J. H. L. M. (Hans) van Bokhoven - Dissemin

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Papers authored by J. H. L. M. (Hans) van Bokhoven

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2023 Alan P. Tenney, Hans van Bokhoven

ORCID

, Silvio Alessandro Di Gioia

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, Bryn D. Webb, Wai-Man Chan

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, Sarah J. Garnai

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, Brenda J. Barry, Tammy Ray, Michael Kosicki, Caroline D. Robson

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, Zhongyang Zhang

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, Thomas E. Collins, Alon Gelber, Brandon M. Pratt

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and 44 other authors

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

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2022 Hamid Meziane

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, Marie-Christine Birling, Olivia Wendling, Sophie Leblanc, Aline Dubos

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, Mohammed Selloum

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, Guillaume Pavlovic

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, Tania Sorg, Vera M. Kalscheuer

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, Pierre Billuart

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, Frédéric Laumonnier

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, Jamel Chelly, Hans van Bokhoven

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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

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2021 Marina P. Hommersom

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, Ronald A. M. Buijsen

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, Willeke M. C. van Roon-Mom

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, Bart P. C. van de Warrenburg

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, Hans van Bokhoven

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Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias

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Britt Mossink

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, Ilse van der Werf

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, Jon-Ruben van Rhijn, Shan Wang, Maria R. Vitale, Johanna E. M. Zöller, Katrin Linda, van Hugte Ejh, Eline J. H. van Hugte, Anouk H. A. Verboven

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, Moritz Negwer, Martijn Selten

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, Verboven Aha, Brooke L. Latour and 14 other authors

Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks

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2019 Kriti D. Khandelwal, Marie-José H. van den Boogaard, Sarah L. Mehrem, Jakob Gebel, Christina Fagerberg

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, Ellen van Beusekom, Ellen van Binsbergen, Ozan Topaloglu, Marloes Steehouwer, Christian Gilissen

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, Nina Ishorst, Iris A. L. M. van Rooij, Nel Roeleveld, Kaare Christensen, Joseph Schoenaers and 11 other authors

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

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2017 Nj van der Wee, Dennis van't Ent, Jl L. Stein, Hieab H. Hh Adams, Neda Jahanshad, Ganesh Chauhan, Me E. (Miguel) Renteria, Mw W. (Meike) Vernooij, Edith Hofer, Kn N. (Kjetil N.) Jørgensen, Kjetil N. Jorgensen, M. Kamran Ikram, Alejandro Arias-Vasquez, M. Kamran Ikram, Sylvane Desrivières and 401 other authors

Novel genetic loci associated with hippocampal volume

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2016 Charlotte W. Ockeloen, Kriti D. Khandelwal, Karoline Dreesen, Kerstin U. Ludwig

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, Robert Sullivan, Iris A. L. M. van Rooij, Michelle Thonissen, Steven Swinnen, I. A. L. M. van Rooij, Milien Phan, I. A. van Rooij, Federica Conte, Nina Ishorst, Christian F. Gilissen

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, Laury A. Roa Fuentes and 37 other authors

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

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W. Ba, M. M. Selten, J. van der Raadt

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, H. van Veen, J. van der Raadt, L.-L. Li, H. van Veen, M. Benevento, A. R. Oudakker, R. S. E. Lasabuda, S. J. Letteboer, R. Roepman, R. J. A. van Wezel, R. J. A. van Wezel, M. J. Courtney

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and 3 other authors

ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function

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Jeroen van der Grond, Aad van der Lugt, D. van der Meer, Nic J. A. van der Wee, Kristel R. van Eijk, Marcel van der Brug, Cornelia M. van Duijn, Neeltje E. M. van Haren, Marie-Jose van Tol, Sven van der Lee, Marjolein M. J. van Donkelaar, Hieab H. Hhh Adams

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, Derrek P. Hibar, Vincent Chouraki, Jason L. Stein and 521 other authors

Novel genetic loci underlying human intracranial volume identified through genome-wide association

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2015 Moniek Riemersma, D. Sean Froese

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, Walinka van Tol, Udo F. Engelke, Jolanta Kopec, Monique van Scherpenzeel

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, Angel Ashikov, Tobias Krojer, Frank von Delft, Marco Tessari, Anna Buczkowska, Ewa Swiezewska, Lucas T. Jae, Thijn R. Brummelkamp, Hiroshi Manya and 4 other authors

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.

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Marco Benevento

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, Marise van de Molengraft

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, Rhode van Westen, Hans van Bokhoven, Nael Nadif Kasri

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The role of chromatin repressive marks in cognition and disease: A focus on the repressive complex GLP/G9a

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Dennis van ’t Ent, Nic J. A. van der Wee, Marcel van der Brug

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, Marie-Jose van Tol, Sven J. van der Lee, Cornelia M. van Duijn, N. E. M. van Haren, Kristel R. van Eijk, Saskia S. L. van der Marel, Kimm J. E. van Hulzen, Marjolein M. J. van Donkelaar, Eco J. C. de Geus, Greig I. de Zubicaray, Anouk den Braber, Dennis van 't Ent and 932 other authors

Common genetic variants influence human subcortical brain structures

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2014 Alma Kuechler, Marjolein H. Willemsen, Beate Albrecht, Carlos A. Bacino, Dennis W. Bartholomew, Hans van Bokhoven, Marie Jose H. van den Boogaard, Nuria Bramswig, Christian Büttner, Kirsten Cremer, Johanna Christina Czeschik, Hartmut Engels, Koen van Gassen, Elisabeth Graf, Mieke van Haelst

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and 23 other authors

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

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2013 A. Reghan Foley, S. Al Turki, C. Anderson, Keren J. Carss, R. Anney, D. Antony, J. Asimit, M. Ayub, J. Barrett, Elizabeth Stevens, I. Barroso, P. Beales, J. Bentham, S. Bhattacharya, Ar Reghan Foley and 183 other authors

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

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Anneke T. Vulto-Van Silfhout, Bert B. A. de Vries, Bregje W. M. van Bon, Alexander Hoischen

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, B. de Vries, Martina Ruiterkamp-Versteeg, Christian F. Gilissen

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, B. W. van Bon, Fangjian Gao, Marloes van Zwam

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, H. O. Gao, Cornelis L. Harteveld, Anthonie J. van Essen, M. van Zwam, Ben C. J. Hamel and 10 other authors

Mutations in MED12 Cause X-Linked Ohdo Syndrome

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Karen Buysse, Moniek Riemersma, Gareth Powell, Jeroen van Reeuwijk

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, David Chitayat, Tony Roscioli, Erik-Jan Kamsteeg, Christa van den Elzen, Ellen van Beusekom, Susan Blaser, Riyana Babul-Hirji, William Halliday, Gavin J. Wright, Derek L. Stemple, Yung-Yao Lin and 2 other authors

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

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Zafar Iqbal, Geert Vandeweyer, Monique van der Voet

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, Ali Muhammad Waryah, Muhammad Yasir Zahoor, Judith A. Besseling, Laura Tomas Roca, Anneke T. Vulto van Silfhout, Bonnie Nijhof, van der Monique Voet, Jamie M. Kramer, Nathalie Van der Aa, Muhammad Ansar, Hilde Peeters, Frank Kooy and 11 other authors

Homozygous and heterozygous disruptions of ANK3 : at the crossroads of neurodevelopmental and psychiatric disorders

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Zehra Agha, Zafar Iqbal, Maleeha Azam, Lies H. Hoefsloot, Hans van Bokhoven, J. H. L. M. van Bokhoven

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, Raheel Qamar

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family

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2012 Zafar Iqbal, Mohsin Shahzad, Lisenka E. L. M. Vissers

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, Monique van Scherpenzeel

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, M. van Scherpenzeel, Christian Gilissen

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, Attia Razzaq, Muhammad Yasir Zahoor, Shaheen N. Khan, Tjitske Kleefstra, Joris A. Veltman, Arjan P. M. de Brouwer, A. P. M. de Brouwer, Dirk J. Lefeber, Hans van Bokhoven and 2 other authors

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

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Janneke H. M. Schuurs-Hoeijmakers, Michael T. Geraghty, Erik-Jan Kamsteeg, Salma Ben-Salem, Susanne T. de Bot, Bonnie Nijhof, Ilse I. G. M. van de Vondervoort, Marinette van der Graaf

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, Anna Castells Nobau

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, Irene Otte-Höller, Sascha Vermeer, Amanda C. Smith, Peter Humphreys, Jeremy Schwartzentruber

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, Bassam R. Ali and 26 other authors

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

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