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Journal of medical genetics, 2009-09, Vol.46 (9), p.598-606
- Kleefstra, T
- van Zelst-Stams, W A
- Nillesen, W M
- Cormier-Daire, V
- Houge, G
- Foulds, N
- van Dooren, M
- Willemsen, M H
- Pfundt, R
- Turner, A
- Wilson, M
- McGaughran, J
- Rauch, A
- Zenker, M
- Adam, M P
- Innes, M
- Davies, C
- López, A González-Meneses
- Casalone, R
- Weber, A
- Brueton, L A
- Navarro, A Delicado
- Bralo, M Palomares
- Venselaar, H
- Stegmann, S P A
- Yntema, H G
- van Bokhoven, H
- Brunner, H G
2009
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European journal of pediatrics, 2023-06, Vol.182 (6), p.2683-2692
- Olde Keizer, Richelle A. C. M.
- Marouane, Abderrahim
- Kerstjens-Frederikse, Wilhelmina S.
- Deden, A. Chantal
- Lichtenbelt, Klaske D.
- Jonckers, Tinneke
- Vervoorn, Marieke
- Vreeburg, Maaike
- Henneman, Lidewij
- de Vries, Linda S.
- Sinke, Richard J.
- Pfundt, Rolph
- Stevens, Servi J. C.
- Andriessen, Peter
- van Lingen, Richard A.
- Nelen, Marcel
- Scheffer, Hans
- Stemkens, Daphne
- Oosterwijk, Cor
- van Amstel, Hans Kristian Ploos
- de Boode, Willem P.
- van Zelst-Stams, Wendy A. G.
- Frederix, Geert W. J.
- Vissers, Lisenka E. L. M.
2023
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Circulation (New York, N.Y.), 2020-08, Vol.142 (7), p.708-710, Article CIRCULATIONAHA.120.047911
2020
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PLoS genetics, 2017-10, Vol.13 (10), p.e1006864-e1006864
- Koemans, Tom S
- Kleefstra, Tjitske
- Chubak, Melissa C
- Stone, Max H
- Reijnders, Margot R F
- de Munnik, Sonja
- Willemsen, Marjolein H
- Fenckova, Michaela
- Stumpel, Connie T R M
- Bok, Levinus A
- Sifuentes Saenz, Margarita
- Byerly, Kyna A
- Baughn, Linda B
- Stegmann, Alexander P A
- Pfundt, Rolph
- Zhou, Huiqing
- van Bokhoven, Hans
- Schenck, Annette
- Kramer, Jamie M
- FitzPatrick, David R.
2017
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The Astrophysical journal, 2014-01, Vol.780 (2), p.1-14
2014
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Human reproduction (Oxford), 2016-09, Vol.31 (9), p.1997-2004
2016
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Molecular cell, 2015-01, Vol.57 (1), p.39-54
2015
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Nature communications, 2022-11, Vol.13 (1), p.6570-6570, Article 6570
- Leitão, Elsa
- Schröder, Christopher
- Parenti, Ilaria
- Dalle, Carine
- Rastetter, Agnès
- Kühnel, Theresa
- Kuechler, Alma
- Kaya, Sabine
- Gérard, Bénédicte
- Schaefer, Elise
- Nava, Caroline
- Drouot, Nathalie
- Engel, Camille
- Piard, Juliette
- Duban-Bedu, Bénédicte
- Villard, Laurent
- Stegmann, Alexander P A
- Vanhoutte, Els K
- Verdonschot, Job A J
- Kaiser, Frank J
- Tran Mau-Them, Frédéric
- Scala, Marcello
- Striano, Pasquale
- Frints, Suzanna G M
- Argilli, Emanuela
- Sherr, Elliott H
- Elder, Fikret
- Buratti, Julien
- Keren, Boris
- Mignot, Cyril
- Héron, Delphine
- Mandel, Jean-Louis
- Gecz, Jozef
- Kalscheuer, Vera M
- Horsthemke, Bernhard
- Piton, Amélie
- Depienne, Christel
2022
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International journal of cancer, 2015-03, Vol.136 (5), p.E207-E218
- Olthof, Nadine C.
- Huebbers, Christian U.
- Kolligs, Jutta
- Henfling, Mieke
- Ramaekers, Frans C.S.
- Cornet, Iris
- Lent‐Albrechts, Josefa A.
- Stegmann, Alexander P.A.
- Silling, Steffi
- Wieland, Ulrike
- Carey, Thomas E.
- Walline, Heather M.
- Gollin, Susanne M.
- Hoffmann, Thomas K.
- Winter, Johan
- Kremer, Bernd
- Klussmann, Jens P.
- Speel, Ernst‐Jan M.
2015
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PloS one, 2019-10, Vol.14 (10), p.e0223880-e0223880
2019
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Nature communications, 2022-11, Vol.13 (1), p.6664-6664, Article 6664
- Grange, Laura J
- Reynolds, John J
- Ullah, Farid
- Isidor, Bertrand
- Shearer, Robert F
- Latypova, Xenia
- Baxley, Ryan M
- Oliver, Antony W
- Ganesh, Anil
- Cooke, Sophie L
- Jhujh, Satpal S
- McNee, Gavin S
- Hollingworth, Robert
- Higgs, Martin R
- Natsume, Toyoaki
- Khan, Tahir
- Martos-Moreno, Gabriel Á
- Chupp, Sharon
- Mathew, Christopher G
- Parry, David
- Simpson, Michael A
- Nahavandi, Nahid
- Yüksel, Zafer
- Drasdo, Mojgan
- Kron, Anja
- Vogt, Petra
- Jonasson, Annemarie
- Seth, Saad Ahmed
- Gonzaga-Jauregui, Claudia
- Brigatti, Karlla W
- Stegmann, Alexander P A
- Kanemaki, Masato
- Josifova, Dragana
- Uchiyama, Yuri
- Oh, Yukiko
- Morimoto, Akira
- Osaka, Hitoshi
- Ammous, Zineb
- Argente, Jesús
- Matsumoto, Naomichi
- Stumpel, Constance T R M
- Taylor, Alexander M R
- Jackson, Andrew P
- Bielinsky, Anja-Katrin
- Mailand, Niels
- Le Caignec, Cedric
- Davis, Erica E
- Stewart, Grant S
2022
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Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.1-294, Article 294
2020
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American journal of human genetics, 2013-12, Vol.93 (6), p.1135-1142
2013
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Nature neuroscience, 2016-09, Vol.19 (9), p.1194
- Lelieveld, Stefan H
- Reijnders, Margot R F
- Pfundt, Rolph
- Yntema, Helger G
- Kamsteeg, Erik-Jan
- de Vries, Petra
- de Vries, Bert B A
- Willemsen, Marjolein H
- Kleefstra, Tjitske
- Löhner, Katharina
- Vreeburg, Maaike
- Stevens, Servi J C
- van der Burgt, Ineke
- Bongers, Ernie M H F
- Stegmann, Alexander P A
- Rump, Patrick
- Rinne, Tuula
- Nelen, Marcel R
- Veltman, Joris A
- Vissers, Lisenka E L M
- Brunner, Han G
- Gilissen, Christian
2016
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eLife, 2022-12, Vol.11
2022
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Human genetics, 2017-07, Vol.136 (7), p.821-834
- Bramswig, Nuria C.
- Lüdecke, Hermann-Josef
- Hamdan, Fadi F.
- Altmüller, Janine
- Beleggia, Filippo
- Elcioglu, Nursel H.
- Freyer, Catharine
- Gerkes, Erica H.
- Demirkol, Yasemin Kendir
- Knupp, Kelly G.
- Kuechler, Alma
- Li, Yun
- Lowenstein, Daniel H.
- Michaud, Jacques L.
- Park, Kristen
- Stegmann, Alexander P.A.
- Veenstra-Knol, Hermine E.
- Wieland, Thomas
- Wollnik, Bernd
- Engels, Hartmut
- Strom, Tim M.
- Kleefstra, Tjitske
- Wieczorek, Dagmar
2017
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Nature communications, 2017-10, Vol.8 (1), p.1052-12, Article 1052
2017
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Genetics in medicine, 2017-06, Vol.19 (6), p.667-675
- Pfundt, Rolph
- Del Rosario, Marisol
- Vissers, Lisenka E L M
- Kwint, Michael P
- Janssen, Irene M
- de Leeuw, Nicole
- Yntema, Helger G
- Nelen, Marcel R
- Lugtenberg, Dorien
- Kamsteeg, Erik-Jan
- Wieskamp, Nienke
- Stegmann, Alexander P A
- Stevens, Servi J C
- Rodenburg, Richard J T
- Simons, Annet
- Mensenkamp, Arjen R
- Rinne, Tuula
- Gilissen, Christian
- Scheffer, Hans
- Veltman, Prof Dr, Joris A
- Hehir-Kwa, Jayne Y
2017
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Nature (London), 2022-12, Vol.612 (7939), p.272-276
2022
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Genetics in medicine, 2021-06, Vol.23 (6), p.1125-1136
2021
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Clinical cancer research, 2012-05, Vol.18 (10), p.2828-2837
- BURNICHON, Nelly
- CASCON, Alberto
- DE QUIROS, Sandra Bernaldo
- BERTHERAT, Jerome
- BIGNON, Yves-Jean
- BLOK, Marinus J
- BOBISSE, Sara
- BORREGO, Salud
- CASTELLANO, Maurizio
- CHANSON, Philippe
- CHIARA, Maria-Dolores
- CORSSMIT, Eleonora P. M
- SCHIAVI, Francesca
- GIACCHE, Mara
- DE KRIJGER, Ronald R
- ERCOLINO, Tonino
- GIRERD, Xavier
- GOMEZ-GARCIA, Encarna B
- GOMEZ-GRANA, Alvaro
- GUILHEM, Isabelle
- HES, Frederik J
- HONRADO, Emiliano
- KORPERSHOEK, Esther
- PAES MORALES, Nicole
- LENDERS, Jacques W. M
- LETON, Rocio
- MENSENKAMP, Arjen R
- MERLO, Anna
- MORI, Luigi
- MURAT, Arnaud
- PIERRE, Peggy
- PLOUIN, Pierre-François
- PRODANOV, Tamara
- QUESADA-CHARNECO, Miguel
- COMINO-MENDEZ, Iñaki
- NANQIN
- RAPIZZI, Elena
- RAYMOND, Victoria
- REISCH, Nicole
- RONCADOR, Giovanna
- RUIZ-FERRER, Macarena
- SCHILLO, Frank
- STEGMANN, Alexander P. A
- SUAREZ, Carlos
- TASCHIN, Elisa
- ABERMIL, Nasséra
- TIMMERS, Henri J. L. M
- TOPS, Carli M. J
- URIOSTE, Miguel
- BEUSCHLEIN, Felix
- PACAK, Karel
- MANNELLI, Massimo
- DAHIA, Patricia L. M
- OPOCHER, Giuseppe
- EISENHOFER, Graeme
- GIMENEZ-ROQUEPLO, Anne-Paule
- INGLADA-PEREZ, Lucia
- DE CUBAS, Aguirre A
- AMAR, Laurence
- BARONTINI, Marta
2012
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Annals of neurology, 2018-11, Vol.84 (5), p.788-795
- Mulhern, Maureen S.
- Stumpel, Constance
- Stong, Nicholas
- Brunner, Han G.
- Bier, Louise
- Lippa, Natalie
- Riviello, James
- Rouhl, Rob P. W.
- Kempers, Marlies
- Pfundt, Rolph
- Stegmann, Alexander P. A.
- Kukolich, Mary K.
- Telegrafi, Aida
- Lehman, Anna
- Lopez‐Rangel, Elena
- Houcinat, Nada
- Barth, Magalie
- den Hollander, Nicolette
- Hoffer, Mariette J. V.
- Weckhuysen, Sarah
- Roovers, Jolien
- Djemie, Tania
- Barca, Diana
- Ceulemans, Berten
- Craiu, Dana
- Lemke, Johannes R.
- Korff, Christian
- Mefford, Heather C.
- Meyers, Candace T.
- Siegler, Zsuzsanna
- Hiatt, Susan M.
- Cooper, Gregory M.
- Bebin, E. Martina
- Snijders Blok, Lot
- Veenstra‐Knol, Hermine E.
- Baugh, Evan H.
- Brilstra, Eva H.
- Volker‐Touw, Catharina M. L.
- van Binsbergen, Ellen
- Revah‐Politi, Anya
- Pereira, Elaine
- McBrian, Danielle
- Pacault, Mathilde
- Isidor, Bertrand
- Le Caignec, Cedric
- Gilbert‐Dussardier, Brigitte
- Bilan, Frederic
- Heinzen, Erin L.
- Goldstein, David B.
- Stevens, Servi J. C.
- Sands, Tristan T.
2018
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Physical review letters, 2022-02, Vol.128 (8), p.087701-087701, Article 087701
2022
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Journal of intellectual disability research, 2024-01, Vol.68 (1), p.45-52
2024
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European journal of cancer care, 2019-05, Vol.28 (3), p.e13086-n/a
2019
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