Showing 1 - 10 results of 10 for search 'Hans vanBokhoven', query time: 0.04s
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Generation of induced pluripotent stem cell lines carrying monoallelic (UCSFi001-A-60) or biallelic (UCSFi001-A-61; UCSFi001-A-62) frameshift variants in CACNA1A using CRISPR/Cas9 by Marina P. Hommersom, Chantal Bijnagte-Schoenmaker, Silvia Albert, Bart P.C. van de Warrenburg, Nael Nadif Kasri, Hans van Bokhoven
Published 2022-05-01
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Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9 by Neelam Fatima, Lieke Dillen, Marina P. Hommersom, Ece Çepni, Fareeha Fatima, Ellen van Beusekom, Silvia Albert, Asma Ali Khan, Arjan P.M. de Brouwer, Hans van Bokhoven
Published 2024-10-01
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Ameliorated cellular hallmarks of myotonic dystrophy in hybrid myotubes from patient and unaffected donor cells by Renée H.L. Raaijmakers, C. Rosanne M. Ausems, Marieke Willemse, Sarah A. Cumming, Baziel G.M. van Engelen, Darren G. Monckton, Hans van Bokhoven, Derick G. Wansink
Published 2024-09-01
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Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models by Hamid Meziane, Marie-Christine Birling, Olivia Wendling, Sophie Leblanc, Aline Dubos, Mohammed Selloum, Guillaume Pavlovic, Tania Sorg, Vera M. Kalscheuer, Pierre Billuart, Frédéric Laumonnier, Jamel Chelly, Hans van Bokhoven, Yann Herault
Published 2022-12-01
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Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway by Shan Wang, Jon-Ruben van Rhijn, Ibrahim Akkouh, Naoki Kogo, Nadine Maas, Anna Bleeck, Irene Santisteban Ortiz, Elly Lewerissa, Ka Man Wu, Chantal Schoenmaker, Srdjan Djurovic, Hans van Bokhoven, Tjitske Kleefstra, Nael Nadif Kasri, Dirk Schubert
Published 2022-05-01
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Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1 by Lieke Dillen, Neelam Fatima, Marina P. Hommersom, Ece Çepni, Fareeha Fatima, Ellen van Beusekom, Silvia Albert, Johanna M. van Hagen, Bert B.A. de Vries, Asma Ali Khan, Arjan P.M. de Brouwer, Hans van Bokhoven
Published 2024-06-01
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A complex structural variant near SOX3 causes X-linked split-hand/foot malformation by Elke de Boer, Carlo Marcelis, Kornelia Neveling, Ellen van Beusekom, Alexander Hoischen, Willemijn M. Klein, Nicole de Leeuw, Tuomo Mantere, Uirá S. Melo, Jeroen van Reeuwijk, Dominique Smeets, Malte Spielmann, Tjitske Kleefstra, Hans van Bokhoven, Lisenka E.L.M. Vissers
Published 2023-07-01
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Human intellectual disability genes form conserved functional modules in Drosophila. by Merel A W Oortveld, Shivakumar Keerthikumar, Martin Oti, Bonnie Nijhof, Ana Clara Fernandes, Korinna Kochinke, Anna Castells-Nobau, Eva van Engelen, Thijs Ellenkamp, Lilian Eshuis, Anne Galy, Hans van Bokhoven, Bianca Habermann, Han G Brunner, Christiane Zweier, Patrik Verstreken, Martijn A Huynen, Annette Schenck
Published 2013-10-01
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Biallelic loss of EMC10 leads to mild to severe intellectual disability by Rauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, Sughra Gulieva, Maha S. Zaki, Noa Z. Henig, Karine Siquier, Ulviyya Guliyeva, Samir M. Mounir, Daphna Marom, Aynur Allahverdiyeva, Hisham Megahed, Hans vanBokhoven, Vincent Cantagrel, Aboulfazl Rad, Alemeh Pourkeramti, Boshra Dehghani, Diane D. Shao, Keren Markus‐Bustani, Efrat Sofrin‐Drucker, Naama Orenstein, Kamran Salayev, Filippo Arrigoni, Henry Houlden, Reza Maroofian
Published 2022-07-01
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