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European journal of human genetics : EJHG, 2018-02, Vol.26 (2), p.166-175
2018
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Biochimica et biophysica acta, 2012-12, Vol.1822 (12), p.1951-1959
2012
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Prenatal diagnosis, 2020-07, Vol.40 (8), p.972-983
- Deden, Chantal
- Neveling, Kornelia
- Zafeiropopoulou, Dimitra
- Gilissen, Christian
- Pfundt, Rolph
- Rinne, Tuula
- Leeuw, Nicole
- Faas, Brigitte
- Gardeitchik, Thatjana
- Sallevelt, Suzanne C. E. H.
- Paulussen, Aimee
- Stevens, Servi J. C.
- Sikkel, Esther
- Elting, Mariet W.
- Maarle, Merel C.
- Diderich, Karin E. M.
- Corsten‐Janssen, Nicole
- Lichtenbelt, Klaske D.
- Lachmeijer, Guus
- Vissers, Lisenka E. L. M.
- Yntema, Helger G.
- Nelen, Marcel
- Feenstra, Ilse
- Zelst‐Stams, Wendy A. G.
2020
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Journal of bone and mineral research, 2023-12, Vol.38 (12), p.1822-1833
2023
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Prenatal diagnosis, 2016-12, Vol.36 (12), p.1091-1098
2016
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Genetics in medicine, 2018-05, Vol.20 (5), p.480-485
- Van Opstal, Diane
- van Maarle, Merel C
- Lichtenbelt, Klaske
- Weiss, Marjan M
- Schuring-Blom, Heleen
- Bhola, Shama L
- Hoffer, Mariette J V
- Huijsdens-van Amsterdam, Karin
- Macville, Merryn V
- Kooper, Angelique J A
- Faas, Brigitte H W
- Govaerts, Lutgarde
- Tan-Sindhunata, Gita M
- den Hollander, Nicolette
- Feenstra, Ilse
- Galjaard, Robert-Jan H
- Oepkes, Dick
- Ghesquiere, Stijn
- Brouwer, Rutger W W
- Beulen, Lean
- Bollen, Sander
- Elferink, Martin G
- Straver, Roy
- Henneman, Lidewij
- Page-Christiaens, Godelieve C
- Sistermans, Erik A
2018
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Prenatal diagnosis, 2021-12, Vol.41 (13), p.1685-1693
2021
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Genes & development, 2018-03, Vol.32 (5-6), p.373-388
- Ferrer, Christina M
- Alders, Marielle
- Postma, Alex V
- Park, Seonmi
- Klein, Mark A
- Cetinbas, Murat
- Pajkrt, Eva
- Glas, Astrid
- van Koningsbruggen, Silvana
- Christoffels, Vincent M
- Mannens, Marcel M A M
- Knegt, Lia
- Etchegaray, Jean-Pierre
- Sadreyev, Ruslan I
- Denu, John M
- Mostoslavsky, Gustavo
- van Maarle, Merel C
- Mostoslavsky, Raul
2018
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Journal of clinical oncology, 2022-08, Vol.40 (22), p.JCO2102260-2435
- Heesterbeek, Catharina J
- Aukema, Sietse M
- Galjaard, Robert-Jan H
- Boon, Elles M J
- Srebniak, Malgorzata I
- Bouman, Katelijne
- Faas, Brigitte H W
- Govaerts, Lutgarde C P
- Hoffer, Mariëtte J V
- den Hollander, Nicolette S
- Lichtenbelt, Klaske D
- van Maarle, Merel C
- van Prooyen Schuurman, Lisanne
- van Rij, Maartje C
- Schuring-Blom, G Heleen
- Stevens, Servi J C
- Tan-Sindhunata, Gita
- Zamani Esteki, Masoud
- de Die-Smulders, Christine E M
- Tjan-Heijnen, Vivianne C G
- Henneman, Lidewij
- Sistermans, Erik A
- Macville, Merryn V E
2022
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European journal of public health, 2017-04, Vol.27 (2), p.372-377
2017
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Journal of clinical lipidology, 2023-03, Vol.17 (2), p.291-296
2023
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Journal of medical genetics, 2013-05, Vol.50 (5), p.309-323
- Schmidts, Miriam
- Arts, Heleen H
- Bongers, Ernie M H F
- Yap, Zhimin
- Oud, Machteld M
- Antony, Dinu
- Duijkers, Lonneke
- Emes, Richard D
- Stalker, Jim
- Yntema, Jan-Bart L
- Plagnol, Vincent
- Hoischen, Alexander
- Gilissen, Christian
- Forsythe, Elisabeth
- Lausch, Ekkehart
- Veltman, Joris A
- Roeleveld, Nel
- Superti-Furga, Andrea
- Kutkowska-Kazmierczak, Anna
- Kamsteeg, Erik-Jan
- Elçioğlu, Nursel
- van Maarle, Merel C
- Graul-Neumann, Luitgard M
- Devriendt, Koenraad
- Smithson, Sarah F
- Wellesley, Diana
- Verbeek, Nienke E
- Hennekam, Raoul C M
- Kayserili, Hulya
- Scambler, Peter J
- Beales, Philip L
- Knoers, Nine VAM
- Roepman, Ronald
- Mitchison, Hannah M
2013
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Journal of genetic counseling, 2017-12, Vol.26 (6), p.1348-1356
2017
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European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.171-177
2016
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Genetics in medicine, 2018-11, Vol.20 (11), p.1472-1476
2018
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Amyotrophic lateral sclerosis and frontotemporal degeneration, 2015-08, Vol.16 (5-6), p.410-411
2015
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Journal of medical genetics, 2010-03, Vol.47 (3), p.169-175
2010
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Human mutation, 2012-08, Vol.33 (8), p.1261-1266
- Nizon, Mathilde
- Huber, Céline
- De Leonardis, Fabio
- Merrina, Rodolphe
- Forlino, Antonella
- Fradin, Mélanie
- Tuysuz, Beyhan
- Abu-Libdeh, Bassam Y.
- Alanay, Yasemin
- Albrecht, Beate
- Al-Gazali, Lihadh
- Basaran, Sarenur Yilmaz
- Clayton-Smith, Jill
- Désir, Julie
- Gill, Harinder
- Greally, Marie T.
- Koparir, Erkan
- van Maarle, Merel C
- MacKay, Sara
- Mortier, Geert
- Morton, Jenny
- Sillence, David
- Vilain, Catheline
- Young, Ian
- Zerres, Klaus
- Le Merrer, Martine
- Munnich, Arnold
- Le Goff, Carine
- Rossi, Antonio
- Cormier-Daire, Valérie
2012
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European journal of medical genetics, 2015-03, Vol.58 (3), p.123-128
2015
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European journal of medical genetics, 2015-01, Vol.58 (1), p.28-30
2015
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European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.999-1005
- Paulussen, Aimée D C
- Schrander-Stumpel, Constance T
- Tserpelis, Demis C J
- Spee, Matteus K M
- Stegmann, Alexander P A
- Mancini, Grazia M
- Brooks, Alice S
- Collée, Margriet
- Maat-Kievit, Anneke
- Simon, Marleen E H
- van Bever, Yolande
- Stolte-Dijkstra, Irene
- Kerstjens-Frederikse, Wilhelmina S
- Herkert, Johanna C
- van Essen, Anthonie J
- Lichtenbelt, Klaske D
- van Haeringen, Arie
- Kwee, Mei L
- Lachmeijer, Augusta M A
- Tan-Sindhunata, Gita M B
- van Maarle, Merel C
- Arens, Yvonne H J M
- Smeets, Eric E J G L
- de Die-Smulders, Christine E
- Engelen, John J M
- Smeets, Hubertus J
- Herbergs, Jos
2010
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Journal of community genetics, 2017-10, Vol.8 (4), p.327-333
2017
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Oral surgery, oral medicine, oral pathology, oral radiology and endodontics, 2007-03, Vol.103 (3), p.378-381
2007
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American journal of human genetics, 2019-12, Vol.105 (6), p.1091-1101
- van der Meij, Karuna R.M.
- Sistermans, Erik A.
- Macville, Merryn V.E.
- Stevens, Servi J.C.
- Bax, Caroline J.
- Bekker, Mireille N.
- Bilardo, Caterina M.
- Boon, Elles M.J.
- Boter, Marjan
- Diderich, Karin E.M.
- de Die-Smulders, Christine E.M.
- Duin, Leonie K.
- Faas, Brigitte H.W.
- Feenstra, Ilse
- Haak, Monique C.
- Hoffer, Mariëtte J.V.
- den Hollander, Nicolette S.
- Hollink, Iris H.I.M.
- Jehee, Fernanda S.
- Knapen, Maarten F.C.M.
- Kooper, Angelique J.A.
- van Langen, Irene M.
- Lichtenbelt, Klaske D.
- Linskens, Ingeborg H.
- van Maarle, Merel C.
- Oepkes, Dick
- Pieters, Mijntje J.
- Schuring-Blom, G. Heleen
- Sikkel, Esther
- Sikkema-Raddatz, Birgit
- Smeets, Dominique F.C.M.
- Srebniak, Malgorzata I.
- Suijkerbuijk, Ron F.
- Tan-Sindhunata, Gita M.
- van der Ven, A. Jeanine E.M.
- van Zelderen-Bhola, Shama L.
- Henneman, Lidewij
- Galjaard, Robert-Jan H.
- Van Opstal, Diane
- Weiss, Marjan M.
2019
Link zum Volltext
American journal of human genetics, 2022-06, Vol.109 (6), p.1140-1152
- van Prooyen Schuurman, Lisanne
- Sistermans, Erik A.
- Van Opstal, Diane
- Henneman, Lidewij
- Bekker, Mireille N.
- Bax, Caroline J.
- Pieters, Mijntje J.
- Bouman, Katelijne
- de Munnik, Sonja
- den Hollander, Nicolette S.
- Diderich, Karin E.M.
- Faas, Brigitte H.W.
- Feenstra, Ilse
- Go, Attie T.J.I.
- Hoffer, Mariëtte J.V.
- Joosten, Marieke
- Komdeur, Fenne L.
- Lichtenbelt, Klaske D.
- Lombardi, Maria P.
- Polak, Marike G.
- Jehee, Fernanda S.
- Schuring-Blom, Heleen
- Stevens, Servi J.C.
- Srebniak, Malgorzata I.
- Suijkerbuijk, Ron F.
- Tan-Sindhunata, Gita M.
- van der Meij, Karuna R.M.
- van Maarle, Merel C.
- Vernimmen, Vivian
- van Zelderen-Bhola, Shama L.
- van Ravesteyn, Nicolien T.
- Knapen, Maarten F.C.M.
- Macville, Merryn V.E.
- Galjaard, Robert-Jan H.
2022
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