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Stem cell research, 2024-06, Vol.77, p.103442, Article 103442
2024
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iScience, 2023-03, Vol.26 (3), p.106199-106199, Article 106199
2023
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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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PloS one, 2012-04, Vol.7 (4), p.e31327-e31327
- van Eerde, Albertien M
- Duran, Karen
- van Riel, Els
- de Kovel, Carolien G F
- Koeleman, Bobby P C
- Knoers, Nine V A M
- Renkema, Kirsten Y
- van der Horst, Henricus J R
- Bökenkamp, Arend
- van Hagen, Johanna M
- van den Berg, Leonard H
- Wolffenbuttel, Katja P
- van den Hoek, Joop
- Feitz, Wouter F
- de Jong, Tom P V M
- Giltay, Jacques C
- Wijmenga, Cisca
- Toland, Amanda Ewart
2012
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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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Human mutation, 2018-09, Vol.39 (9), p.1173-1192
- Overwater, Eline
- Marsili, Luisa
- Baars, Marieke J.H.
- Baas, Annette F.
- de Beek, Irma
- Dulfer, Eelco
- Hagen, Johanna M.
- Hilhorst‐Hofstee, Yvonne
- Kempers, Marlies
- Krapels, Ingrid P.
- Menke, Leonie A.
- Verhagen, Judith M.A.
- Yeung, Kak K.
- Zwijnenburg, Petra J.G.
- Groenink, Maarten
- Rijn, Peter
- Weiss, Marjan M.
- Voorhoeve, Els
- Tintelen, J. Peter
- Houweling, Arjan C.
- Maugeri, Alessandra
2018
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Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
- Li, Lin
- Ghorbani, Mohammad
- Weisz-Hubshman, Monika
- Rousseau, Justine
- Thiffault, Isabelle
- Schnur, Rhonda E
- Breen, Catherine
- Oegema, Renske
- Weiss, Marjan Mm
- Waisfisz, Quinten
- Welner, Sara
- Kingston, Helen
- Hills, Jordan A
- Boon, Elles Mj
- Basel-Salmon, Lina
- Konen, Osnat
- Goldberg-Stern, Hadassa
- Bazak, Lily
- Tzur, Shay
- Jin, Jianliang
- Bi, Xiuli
- Bruccoleri, Michael
- McWalter, Kirsty
- Cho, Megan T
- Scarano, Maria
- Schaefer, G Bradley
- Brooks, Susan S
- Hughes, Susan Starling
- van Gassen, K L I
- van Hagen, Johanna M
- Pandita, Tej K
- Agrawal, Pankaj B
- Campeau, Philippe M
- Yang, Xiang-Jiao
2020
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Clinical genetics, 2024-06, Vol.105 (6), p.655-660
- Rots, Dmitrijs
- Rooney, Kathleen
- Relator, Raissa
- Kerkhof, Jennifer
- McConkey, Haley
- Pfundt, Rolph
- Marcelis, Carlo
- Willemsen, Marjolein H.
- Hagen, Johanna M.
- Zwijnenburg, Petra
- Alders, Marielle
- Õunap, Katrin
- Reimand, Tiia
- Fjodorova, Olga
- Berland, Siren
- Liahjell, Eva Benedicte
- Bojovic, Ognjen
- Kriek, Marjolein
- Ruivenkamp, Claudia
- Bonati, Maria Teresa
- Brunner, Han G.
- Vissers, Lisenka E. L. M.
- Sadikovic, Bekim
- Kleefstra, Tjitske
2024
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Journal of medical genetics, 2016-01, Vol.53 (1), p.43-52
- de Kock, Leanne
- Wang, Yu Chang
- Revil, Timothée
- Badescu, Dunarel
- Rivera, Barbara
- Sabbaghian, Nelly
- Wu, Mona
- Weber, Evan
- Sandoval, Claudio
- Hopman, Saskia M J
- Merks, Johannes H M
- van Hagen, Johanna M
- Bouts, Antonia H M
- Plager, David A
- Ramasubramanian, Aparna
- Forsmark, Linus
- Doyle, Kristine L
- Toler, Tonja
- Callahan, Janine
- Engelenberg, Charlotte
- Bouron-Dal Soglio, Dorothée
- Priest, John R
- Ragoussis, Jiannis
- Foulkes, William D
2016
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Genetics in medicine, 2024-07, Vol.26 (7), p.101126, Article 101126
- Lavillaureix, Alinoë
- Rollier, Paul
- Kim, Artem
- Panasenkava, Veranika
- De Tayrac, Marie
- Carré, Wilfrid
- Guyodo, Hélène
- Faoucher, Marie
- Poirel, Elisabeth
- Akloul, Linda
- Quélin, Chloé
- Whalen, Sandra
- Bos, Jessica
- Broekema, Marjoleine
- van Hagen, Johanna M.
- Grand, Katheryn
- Allen-Sharpley, Michelle
- Magness, Emily
- McLean, Scott D.
- Kayserili, Hülya
- Altunoglu, Umut
- En Qi Chong, Angie
- Xue, Shifeng
- Jeanne, Médéric
- Almontashiri, Naif
- Habhab, Wisam
- Vanlerberghe, Clemence
- Faivre, Laurence
- Viora-Dupont, Eléonore
- Philippe, Christophe
- Safraou, Hana
- Laffargue, Fanny
- Mittendorf, Luisa
- Abou Jamra, Rami
- Patil, Siddaramappa Jagdish
- Dalal, Ashwin
- Sarma, Asodu Sandeep
- Keren, Boris
- Reversade, Bruno
- Dubourg, Christèle
- Odent, Sylvie
- Dupé, Valérie
2024
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Clinical genetics, 2020-06, Vol.97 (6), p.902-907
2020
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European journal of medical genetics, 2015-05, Vol.58 (5), p.279-292
- Maas, Saskia M
- Shaw, Adam C
- Bikker, Hennie
- Lüdecke, Hermann-Josef
- van der Tuin, Karin
- Badura-Stronka, Magdalena
- Belligni, Elga
- Biamino, Elisa
- Bonati, Maria Teresa
- Carvalho, Daniel R
- Cobben, JanMaarten
- de Man, Stella A
- Den Hollander, Nicolette S
- Di Donato, Nataliya
- Garavelli, Livia
- Grønborg, Sabine
- Herkert, Johanna C
- Hoogeboom, A. Jeannette M
- Jamsheer, Aleksander
- Latos-Bielenska, Anna
- Maat-Kievit, Anneke
- Magnani, Cinzia
- Marcelis, Carlo
- Mathijssen, Inge B
- Nielsen, Maartje
- Otten, Ellen
- Ousager, Lilian B
- Pilch, Jacek
- Plomp, Astrid
- Poke, Gemma
- Poluha, Anna
- Posmyk, Renata
- Rieubland, Claudine
- Silengo, Margharita
- Simon, Marleen
- Steichen, Elisabeth
- Stumpel, Connie
- Szakszon, Katalin
- Polonkai, Edit
- van den Ende, Jenneke
- van der Steen, Antony
- van Essen, Ton
- van Haeringen, Arie
- van Hagen, Johanna M
- Verheij, Joke B.G.M
- Mannens, Marcel M
- Hennekam, Raoul C
2015
Link zum Volltext
American journal of human genetics, 2021-12, Vol.108 (12), p.2385-2385
- Ghosh, Shereen G
- Becker, Kerstin
- Huang, He
- Salazar, Tracy D
- Chai, Guoliang
- Salpietro, Vincenzo
- Al-Gazali, Lihadh
- Waisfisz, Quinten
- Wang, Haicui
- Vaux, Keith K
- Stanley, Valentina
- Manole, Andreea
- Akpulat, Ugur
- Weiss, Marjan M
- Efthymiou, Stephanie
- Hanna, Michael G
- Minetti, Carlo
- Striano, Pasquale
- Pisciotta, Livia
- De Grandis, Elisa
- Altmüller, Janine
- Weixler, Lisa
- Nürnberg, Peter
- Thiele, Holger
- Yis, Uluc
- Okur, Tuncay Derya
- Polat, Ayse Ipek
- Amiri, Nafise
- Doosti, Mohammad
- Karimani, Ehsan Ghayoor
- Toosi, Mehran B
- Haddad, Gabriel
- Karakaya, Mert
- Wirth, Brunhilde
- van Hagen, Johanna M
- Wolf, Nicole I
- Maroofian, Reza
- Houlden, Henry
- Cirak, Sebahattin
- Gleeson, Joseph G
2021
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Translational psychiatry, 2022-10, Vol.12 (1), p.421-421, Article 421
- Dingemans, Alexander J. M.
- Truijen, Kim M. G.
- van de Ven, Sam
- Bernier, Raphael
- Bongers, Ernie M. H. F.
- Bouman, Arjan
- de Graaff – Herder, Laura
- Eichler, Evan E.
- Gerkes, Erica H.
- De Geus, Christa M.
- van Hagen, Johanna M.
- Jansen, Philip R.
- Kerkhof, Jennifer
- Kievit, Anneke J. A.
- Kleefstra, Tjitske
- Maas, Saskia M.
- de Man, Stella A.
- McConkey, Haley
- Patterson, Wesley G.
- Dobson, Amy T.
- Prijoles, Eloise J.
- Sadikovic, Bekim
- Relator, Raissa
- Stevenson, Roger E.
- Stumpel, Connie T. R. M.
- Heijligers, Malou
- Stuurman, Kyra E.
- Löhner, Katharina
- Zeidler, Shimriet
- Lee, Jennifer A.
- Lindy, Amanda
- Zou, Fanggeng
- Tedder, Matthew L.
- Vissers, Lisenka E. L. M.
- de Vries, Bert B. A.
2022
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American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.1972-1982
2015
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American journal of human genetics, 2018-11, Vol.103 (5), p.826-826
- Ghosh, Shereen G.
- Becker, Kerstin
- Huang, He
- Dixon-Salazar, Tracy
- Chai, Guoliang
- Salpietro, Vincenzo
- Al-Gazali, Lihadh
- Waisfisz, Quinten
- Wang, Haicui
- Vaux, Keith K.
- Stanley, Valentina
- Manole, Andreea
- Akpulat, Ugur
- Weiss, Marjan M.
- Efthymiou, Stephanie
- Hanna, Michael G.
- Minetti, Carlo
- Striano, Pasquale
- Pisciotta, Livia
- De Grandis, Elisa
- Altmüller, Janine
- Nürnberg, Peter
- Thiele, Holger
- Yis, Uluc
- Okur, Tuncay Derya
- Polat, Ayse Ipek
- Amiri, Nafise
- Doosti, Mohammad
- Karimani, Ehsan Ghayoor
- Toosi, Mehran B.
- Haddad, Gabriel
- Karakaya, Mert
- Wirth, Brunhilde
- van Hagen, Johanna M.
- Wolf, Nicole I.
- Maroofian, Reza
- Houlden, Henry
- Cirak, Sebahattin
- Gleeson, Joseph G.
2018
Link zum Volltext
Science advances, 2022-01, Vol.8 (3), p.eabk0114-eabk0114
2022
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HGG advances, 2024-07, Vol.5 (3), p.100289, Article 100289
- van der Laan, Liselot
- Lauffer, Peter
- Rooney, Kathleen
- Silva, Ananília
- Haghshenas, Sadegheh
- Relator, Raissa
- Levy, Michael A.
- Trajkova, Slavica
- Huisman, Sylvia A.
- Bijlsma, Emilia K.
- Kleefstra, Tjitske
- van Bon, Bregje W.
- Baysal, Özlem
- Zweier, Christiane
- Palomares-Bralo, María
- Fischer, Jan
- Szakszon, Katalin
- Faivre, Laurence
- Piton, Amélie
- Mesman, Simone
- Hochstenbach, Ron
- Elting, Mariet W.
- van Hagen, Johanna M.
- Plomp, Astrid S.
- Mannens, Marcel M.A.M.
- Alders, Mariëlle
- van Haelst, Mieke M.
- Ferrero, Giovanni B.
- Brusco, Alfredo
- Henneman, Peter
- Sweetser, David A.
- Sadikovic, Bekim
- Vitobello, Antonio
- Menke, Leonie A.
2024
Link zum Volltext
The Journal of craniofacial surgery, 2018-11, Vol.29 (8), p.2327-2333
2018
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Journal of the American Academy of Dermatology, 2007, Vol.56 (1), p.170-171
2007
Link zum Volltext
American journal of human genetics, 2018-09, Vol.103 (3), p.431-439
- Ghosh, Shereen G.
- Becker, Kerstin
- Huang, He
- Dixon-Salazar, Tracy
- Chai, Guoliang
- Salpietro, Vincenzo
- Al-Gazali, Lihadh
- Waisfisz, Quinten
- Wang, Haicui
- Vaux, Keith K.
- Stanley, Valentina
- Manole, Andreea
- Akpulat, Ugur
- Weiss, Marjan M.
- Efthymiou, Stephanie
- Hanna, Michael G.
- Minetti, Carlo
- Striano, Pasquale
- Pisciotta, Livia
- De Grandis, Elisa
- Altmüller, Janine
- Weixler, Lisa
- Nürnberg, Peter
- Thiele, Holger
- Yis, Uluc
- Okur, Tuncay Derya
- Polat, Ayse Ipek
- Amiri, Nafise
- Doosti, Mohammad
- Karimani, Ehsan Ghayoor
- Toosi, Mehran B.
- Haddad, Gabriel
- Karakaya, Mert
- Wirth, Brunhilde
- van Hagen, Johanna M.
- Wolf, Nicole I.
- Maroofian, Reza
- Houlden, Henry
- Cirak, Sebahattin
- Gleeson, Joseph G.
2018
Link zum Volltext
Familial cancer, 2004, Vol.3 (2), p.123-127
2004
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Human mutation, 2018-09, Vol.39 (9), p.1226-1237
- Priolo, Manuela
- Schanze, Denny
- Tatton‐Brown, Katrin
- Mulder, Paul A.
- Tenorio, Jair
- Kooblall, Kreepa
- Acero, Inés Hernández
- Alkuraya, Fowzan S.
- Arias, Pedro
- Bernardini, Laura
- Bijlsma, Emilia K.
- Cole, Trevor
- Coubes, Christine
- Dapia, Irene
- Davies, Sally
- Di Donato, Nataliya
- Elcioglu, Nursel H.
- Fahrner, Jill A.
- Foster, Alison
- González, Noelia García
- Huber, Ilka
- Iascone, Maria
- Kaiser, Ann‐Sophie
- Kamath, Arveen
- Liebelt, Jan
- Lynch, Sally Ann
- Maas, Saskia M.
- Mammì, Corrado
- Mathijssen, Inge B.
- McKee, Shane
- Menke, Leonie A.
- Mirzaa, Ghayda M.
- Montgomery, Tara
- Neubauer, Dorothee
- Neumann, Thomas E.
- Pintomalli, Letizia
- Pisanti, Maria Antonietta
- Plomp, Astrid S.
- Price, Sue
- Salter, Claire
- Santos‐Simarro, Fernando
- Sarda, Pierre
- Segovia, Mabel
- Shaw‐Smith, Charles
- Smithson, Sarah
- Suri, Mohnish
- Valdez, Rita Maria
- Haeringen, Arie
- Hagen, Johanna M.
- Zollino, Marcela
- Lapunzina, Pablo
- Thakker, Rajesh V.
- Zenker, Martin
- Hennekam, Raoul C.
2018
Link zum Volltext
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
Link zum Volltext
Pediatric nephrology (Berlin, West), 2005-12, Vol.20 (12), p.1724-1728
2005
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