Hertecant, Jozef
- Al-Shamsi, Aisha M
- Alswaid, Abdulrahman Faiz
- Eyaid, Wafaa
- Al Mutairi, Fuad
- Alfares, Ahmed
- Albalwi, Mohammed A
- Alfadhel, Majid
- Al-Sannaa, Nouriya Abbas
- Reardon, Willie
- Alanay, Yasemin
- Rolfs, Arndt
- Bauer, Peter
2021
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Clinical genetics, 2020-03, Vol.97 (3), p.396-406
- Morlino, Silvia
- Micale, Lucia
- Ritelli, Marco
- Rohrbach, Marianne
- Zoppi, Nicoletta
- Vandersteen, Anthony
- Mackay, Sara
- Agolini, Emanuele
- Cocciadiferro, Dario
- Sasaki, Erina
- Madeo, Annalisa
- Ferraris, Alessandro
- Reardon, Willie
- Di Rocco, Maja
- Novelli, Antonio
- Grammatico, Paola
- Malfait, Fransiska
- Mazza, Tommaso
- Hakim, Alan
- Giunta, Cecilia
- Colombi, Marina
- Castori, Marco
2020
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Human mutation, 2018-09, Vol.39 (9), p.1246-1261
- Meester, Josephina A.N.
- Sukalo, Maja
- Schröder, Kim C.
- Schanze, Denny
- Baynam, Gareth
- Borck, Guntram
- Bramswig, Nuria C.
- Duman, Duygu
- Gilbert‐Dussardier, Brigitte
- Holder‐Espinasse, Muriel
- Itin, Peter
- Johnson, Diana S.
- Joss, Shelagh
- Koillinen, Hannele
- McKenzie, Fiona
- Morton, Jenny
- Nelle, Heike
- Reardon, Willie
- Roll, Claudia
- Salih, Mustafa A.
- Savarirayan, Ravi
- Scurr, Ingrid
- Splitt, Miranda
- Thompson, Elizabeth
- Titheradge, Hannah
- Travers, Colm P.
- Maldergem, Lionel
- Whiteford, Margo
- Wieczorek, Dagmar
- Vandeweyer, Geert
- Trembath, Richard
- Laer, Lut
- Loeys, Bart L.
- Zenker, Martin
- Southgate, Laura
- Wuyts, Wim
2018
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European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1165-1170
- Gannon, Tamsin
- Perveen, Rahat
- Schlecht, Hélene
- Ramsden, Simon
- Anderson, Beverley
- Kerr, Bronwyn
- Day, Ruth
- Banka, Siddharth
- Suri, Mohnish
- Berland, Siren
- Gabbett, Michael
- Ma, Alan
- Lyonnet, Stan
- Cormier-Daire, Valerie
- Yilmaz, Rüstem
- Borck, Guntram
- Wieczorek, Dagmar
- Anderlid, Britt-Marie
- Smithson, Sarah
- Vogt, Julie
- Moore-Barton, Heather
- Simsek-Kiper, Pelin Ozlem
- Maystadt, Isabelle
- Destrée, Anne
- Bucher, Jessica
- Angle, Brad
- Mohammed, Shehla
- Wakeling, Emma
- Price, Sue
- Singer, Amihood
- Sznajer, Yves
- Toutain, Annick
- Haye, Damien
- Newbury-Ecob, Ruth
- Fradin, Melanie
- McGaughran, Julie
- Tuysuz, Beyhan
- Tein, Mark
- Bouman, Katelijne
- Dabir, Tabib
- Van den Ende, Jenneke
- Luk, Ho Ming
- Pilz, Daniela T
- Eason, Jacqueline
- Davies, Sally
- Reardon, Willie
- Garavelli, Livia
- Zuffardi, Orsetta
- Devriendt, Koen
- Armstrong, Ruth
- Johnson, Diana
- Doco-Fenzy, Martine
- Bijlsma, Emilia
- Unger, Sheila
- Veenstra-Knol, Hermine E
- Kohlhase, Jürgen
- Lo, Ivan F M
- Smith, Janine
- Clayton-Smith, Jill
2015
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American journal of human genetics, 2011-05, Vol.88 (5), p.574-585
- Southgate, Laura
- Machado, Rajiv D.
- Snape, Katie M.
- Primeau, Martin
- Dafou, Dimitra
- Ruddy, Deborah M.
- Branney, Peter A.
- Fisher, Malcolm
- Lee, Grace J.
- Simpson, Michael A.
- He, Yi
- Bradshaw, Teisha Y.
- Blaumeiser, Bettina
- Winship, William S.
- Reardon, Willie
- Maher, Eamonn R.
- FitzPatrick, David R.
- Wuyts, Wim
- Zenker, Martin
- Lamarche-Vane, Nathalie
- Trembath, Richard C.
2011
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American journal of human genetics, 2012-02, Vol.90 (2), p.290-294
2012
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American journal of human genetics, 2010-06, Vol.86 (6), p.963-969
- Daly, Sarah B.
- Urquhart, Jill E.
- Hilton, Emma
- McKenzie, Edward A.
- Kammerer, Richard A.
- Lewis, Malcolm
- Kerr, Bronwyn
- Stuart, Helen
- Donnai, Dian
- Long, David A.
- Burgu, Berk
- Aydogdu, Ozgu
- Derbent, Murat
- Garcia-Minaur, Sixto
- Reardon, Willie
- Gener, Blanca
- Shalev, Stavit
- Smith, Rupert
- Woolf, Adrian S.
- Black, Graeme C.
- Newman, William G.
2010
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American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2707-2723
- Rump, Patrick
- de Leeuw, Nicole
- van Essen, Anthonie J.
- Verschuuren-Bemelmans, Corien C.
- Veenstra-Knol, Hermine E.
- Swinkels, Mariëlle E.M.
- Oostdijk, Wilma
- Ruivenkamp, Claudia
- Reardon, Willie
- de Munnik, Sonja
- Ruiter, Mariken
- Frumkin, Ayala
- Lev, Dorit
- Evers, Christina
- Sikkema-Raddatz, Birgit
- Dijkhuizen, Trijnie
- van Ravenswaaij-Arts, Conny M.
2014
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American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.333-339
- Gallione, Carol
- Aylsworth, Arthur S.
- Beis, Jill
- Berk, Terri
- Bernhardt, Barbara
- Clark, Robin D.
- Clericuzio, Carol
- Danesino, Cesare
- Drautz, Joanne
- Fahl, Jeffrey
- Fan, Zheng
- Faughnan, Marie E.
- Ganguly, Arupa
- Garvie, John
- Henderson, Katharine
- Kini, Usha
- Leedom, Tracey
- Ludman, Mark
- Lux, Andreas
- Maisenbacher, Melissa
- Mazzucco, Sara
- Olivieri, Carla
- Ploos van Amstel, Johannes K.
- Prigoda-Lee, Nadia
- Pyeritz, Reed E.
- Reardon, Willie
- Vandezande, Kirk
- Waldman, J. Deane
- White Jr, Robert I.
- Williams, Charles A.
- Marchuk, Douglas A.
2010
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American journal of medical genetics. Part A, 2011-01, Vol.155A (1), p.22-32
- Milunsky, Jeff M.
- Maher, Tom M.
- Zhao, Geping
- Wang, Zhenyuan
- Mulliken, John B.
- Chitayat, David
- Clemens, Michele
- Stalker, Heather J.
- Bauer, Mislen
- Burch, Michele
- Chénier, Sébastien
- Cunningham, Michael L.
- Drack, Arlene V.
- Janssens, Sandra
- Karlea, Audrey
- Klatt, Regan
- Kini, Usha
- Klein, Ophir
- Lachmeijer, Augusta M.
- Megarbane, Andre
- Mendelsohn, Nancy J.
- Meschino, Wendy S.
- Mortier, Geert R.
- Parkash, Sandhya
- Ray, C. Renai
- Roberts, Angharad
- Roberts, Amy
- Reardon, Willie
- Schnur, Rhonda E.
- Smith, Rosemarie
- Splitt, Miranda
- Tezcan, Kamer
- Whiteford, Margo L.
- Wong, Derek A.
- Zori, Roberto
- Lin, Angela E.
2011
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American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2733-2742
- de Munnik, Sonja A.
- Otten, Barto J.
- Schoots, Jeroen
- Bicknell, Louise S.
- Aftimos, Salim
- Al‐Aama, Jumana Y.
- van Bever, Yolande
- Bober, Michael B.
- Borm, George F.
- Clayton‐Smith, Jill
- Deal, Cheri L.
- Edrees, Alaa Y.
- Feingold, Murray
- Fryer, Alan
- van Hagen, Johanna M.
- Hennekam, Raoul C.
- Jansweijer, Maaike C.E.
- Johnson, Diana
- Kant, Sarina G.
- Opitz, John M.
- Ramadevi, A. Radha
- Reardon, Willie
- Ross, Alison
- Sarda, Pierre
- Schrander‐Stumpel, Constance T.R.M.
- Sluiter, A. Erik
- Temple, I. Karen
- Terhal, Paulien A.
- Toutain, Annick
- Wise, Carol A.
- Wright, Michael
- Skidmore, David L.
- Samuels, Mark E.
- Hoefsloot, Lies H.
- Knoers, Nine V.A.M.
- Brunner, Han G.
- Jackson, Andrew P.
- Bongers, Ernie M.H.F.
2012
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Cell reports (Cambridge), 2016-10, Vol.17 (3), p.735-747
2016
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Clinical genetics, 2021-09, Vol.100 (3), p.292-297
2021
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American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3069-3082
- Fergelot, Patricia
- Van Belzen, Martine
- Van Gils, Julien
- Afenjar, Alexandra
- Armour, Christine M.
- Arveiler, Benoit
- Beets, Lex
- Burglen, Lydie
- Busa, Tiffany
- Collet, Marie
- Deforges, Julie
- de Vries, Bert B. A.
- Dominguez Garrido, Elena
- Dorison, Nathalie
- Dupont, Juliette
- Francannet, Christine
- Garciá-Minaúr, Sixto
- Gabau Vila, Elisabeth
- Gebre-Medhin, Samuel
- Gener Querol, Blanca
- Geneviève, David
- Gérard, Marion
- Gervasini, Cristina Giovanna
- Goldenberg, Alice
- Josifova, Dragana
- Lachlan, Katherine
- Maas, Saskia
- Maranda, Bruno
- Moilanen, Jukka S.
- Nordgren, Ann
- Parent, Philippe
- Rankin, Julia
- Reardon, Willie
- Rio, Marlène
- Roume, Joëlle
- Shaw, Adam
- Smigiel, Robert
- Sojo, Amaia
- Solomon, Benjamin
- Stembalska, Agnieszka
- Stumpel, Constance
- Suarez, Francisco
- Terhal, Paulien
- Thomas, Simon
- Touraine, Renaud
- Verloes, Alain
- Vincent-Delorme, Catherine
- Wincent, Josephine
- Peters, Dorien J. M.
- Bartsch, Oliver
- Larizza, Lidia
- Lacombe, Didier
- Hennekam, Raoul C.
2016
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American journal of human genetics, 2019-08, Vol.105 (2), p.283-301
- Haijes, Hanneke A.
- Koster, Maria J.E.
- Rehmann, Holger
- Li, Dong
- Hakonarson, Hakon
- Cappuccio, Gerarda
- Hancarova, Miroslava
- Lehalle, Daphne
- Reardon, Willie
- Schaefer, G. Bradley
- Lehman, Anna
- van de Laar, Ingrid M.B.H.
- Tesselaar, Coranne D.
- Turner, Clesson
- Goldenberg, Alice
- Patrier, Sophie
- Thevenon, Julien
- Pinelli, Michele
- Brunetti-Pierri, Nicola
- Prchalová, Darina
- Havlovicová, Markéta
- Vlckova, Markéta
- Sedláček, Zdeněk
- Lopez, Elena
- Ragoussis, Vassilis
- Pagnamenta, Alistair T.
- Kini, Usha
- Vos, Harmjan R.
- van Es, Robert M.
- van Schaik, Richard F.M.A.
- van Essen, Ton A.J.
- Kibaek, Maria
- Taylor, Jenny C.
- Sullivan, Jennifer
- Shashi, Vandana
- Petrovski, Slave
- Fagerberg, Christina
- Martin, Donna M.
- van Gassen, Koen L.I.
- Pfundt, Rolph
- Falk, Marni J.
- McCormick, Elizabeth M.
- Timmers, H.T. Marc
- van Hasselt, Peter M.
2019
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European journal of human genetics : EJHG, 2020-03, Vol.28 (3), p.367-372
2020
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European journal of human genetics : EJHG, 2012-06, Vol.20 (6), p.598-606
- DE MUNNIK, Sonja A
- BICKNELL, Louise S
- HAGEN, Johanna M.van
- HENNEKAM, Raoul C
- JANSWEIJER, Maaike Ce
- JOHNSON, Diana
- KANT, Sarina G
- OPITZ, John M
- RADHA RAMADEVI, A
- REARDON, Willie
- ROSS, Alison
- SARDA, Pierre
- AFTIMOS, Salim
- SCHRANDER-STUMPEL, Constance Trm
- SCHOOTS, Jeroen
- KAREN TEMPLE, I
- TERHAL, Paulien A
- TOUTAIN, Annick
- WISE, Carol A
- WRIGHT, Michael
- SKIDMORE, David L
- ESAMUELS, Mark
- HHOEFSLOOT, Lies
- AL-AAMA, Jumana Y
- VAMKNOERS, Nine
- BRUNNER, Han G
- JACKSON, Andrew P
- BONGERS, Ernie Mhf
- BEVER, Yolande Van
- BOBER, Michael B
- CLAYTON-SMITH, Jill
- EDREES, Alaa Y
- FEINGOLD, Murray
- FRYER, Alan
2012
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European journal of human genetics : EJHG, 2012-02, Vol.20 (2), p.166-170
- NOWAKOWSKA, Beata A
- DE LEEUW, Nicole
- PFUNDT, Rolph
- MIELOO, Hanneke
- VAN ESSEN, Ton
- DE VRIES, Bert Ba
- GREEN, Andrew
- REARDON, Willie
- FRYNS, Jean-Pierre
- VERMEESCH, Joris R
- RUIVENKAMP, Claudia Al
- SIKKEMA-RADDATZ, Birgit
- CROLLA, John A
- THOELEN, Reinhilde
- KOOPMANS, Marije
- DEN HOLLANDER, Nicolette
- VAN HAERINGEN, Arie
- VAN DER KEVIE-KERSEMAEKERS, Anne-Marie
2012
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Orphanet journal of rare diseases, 2013-07, Vol.8 (1), p.110-110, Article 110
- Voigt, Claudia
- Mégarbané, André
- Neveling, Kornelia
- Czeschik, Johanna Christina
- Albrecht, Beate
- Callewaert, Bert
- von Deimling, Florian
- Hehr, Andreas
- Falkenberg Smeland, Marie
- König, Rainer
- Kuechler, Alma
- Marcelis, Carlo
- Puiu, Maria
- Reardon, Willie
- Riise Stensland, Hilde Monica Frostad
- Schweiger, Bernd
- Steehouwer, Marloes
- Teller, Christopher
- Martin, Marcel
- Rahmann, Sven
- Hehr, Ute
- Brunner, Han G
- Lüdecke, Hermann-Josef
- Wieczorek, Dagmar
2013
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American journal of human genetics, 2010-08, Vol.87 (2), p.309-309
- Daly, Sarah B.
- Urquhart, Jill E.
- Hilton, Emma
- McKenzie, Edward A.
- Kammerer, Richard A.
- Lewis, Malcolm
- Kerr, Bronwyn
- Stuart, Helen
- Donnai, Dian
- Long, David A.
- Burgu, Berk
- Aydogdu, Ozgu
- Derbent, Murat
- Garcia-Minaur, Sixto
- Reardon, Willie
- Gener, Blanca
- Shalev, Stavit
- Smith, Rupert
- Woolf, Adrian S.
- Black, Graeme C.
- Newman, William G.
2010
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Clinical dysmorphology, 2014-01, Vol.23 (1), p.26
2014
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American journal of medical genetics. Part A, 2008-09, Vol.146A (17), p.2252-2257
2008
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Journal of neurology, 2012-05, Vol.259 (5), p.974-976
2012
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American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.1977-1981
2012
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American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.3194-3203
2007
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