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International journal of molecular sciences, 2023-04, Vol.24 (8), p.7481
2023
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American journal of human genetics, 2007-04, Vol.80 (4), p.805-810
2007
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Brain (London, England : 1878), 2020-12, Vol.143 (12), p.3564-3573
- Mochel, Fanny
- Rastetter, Agnès
- Ceulemans, Berten
- Platzer, Konrad
- Yang, Sandra
- Shinde, Deepali N
- Helbig, Katherine L
- Lopergolo, Diego
- Mari, Francesca
- Renieri, Alessandra
- Benetti, Elisa
- Canitano, Roberto
- Waisfisz, Quinten
- Plomp, Astrid S
- Huisman, Sylvia A
- Wilson, Golder N
- Cathey, Sara S
- Louie, Raymond J
- Gaudio, Daniela Del
- Waggoner, Darrel
- Kacker, Shawn
- Nugent, Kimberly M
- Roeder, Elizabeth R
- Bruel, Ange-Line
- Thevenon, Julien
- Ehmke, Nadja
- Horn, Denise
- Holtgrewe, Manuel
- Kaiser, Frank J
- Kamphausen, Susanne B
- Abou Jamra, Rami
- Weckhuysen, Sarah
- Dalle, Carine
- Depienne, Christel
2020
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Genetics in medicine, 2019-10, Vol.21 (10), p.2355-2363
- Rahikkala, Elisa
- Myllykoski, Matti
- Hinttala, Reetta
- Vieira, Päivi
- Nayebzadeh, Naemeh
- Weiss, Simone
- Plomp, Astrid S
- Bittner, Reginald E
- Kurki, Mitja I
- Kuismin, Outi
- Lewis, Andrea M
- Väisänen, Marja-Leena
- Kokkonen, Hannaleena
- Westermann, Jonne
- Bernert, Günther
- Tuominen, Hannu
- Palotie, Aarno
- Aaltonen, Lauri
- Yang, Yaping
- Potocki, Lorraine
- Moilanen, Jukka
- van Koningsbruggen, Silvana
- Wang, Xia
- Schmidt, Wolfgang M
- Koivunen, Peppi
- Uusimaa, Johanna
2019
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American journal of medical genetics. Part A, 2010-04, Vol.152A (4), p.1049-1058
2010
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International journal of molecular sciences, 2021-06, Vol.22 (12), p.6419
- Reurink, Janine
- Dockery, Adrian
- Oziębło, Dominika
- Farrar, G. Jane
- Ołdak, Monika
- ten Brink, Jacoline B.
- Bergen, Arthur A.
- Rinne, Tuula
- Yntema, Helger G.
- Pennings, Ronald J. E.
- van den Born, L. Ingeborgh
- Aben, Marco
- Oostrik, Jaap
- Venselaar, Hanka
- Plomp, Astrid S.
- Khan, M. Imran
- van Wijk, Erwin
- Cremers, Frans P. M.
- Roosing, Susanne
- Kremer, Hannie
2021
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American journal of ophthalmology case reports, 2024-06, Vol.34, p.102070, Article 102070
2024
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Scientific reports, 2016-06, Vol.6 (1), p.28253-28253, Article 28253
- Buena-Atienza, Elena
- Rüther, Klaus
- Baumann, Britta
- Bergholz, Richard
- Birch, David
- De Baere, Elfride
- Dollfus, Helene
- Greally, Marie T
- Gustavsson, Peter
- Hamel, Christian P
- Heckenlively, John R
- Leroy, Bart P
- Plomp, Astrid S
- Pott, Jan Willem R
- Rose, Katherine
- Rosenberg, Thomas
- Stark, Zornitza
- Verheij, Joke B G M
- Weleber, Richard
- Zobor, Ditta
- Weisschuh, Nicole
- Kohl, Susanne
- Wissinger, Bernd
2016
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Human molecular genetics, 2007-07, Vol.16 (13), p.1587-1592
2007
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Nature genetics, 2000-06, Vol.25 (2), p.228-231
2000
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Bone Reports, 2021-06, Vol.14, p.101067, Article 101067
2021
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Human mutation, 2010-07, Vol.31 (7), p.830-839
2010
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Molecular genetics & genomic medicine, 2019-10, Vol.7 (10), p.e00943-n/a
2019
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Human molecular genetics, 2017-07, Vol.26 (13), p.2541-2550
2017
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Human mutation, 2022-11, Vol.43 (11), p.1609-1628
- Levy, Michael A.
- Relator, Raissa
- McConkey, Haley
- Pranckeviciene, Erinija
- Kerkhof, Jennifer
- Barat‐Houari, Mouna
- Bargiacchi, Sara
- Biamino, Elisa
- Palomares Bralo, María
- Cappuccio, Gerarda
- Ciolfi, Andrea
- Clarke, Angus
- DuPont, Barbara R.
- Elting, Mariet W.
- Faivre, Laurence
- Fee, Timothy
- Ferilli, Marco
- Fletcher, Robin S.
- Cherick, Florian
- Foroutan, Aidin
- Friez, Michael J.
- Gervasini, Cristina
- Haghshenas, Sadegheh
- Hilton, Benjamin A.
- Jenkins, Zandra
- Kaur, Simranpreet
- Lewis, Suzanne
- Louie, Raymond J.
- Maitz, Silvia
- Milani, Donatella
- Morgan, Angela T.
- Oegema, Renske
- Østergaard, Elsebet
- Pallares, Nathalie R.
- Piccione, Maria
- Plomp, Astrid S.
- Poulton, Cathryn
- Reilly, Jack
- Rius, Rocio
- Robertson, Stephen
- Rooney, Kathleen
- Rousseau, Justine
- Santen, Gijs W. E.
- Santos‐Simarro, Fernando
- Schijns, Josephine
- Squeo, Gabriella M.
- John, Miya St
- Thauvin‐Robinet, Christel
- Traficante, Giovanna
- Sluijs, Pleuntje J.
- Vergano, Samantha A.
- Vos, Niels
- Walden, Kellie K.
- Azmanov, Dimitar
- Balci, Tugce B.
- Banka, Siddharth
- Gecz, Jozef
- Henneman, Peter
- Lee, Jennifer A.
- Mannens, Marcel M. A. M.
- Roscioli, Tony
- Siu, Victoria
- Amor, David J.
- Baynam, Gareth
- Bend, Eric G.
- Boycott, Kym
- Brunetti‐Pierri, Nicola
- Campeau, Philippe M.
- Campion, Dominique
- Christodoulou, John
- Dyment, David
- Esber, Natacha
- Fahrner, Jill A.
- Fleming, Mark D.
- Genevieve, David
- Heron, Delphine
- Husson, Thomas
- Kernohan, Kristin D.
- McNeill, Alisdair
- Menke, Leonie A.
- Merla, Giuseppe
- Prontera, Paolo
- Rockman‐Greenberg, Cheryl
- Schwartz, Charles
- Skinner, Steven A.
- Stevenson, Roger E.
- Vincent, Marie
- Vitobello, Antonio
- Tartaglia, Marco
- Alders, Marielle
- Tedder, Matthew L.
- Sadikovic, Bekim
2022
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Investigative ophthalmology & visual science, 2018-07, Vol.59 (8), p.3220-3231
- Runhart, Esmee H
- Sangermano, Riccardo
- Cornelis, Stéphanie S
- Verheij, Joke B G M
- Plomp, Astrid S
- Boon, Camiel J F
- Lugtenberg, Dorien
- Roosing, Susanne
- Bax, Nathalie M
- Blokland, Ellen A W
- Jacobs-Camps, Marlie H M
- van der Velde-Visser, Saskia D
- Pott, Jan-Willem R
- Rohrschneider, Klaus
- Thiadens, Alberta A H J
- Klaver, Caroline C W
- van den Born, L Ingeborgh
- Hoyng, Carel B
- Cremers, Frans P M
2018
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European journal of human genetics : EJHG, 2024-05
2024
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European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.591-599
- Haer-Wigman, Lonneke
- van Zelst-Stams, Wendy Ag
- Pfundt, Rolph
- van den Born, L Ingeborgh
- Klaver, Caroline Cw
- Verheij, Joke Bgm
- Hoyng, Carel B
- Breuning, Martijn H
- Boon, Camiel Jf
- Kievit, Anneke J
- Verhoeven, Virginie Jm
- Pott, Jan Wr
- Sallevelt, Suzanne Ceh
- van Hagen, Johanna M
- Plomp, Astrid S
- Kroes, Hester Y
- Lelieveld, Stefan H
- Hehir-Kwa, Jayne Y
- Castelein, Steven
- Nelen, Marcel
- Scheffer, Hans
- Lugtenberg, Dorien
- Cremers, Frans Pm
- Hoefsloot, Lies
- Yntema, Helger G
2017
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Genetics in medicine, 2023-03, Vol.25 (3), p.100345-100345, Article 100345
- de Bruijn, Suzanne E.
- Rodenburg, Kim
- Corominas, Jordi
- Ben-Yosef, Tamar
- Reurink, Janine
- Kremer, Hannie
- Whelan, Laura
- Plomp, Astrid S.
- Berger, Wolfgang
- Farrar, G. Jane
- Ferenc Kovács, Árpád
- Fajardy, Isabelle
- Hitti-Malin, Rebekkah J.
- Weisschuh, Nicole
- Weener, Marianna E.
- Sharon, Dror
- Pennings, Ronald J.E.
- Haer-Wigman, Lonneke
- Hoyng, Carel B.
- Nelen, Marcel R.
- Vissers, Lisenka E.L.M.
- van den Born, L. Ingeborgh
- Gilissen, Christian
- Cremers, Frans P.M.
- Hoischen, Alexander
- Neveling, Kornelia
- Roosing, Susanne
2023
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European journal of human genetics : EJHG, 2017-02, Vol.25 (3), p.308-314
- Zazo Seco, Celia
- Wesdorp, Mieke
- Feenstra, Ilse
- Pfundt, Rolph
- Hehir-Kwa, Jayne Y
- Lelieveld, Stefan H
- Castelein, Steven
- Gilissen, Christian
- de Wijs, Ilse J
- Admiraal, Ronald Jc
- Pennings, Ronald Je
- Kunst, Henricus Pm
- van de Kamp, Jiddeke M
- Tamminga, Saskia
- Houweling, Arjan C
- Plomp, Astrid S
- Maas, Saskia M
- de Koning Gans, Pia Am
- Kant, Sarina G
- de Geus, Christa M
- Frints, Suzanna Gm
- Vanhoutte, Els K
- van Dooren, Marieke F
- van den Boogaard, Marie-José H
- Scheffer, Hans
- Nelen, Marcel
- Kremer, Hannie
- Hoefsloot, Lies
- Schraders, Margit
- Yntema, Helger G
2017
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American journal of human genetics, 2024-07
- Rots, Dmitrijs
- Bouman, Arianne
- Yamada, Ayumi
- Levy, Michael
- Dingemans, Alexander J.M.
- de Vries, Bert B.A.
- Ruiterkamp-Versteeg, Martina
- de Leeuw, Nicole
- Ockeloen, Charlotte W.
- Pfundt, Rolph
- de Boer, Elke
- Kummeling, Joost
- van Bon, Bregje
- van Bokhoven, Hans
- Kasri, Nael Nadif
- Venselaar, Hanka
- Alders, Marielle
- Kerkhof, Jennifer
- McConkey, Haley
- Kuechler, Alma
- Elffers, Bart
- van Beeck Calkoen, Rixje
- Hofman, Susanna
- Smith, Audrey
- Valenzuela, Maria Irene
- Srivastava, Siddharth
- Frazier, Zoe
- Maystadt, Isabelle
- Piscopo, Carmelo
- Merla, Giuseppe
- Balasubramanian, Meena
- Santen, Gijs W.E.
- Metcalfe, Kay
- Park, Soo-Mi
- Pasquier, Laurent
- Banka, Siddharth
- Donnai, Dian
- Weisberg, Daniel
- Strobl-Wildemann, Gertrud
- Wagemans, Annemieke
- Vreeburg, Maaike
- Baralle, Diana
- Foulds, Nicola
- Scurr, Ingrid
- Brunetti-Pierri, Nicola
- van Hagen, Johanna M.
- Bijlsma, Emilia K.
- Hakonen, Anna H.
- Courage, Carolina
- Genevieve, David
- Pinson, Lucile
- Forzano, Francesca
- Deshpande, Charu
- Kluskens, Maria L.
- Welling, Lindsey
- Plomp, Astrid S.
- Vanhoutte, Els K.
- Kalsner, Louisa
- Hol, Janna A.
- Putoux, Audrey
- Lazier, Johanna
- Vasudevan, Pradeep
- Ames, Elizabeth
- O'Shea, Jessica
- Lederer, Damien
- Fleischer, Julie
- O'Connor, Mary
- Pauly, Melissa
- Vasileiou, Georgia
- Reis, André
- Kiraly-Borri, Catherine
- Bouman, Arjan
- Barnett, Chris
- Nezarati, Marjan
- Borch, Lauren
- Beunders, Gea
- Özcan, Kübra
- Miot, Stéphanie
- Volker-Touw, Catharina M.L.
- van Gassen, Koen L.I.
- Cappuccio, Gerarda
- Janssens, Katrien
- Mor, Nofar
- Shomer, Inna
- Dominissini, Dan
- Tedder, Matthew L.
- Muir, Alison M.
- Sadikovic, Bekim
- Brunner, Han G.
- Vissers, Lisenka E.L.M.
- Shinkai, Yoichi
- Kleefstra, Tjitske
2024
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Human mutation, 2017-11, Vol.38 (11), p.1542-1554
2017
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European journal of human genetics : EJHG, 2022-03, Vol.30 (3), p.271-281
- Dingemans, Alexander J M
- Truijen, Kim M G
- Kim, Jung-Hyun
- Alaçam, Zahide
- Faivre, Laurence
- Collins, Kathleen M
- Gerkes, Erica H
- van Haelst, Mieke
- van de Laar, Ingrid M B H
- Lindstrom, Kristin
- Nizon, Mathilde
- Pauling, James
- Heropolitańska-Pliszka, Edyta
- Plomp, Astrid S
- Racine, Caroline
- Sachdev, Rani
- Sinnema, Margje
- Skranes, Jon
- Veenstra-Knol, Hermine E
- Verberne, Eline A
- Vulto-van Silfhout, Anneke T
- Wilsterman, Marlon E F
- Ahn, Eun-Young Erin
- de Vries, Bert B A
- Vissers, Lisenka E L M
2022
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Investigative ophthalmology & visual science, 2019-03, Vol.60 (4), p.1192-1203
- Verbakel, Sanne K
- van Huet, Ramon A C
- den Hollander, Anneke I
- Geerlings, Maartje J
- Kersten, Eveline
- Klevering, B Jeroen
- Klaver, Caroline C W
- Plomp, Astrid S
- Wesseling, Nieneke L
- Bergen, Arthur A B
- Nikopoulos, Konstantinos
- Rivolta, Carlo
- Ikeda, Yasuhiro
- Sonoda, Koh-Hei
- Wada, Yuko
- Boon, Camiel J F
- Nakazawa, Toru
- Hoyng, Carel B
- Nishiguchi, Koji M
2019
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Human mutation, 2013-05, Vol.34 (5), p.686-696
- Handley, Mark T.
- Morris-Rosendahl, Deborah J.
- Brown, Stephen
- Macdonald, Fiona
- Hardy, Carol
- Bem, Danai
- Carpanini, Sarah M.
- Borck, Guntram
- Martorell, Loreto
- Izzi, Claudia
- Faravelli, Francesca
- Accorsi, Patrizia
- Pinelli, Lorenzo
- Basel-Vanagaite, Lina
- Peretz, Gabriela
- Abdel-Salam, Ghada M.H.
- Zaki, Maha S.
- Jansen, Anna
- Mowat, David
- Glass, Ian
- Stewart, Helen
- Mancini, Grazia
- Lederer, Damien
- Roscioli, Tony
- Giuliano, Fabienne
- Plomp, Astrid S.
- Rolfs, Arndt
- Graham, John M.
- Seemanova, Eva
- Poo, Pilar
- García-Cazorla, Àngels
- Edery, Patrick
- Jackson, Ian J.
- Maher, Eamonn R.
- Aligianis, Irene A.
2013
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