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Published in PLoS biology (01.01.2011)
Published in PLoS biology (01.01.2011)
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Published in Cell reports (Cambridge) (30.06.2015)
Published in Cell reports (Cambridge) (30.06.2015)
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Mutations in CSPP1 Lead to Classical Joubert Syndrome
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Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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Asymmetry within and around the human planum temporale is sexually dimorphic and influenced by genes involved in steroid hormone receptor activity
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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome
Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C.J., Sistermans, Erik A., de Vries, Bert B.A., van Bokhoven, Hans
Published in American journal of human genetics (01.08.2006)
Published in American journal of human genetics (01.08.2006)
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Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia
Sihombing, Nydia Rena Benita, Winarni, Tri Indah, Leeuw, Nicole de, Bon, Bregje van, Bokhoven, Hans van, Faradz, Sultana MH
Published in Intractable & Rare Diseases Research (31.05.2023)
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Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome
Morgan, Neil V., Brueton, Louise A., Cox, Phillip, Greally, Marie T., Tolmie, John, Pasha, Shanaz, Aligianis, Irene A., van Bokhoven, Hans, Marton, Tamas, Al-Gazali, Lihadh, Morton, Jenny E.V., Oley, Christine, Johnson, Colin A., Trembath, Richard C., Brunner, Han G., Maher, Eamonn R.
Published in American journal of human genetics (01.08.2006)
Published in American journal of human genetics (01.08.2006)
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The genetics of cognitive epigenetics
Kleefstra, Tjitske, Schenck, Annette, Kramer, Jamie M., van Bokhoven, Hans
Published in Neuropharmacology (01.05.2014)
Published in Neuropharmacology (01.05.2014)
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Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling
Frega, Monica, Linda, Katrin, Keller, Jason M, Gümüş-Akay, Güvem, Mossink, Britt, van Rhijn, Jon-Ruben, Negwer, Moritz, Klein Gunnewiek, Teun, Foreman, Katharina, Kompier, Nine, Schoenmaker, Chantal, van den Akker, Willem, van der Werf, Ilse, Oudakker, Astrid, Zhou, Huiqing, Kleefstra, Tjitske, Schubert, Dirk, van Bokhoven, Hans, Nadif Kasri, Nael
Published in Nature communications (30.10.2019)
Published in Nature communications (30.10.2019)
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Transcription factor p63 bookmarks and regulates dynamic enhancers during epidermal differentiation
Kouwenhoven, Evelyn N, Oti, Martin, Niehues, Hanna, van Heeringen, Simon J, Schalkwijk, Joost, Stunnenberg, Hendrik G, van Bokhoven, Hans, Zhou, Huiqing
Published in EMBO reports (01.07.2015)
Published in EMBO reports (01.07.2015)
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Rinne, Tuula, Brunner, Hans G., van Bokhoven, Hans
Published in Cell cycle (Georgetown, Tex.) (01.02.2007)
Published in Cell cycle (Georgetown, Tex.) (01.02.2007)
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Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
FROYEN, Guy, BAUTERS, Marijke, MARYNEN, Peter, GECZ, Jozef, TURNER, Gillian, BOYLE, Jackie, VAN ESCH, Hilde, GOVAERTS, Karen, VAN BOKHOVEN, Hans, ROPERS, Hans-Hilger, MORAINE, Claude, CHELLY, Jamel, FRYNS, Jean-Pierre
Published in Human genetics (01.06.2007)
Published in Human genetics (01.06.2007)
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Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry
Jae, Lucas T., Raaben, Matthijs, Riemersma, Moniek, van Beusekom, Ellen, Blomen, Vincent A., Velds, Arno, Kerkhoven, Ron. M., Carette, Jan E., Topaloglu, Haluk, Meinecke, Peter, Wessels, Marja W., Lefeber, Dirk J., Whelan, Sean P., van Bokhoven, Hans, Brummelkamp, Thijn R.
Published in Science (American Association for the Advancement of Science) (26.04.2013)
Published in Science (American Association for the Advancement of Science) (26.04.2013)
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Neurologic Aspects of MECP2 Gene Duplication in Male Patients
Echenne, Bernard, MD, Roubertie, Agathe, MD, PhD, Lugtenberg, Dorien, PhD, Kleefstra, Titske, MD, PhD, Hamel, Ben C.J., MD, PhD, Van Bokhoven, Hans, PhD, Lacombe, Didier, MD, PhD, Philippe, Christophe, PhD, Jonveaux, Philippe, MD, PhD, de Brouwer, Arjan P.M., PhD
Published in Pediatric neurology (01.09.2009)
Published in Pediatric neurology (01.09.2009)
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Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
Knaus, Alexej, Kortüm, Fanny, Kleefstra, Tjitske, Stray-Pedersen, Asbjørg, Đukić, Dejan, Murakami, Yoshiko, Gerstner, Thorsten, van Bokhoven, Hans, Iqbal, Zafar, Horn, Denise, Kinoshita, Taroh, Hempel, Maja, Krawitz, Peter M.
Published in American journal of human genetics (01.08.2019)
Published in American journal of human genetics (01.08.2019)
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