Zobrazeno 1 - 10
of 490
pro vyhledávání: '"Bokhoven, H. van"'
Publikováno v:
IRDR, 12, 2, pp. 104-113
IRDR, 12, 104-113
IRDR, 12, 104-113
Item does not contain fulltext Intellectual disability (ID) and multiple congenital anomalies (MCA) are major contributors to infant mortality, childhood morbidity, and long-term disability, with multifactorial aetiology including genetics. We aim to
Autor:
Polla, D.L., Rahikkala, E., Bode, M., Maatta, Tuomo, Varilo, T., Loman, Thyrza, Brouwer, A.P.M. de, Bokhoven, H. van, Jarvela, Irma
Publikováno v:
European Journal of Human Genetics, 27, 8, pp. 1235-1243
European Journal of Human Genetics, 27, 1235-1243
European Journal of Human Genetics, 27, 1235-1243
Item does not contain fulltext
Autor:
Vermeulen, K., Staal, W.G., Janzing, J.G.E., Ven, F. van de, Oomens, W., Dongen, L.C.M. van, Bokhoven, H. van, Kleefstra, T., Egger, J.I.M.
Publikováno v:
Clinical Neuropsychiatry, 15, 6, pp. 325-332
Clinical Neuropsychiatry, 15, 325-332
Clinical Neuropsychiatry, 15, 325-332
Contains fulltext : 199705.pdf (Publisher’s version ) (Open Access) Objective: Specific knowledge on neurocognitive functioning in (syndrome based) intellectual disability (ID) is important for the assessment, treatment and support of patients in w
Publikováno v:
Clinical Medical Reviews and Case Reports. 6
Autor:
Koemans, T.S., Oppitz, C., Donders, A.R.T., Bokhoven, H. van, Schenck, A., Keleman, K., Kramer, J.M.
Publikováno v:
Journal of Visualized Experiments, 124, pp. e55808-e55808
Journal of Visualized Experiments, 124, e55808-e55808
Journal of Visualized Experiments, 124, e55808-e55808
Item does not contain fulltext Many insights into the molecular mechanisms underlying learning and memory have been elucidated through the use of simple behavioral assays in model organisms such as the fruit fly, Drosophila melanogaster. Drosophila i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::88b293f510d5c7d36910b3e25890c75a
https://hdl.handle.net/2066/174728
https://hdl.handle.net/2066/174728
Autor:
Miranda, Rubén1,2 (AUTHOR) rubenmir@ucm.es, Ceschi, Léa1 (AUTHOR), Le Verger, Delphine1 (AUTHOR), Nagapin, Flora1 (AUTHOR), Edeline, Jean-Marc1 (AUTHOR), Chaussenot, Rémi1 (AUTHOR), Vaillend, Cyrille1 (AUTHOR) cyrille.vaillend@universite-paris-saclay.fr
Publikováno v:
Behavioral & Brain Functions. 8/24/2024, Vol. 20 Issue 1, p1-20. 20p.
Autor:
Pradipta, Ariel1,2 ariel.pradipta@gsilab.id, Paramita, Isabela Andhika2, Tjhin, Vincentius Vieri2, Fauzan, Ihsan2, Chen, David Virya2
Publikováno v:
Malaysian Journal of Medicine & Health Sciences. 2024 Supplement, Vol. 20, p98-106. 9p.
Autor:
Riemersma, M., Mandel, H., Beusekom, E. van, Gazzoli, I., Roscioli, T., Eran, A., Gershoni-Baruch, R., Gershoni, M., Pietrokovski, S., Vissers, L.E.L.M., Lefeber, D.J., Willemsen, M.A.A.P., Wevers, R.A., Bokhoven, H. van
Publikováno v:
Neurology, 84(21), 2177-2182. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 84, 2177-2182
Neurology, 84, 21, pp. 2177-2182
Neurology, 84, 2177-2182
Neurology, 84, 21, pp. 2177-2182
Item does not contain fulltext OBJECTIVE: To identify the underlying genetic defect in 5 patients from a consanguineous family with a Walker-Warburg phenotype, together with intracranial calcifications. METHODS: Homozygosity mapping and exome sequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::91606157071108ecce55f1c3162d4058
https://cris.maastrichtuniversity.nl/en/publications/8b852821-e86d-4e2f-af78-3744ec925afc
https://cris.maastrichtuniversity.nl/en/publications/8b852821-e86d-4e2f-af78-3744ec925afc
Publikováno v:
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 163, 218-31
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 163, 4, pp. 218-31
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 163, 4, pp. 218-31
Contains fulltext : 125487.pdf (Publisher’s version ) (Open Access) Fast developing technologies in genomics have driven genetic studies of human diseases from classical candidate approaches toward hypothesis-free and genome-wide screening methods.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b455de86208497fa14a69a9eab6f9dd0
http://hdl.handle.net/2066/125487
http://hdl.handle.net/2066/125487
Autor:
Huynh, T. N.1 (AUTHOR), Delagrammatikas, C. G.2 (AUTHOR), Chiriatti, L.3 (AUTHOR), Panfili, A.4,5 (AUTHOR), Ventarola, K.6 (AUTHOR), Menke, L. A.7 (AUTHOR), Tartaglia, M.3 (AUTHOR), Huisman, S. A.1,8 (AUTHOR) s.a.huisman@amsterdamumc.nl, Priolo, M.9 (AUTHOR) manuela.priolo@aocardarelli.it
Publikováno v:
Orphanet Journal of Rare Diseases. 7/29/2024, Vol. 19 Issue 1, p1-17. 17p.