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135 results
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Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, Küry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerová V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, Robinson PN, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AOM; Minerva Consortium. Nellåker C, et al. Among authors: kooy rf. Front Genet. 2019 Jul 29;10:611. doi: 10.3389/fgene.2019.00611. eCollection 2019. Front Genet. 2019. PMID: 31417602 Free PMC article.
Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study.
Ivashko-Pachima Y, Hadar A, Grigg I, Korenková V, Kapitansky O, Karmon G, Gershovits M, Sayas CL, Kooy RF, Attems J, Gurwitz D, Gozes I. Ivashko-Pachima Y, et al. Among authors: kooy rf. Mol Psychiatry. 2021 May;26(5):1619-1633. doi: 10.1038/s41380-019-0563-5. Epub 2019 Oct 30. Mol Psychiatry. 2021. PMID: 31664177
Transgenic mouse model for the fragile X syndrome.
Kooy RF, D'Hooge R, Reyniers E, Bakker CE, Nagels G, De Boulle K, Storm K, Clincke G, De Deyn PP, Oostra BA, Willems PJ. Kooy RF, et al. Am J Med Genet. 1996 Aug 9;64(2):241-5. doi: 10.1002/(SICI)1096-8628(19960809)64:2<241::AID-AJMG1>3.0.CO;2-X. Am J Med Genet. 1996. PMID: 8844056
The fragile X syndrome and other fragile site disorders.
Kooy RF, Oostra BA, Willems PJ. Kooy RF, et al. Results Probl Cell Differ. 1998;21:1-46. doi: 10.1007/978-3-540-69680-3_1. Results Probl Cell Differ. 1998. PMID: 9670313 Review. No abstract available.
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
Reyniers E, Martin JJ, Cras P, Van Marck E, Handig I, Jorens HZ, Oostra BA, Kooy RF, Willems PJ. Reyniers E, et al. Among authors: kooy rf. Am J Med Genet. 1999 May 28;84(3):245-9. doi: 10.1002/(sici)1096-8628(19990528)84:3<245::aid-ajmg16>3.0.co;2-u. Am J Med Genet. 1999. PMID: 10331601
Fragile X syndrome at the turn of the century.
Kooy RF, Willemsen R, Oostra BA. Kooy RF, et al. Mol Med Today. 2000 May;6(5):193-8. doi: 10.1016/s1357-4310(00)01674-9. Mol Med Today. 2000. PMID: 10782066 Review.
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