المؤلفون: Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C. B., Geertjens, L., Bruining, H., van Karnebeek, C. D. M., Jansen, F. E., de Wit, M. C. Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M. G., van Eeghen, A. M.

المصدر: Müller , A R , den Hollander , B , van de Ven , P M , Roes , K C B , Geertjens , L , Bruining , H , van Karnebeek , C D M , Jansen , F E , de Wit , M C Y , ten Hoopen , L W , Rietman , A B , Dierckx , B , Wijburg , F A , Boot , E , Brands , M M G & van Eeghen , A M 2024 , ' Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis ....

Relation: https://research.vumc.nl/en/publications/342704bd-ffbf-4bbd-8e1a-3fe77c464d79

الاتاحة: https://research.vumc.nl/en/publications/342704bd-ffbf-4bbd-8e1a-3fe77c464d79
https://doi.org/10.1186/s12888-023-05422-3
http://www.scopus.com/inward/record.url?scp=85181460322&partnerID=8YFLogxK

المؤلفون: Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C.B., Geertjens, L., Bruining, H., van Karnebeek, C. D.M., Jansen, F. E., de Wit, M. C.Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M.G., van Eeghen, A. M.

المساهمون: CTM & Statistical consultation, Cancer, Neurologen, Brain, TN groep Pasterkamp

مصطلحات موضوعية: Behavior, Cannabidiol, CBD, Fragile X syndrome, Intellectual disability, Mucopolysaccharidosis, N-of-1, Sanfilippo disease, Tuberous sclerosis complex, Psychiatry and Mental health

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/453856

الاتاحة: https://dspace.library.uu.nl/handle/1874/453856

المؤلفون: Boot, E, Levy, A, Gaeta, G, Gunasekara, N, Parkkinen, E, Kontaris, E, Jacquot, M, Tachtsidis, I

المصدر: Frontiers in Neuroscience , 18 , Article 1266664. (2024)

مصطلحات موضوعية: crossmodal visual-olfactory integration, fNIRS, neuroimaging, olfaction, olfactory imagery, systematic review

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10188213/1/fnins-18-1266664.pdf; https://discovery.ucl.ac.uk/id/eprint/10188213/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10188213/1/fnins-18-1266664.pdf
https://discovery.ucl.ac.uk/id/eprint/10188213/

المؤلفون: Zai, G, Alberry, B, Arlothn, J, Banlaki, Z, Bares, C, Boot, E, Camilo, C, Chadha, K, Chen, Q, Cole, CB, Cost, KT, Crow, M, Ekpor, I, Fischer, SB, Flatau, L, Gagliano, S, Kirli, U, Kukshal, P, Labrie, V, Lang, MR, Lett, TA, Maffioletti, E, Maier, R, Mihaljevic, M, Mittal, K, Monson, ET, O'Brien, NL, Ostergaard, SD, Ovenden, E, Patel, S, Peterson, RE, Pouget, JG, Rovaris, DL, Seaman, L, Shankarappa, B, Tsetsos, F, Vereczkei, A, Wang, CY, Xulu, K, Yuen, RKC, Zhao, JJ, Zai, CC, Kennedy, JL

المصدر: Psychiatric genetics. 26(6):229-257

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:134563811

المؤلفون: Blagowidow, N., Nowakowska, B., Schindewolf, E., Grati, F.R., Putotto, C., Breckpot, J., Swillen, A., Crowley, T.B., Loo, J.C.Y., Lairson, L.A., Oskarsdottir, S., Boot, E., Garcia-Minaur, S., Digilio, M.C., Marino, B., Coleman, B., Moldenhauer, J.S., Bassett, A.S., McDonald-McGinn, D.M.

المصدر: Blagowidow , N , Nowakowska , B , Schindewolf , E , Grati , F R , Putotto , C , Breckpot , J , Swillen , A , Crowley , T B , Loo , J C Y , Lairson , L A , Oskarsdottir , S , Boot , E , Garcia-Minaur , S , Digilio , M C , Marino , B , Coleman , B , Moldenhauer , J S , Bassett , A S & McDonald-McGinn , D M 2023 , ' Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions ' , Genes , ....

مصطلحات موضوعية: prenatal ultrasound, 22q11, 2 deletion syndrome, noninvasive prenatal screening, preimplantation genetic testing, fetal cardiac anomaly, DELETION SYNDROME, ULTRASOUND DETECTION, HYPOPLASTIC THYMUS, FETAL CELLS, DE-NOVO, FETUSES, RISK, EXPERIENCE, ANEUPLOIDY, ANOMALIES

Relation: https://cris.maastrichtuniversity.nl/en/publications/2bf87d2c-de7e-4701-a070-ba7f446c5f42

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/2bf87d2c-de7e-4701-a070-ba7f446c5f42
https://doi.org/10.3390/genes14010160

المؤلفون: CTM & Statistical consultation, Cancer, Neurologen, Brain, TN groep Pasterkamp, Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C.B., Geertjens, L., Bruining, H., van Karnebeek, C. D.M., Jansen, F. E., de Wit, M. C.Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M.G., van Eeghen, A. M.

URL: https://doi.org/10.1186/s12888-023-05422-3
http://hdl.handle.net/1874/453856
https://dspace.library.uu.nl/handle/1874/453856
http://www.scopus.com/inward/record.url?scp=85181460322&partnerID=8YFLogxK
1471-244X
BMC Psychiatry
24
1
23

المؤلفون: von Scheibler, E.N.M.M., Bouman, E.S.V., Nuijts, M.A., Bauer, N.J.C., Berendschot, T.T.J.M., Vermeltfoort, P., Bok, L.A., van Eeghen, A.M., Houben, M.L., van Amelsvoort, T.A.M.J., Boot, E., van Egmond-Ebbeling, M.B.

المصدر: von Scheibler , E N M M , Bouman , E S V , Nuijts , M A , Bauer , N J C , Berendschot , T T J M , Vermeltfoort , P , Bok , L A , van Eeghen , A M , Houben , M L , van Amelsvoort , T A M J , Boot , E & van Egmond-Ebbeling , M B 2022 , ' Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study ' , American Journal of Medical Genetics Part A , ....

مصطلحات موضوعية: 22q11, 2 deletion syndrome, CNV, cross-sectional study, ophthalmology, systematic review, RETINAL VASCULAR TORTUOSITY, REFRACTIVE ERRORS, CLINICAL-FEATURES, VISUAL IMPAIRMENT, PREVALENCE, CHILDREN, ADULTS, ASTIGMATISM, DISORDERS, ANOMALIES

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/a14f6825-705f-4eeb-86f6-6d4e65a9844b
https://doi.org/10.1002/ajmg.a.62556

المؤلفون: Boot, E., Eeghen, A.M. van, Bloem, B.R., Warrenburg, B.P.C. van de, Cuypers, M.

المصدر: Parkinsonism & Related Disorders, 128, pp. 107079

مصطلحات موضوعية: Neurology - Radboud University Medical Center - DCMN, Primary and Community Care - Radboud University Medical Center

Relation: https://hdl.handle.net/2066/314631

الاتاحة: https://hdl.handle.net/2066/314631
https://doi.org/10.1016/j.parkreldis.2024.107079

المؤلفون: Korteling, D., Musch, J.L.I., Zinkstok, J.R., Boot, E.

المصدر: American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, 195, 2, pp. e32956

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 13: Stress-related disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/303498/303498.pdf; https://repository.ubn.ru.nl/handle/2066/303498

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/303498/303498.pdf
https://repository.ubn.ru.nl/handle/2066/303498
https://doi.org/10.1002/ajmg.b.32956

المؤلفون: Cleynen I., Engchuan W., Hestand M. S., Heung T., Holleman A. M., Johnston H. R., Monfeuga T., McDonald-McGinn D. M., Gur R. E., Morrow B. E., Swillen A., Vorstman J. A. S., Bearden C. E., Chow E. W. C., van den Bree M., Emanuel B. S., Vermeesch J. R., Warren S. T., Owen M. J., Chopra P., Cutler D. J., Duncan R., Kotlar A. V., Mulle J. G., Voss A. J., Zwick M. E., Diacou A., Golden A., Guo T., Lin J. -R., Wang T., Zhang Z., Zhao Y., Marshall C., Merico D., Jin A., Lilley B., Salmons H. I., Tran O., Holmans P., Pardinas A., Walters J. T. R., Demaerel W., Boot E., Butcher N. J., Costain G. A., Lowther C., Evers R., van Amelsvoort T. A. M. J., van Duin E., Vingerhoets C., Breckpot J., Devriendt K., Vergaelen E., Vogels A., Crowley T. B., McGinn D. E., Moss E. M., Sharkus R. J., Unolt M., Zackai E. H., Calkins M. E., Gallagher R. S., Gur R. C., Tang S. X., Fritsch R., Ornstein C., Repetto G. M., Breetvelt E., Duijff S. N., Fiksinski A., Moss H., Niarchou M., Murphy K. C., Prasad S. E., Daly E. M., Gudbrandsen M., Murphy C. M., Murphy D. G., Buzzanca A., Fabio F. D., Digilio M. C., Pontillo M., Marino B., Vicari S., Coleman K., Cubells J. F., Ousley O. Y., Carmel M., Gothelf D., Mekori-Domachevsky E., Michaelovsky E., Weinberger R., Weizman A., Kushan L., Jalbrzikowski M., Armando M., Eliez S., Sandini C., Schneider M., Bena F. S., Antshel K. M., Fremont W., Kates W. R., Belzeaux R., Busa T., Philip N., Campbell L. E., McCabe K. L., Hooper S. R., Schoch K., Shashi V., Simon T. J., Tassone F., Arango C., Fraguas D., Garcia-Minaur S., Morey-Canyelles J., Rosell J., Suner D. H., Raventos-Simic J., Epstein M. P., Williams N. M., Bassett A. S.

المساهمون: Cleynen, I., Engchuan, W., Hestand, M. S., Heung, T., Holleman, A. M., Johnston, H. R., Monfeuga, T., McDonald-McGinn, D. M., Gur, R. E., Morrow, B. E., Swillen, A., Vorstman, J. A. S., Bearden, C. E., Chow, E. W. C., van den Bree, M., Emanuel, B. S., Vermeesch, J. R., Warren, S. T., Owen, M. J., Chopra, P., Cutler, D. J., Duncan, R., Kotlar, A. V., Mulle, J. G., Voss, A. J., Zwick, M. E., Diacou, A., Golden, A., Guo, T., Lin, J. -R., Wang, T., Zhang, Z., Zhao, Y., Marshall, C., Merico, D., Jin, A., Lilley, B., Salmons, H. I., Tran, O., Holmans, P., Pardinas, A., Walters, J. T. R., Demaerel, W., Boot, E., Butcher, N. J., Costain, G. A., Lowther, C., Evers, R., van Amelsvoort, T. A. M. J., van Duin, E., Vingerhoets, C., Breckpot, J., Devriendt, K., Vergaelen, E., Vogels, A., Crowley, T. B., McGinn, D. E., Moss, E. M., Sharkus, R. J., Unolt, M., Zackai, E. H., Calkins, M. E., Gallagher, R. S., Gur, R. C., Tang, S. X., Fritsch, R., Ornstein, C., Repetto, G. M., Breetvelt, E., Duijff, S. N., Fiksinski, A., Moss, H., Niarchou, M., Murphy, K. C., Prasad, S. E., Daly, E. M., Gudbrandsen, M., Murphy, C. M., Murphy, D. G., Buzzanca, A., Fabio, F. D., Digilio, M. C., Pontillo, M., Marino, B., Vicari, S., Coleman, K., Cubells, J. F., Ousley, O. Y., Carmel, M., Gothelf, D., Mekori-Domachevsky, E., Michaelovsky, E., Weinberger, R., Weizman, A., Kushan, L., Jalbrzikowski, M., Armando, M., Eliez, S., Sandini, C., Schneider, M.

مصطلحات موضوعية: genetic, 22q11deletion syndrome, schizophrenia

Relation: info:eu-repo/semantics/altIdentifier/pmid/32015465; info:eu-repo/semantics/altIdentifier/wos/WOS:000510821800003; journal:MOLECULAR PSYCHIATRY; http://hdl.handle.net/11573/1486440; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85079175539

الاتاحة: http://hdl.handle.net/11573/1486440
https://doi.org/10.1038/s41380-020-0654-3

المؤلفون: Müller, A. R., Zinkstok, J. R., Rommelse, N. N. J., van de Ven, P. M., Roes, K. C. B., Wijburg, F. A., de Rooij-Askes, E., Linders, C., Boot, E., van Eeghen, A. M.

المصدر: Müller , A R , Zinkstok , J R , Rommelse , N N J , van de Ven , P M , Roes , K C B , Wijburg , F A , de Rooij-Askes , E , Linders , C , Boot , E & van Eeghen , A M 2021 , ' Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials ' , Orphanet Journal of Rare Diseases , vol. 16 , no. 1 , 380 . https://doi.org/10.1186/s13023-021-02003-z

الاتاحة: https://research.vumc.nl/en/publications/d78993ce-0f37-44fc-9056-5e3330518966
https://doi.org/10.1186/s13023-021-02003-z
http://www.scopus.com/inward/record.url?scp=85114485886&partnerID=8YFLogxK

المؤلفون: Zinkstok, J R, Velders, F, Rieken, R, Houben, M, Fiksinski, A, van Amelsvoort, T A M J, Boot, E

المساهمون: Ontwikkelingsstoornissen Med., Cluster D, Integrale & Alg. Kindergen Patientenzorg, Child Health, Onderzoek

مصطلحات موضوعية: ziekte van Parkinson, parkinsonisme, katatonie, bewegingsstoornissen, 22q11-deletiesyndroom, DiGeorge Syndrome/diagnosis, Humans, Catatonia, Delayed Diagnosis, Movement Disorders, Adolescent, Female, Psychotic Disorders/diagnosis, English Abstract, Journal Article, Case Reports

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/439628

الاتاحة: https://dspace.library.uu.nl/handle/1874/439628

المؤلفون: Boot, E., Mentzel, T.Q., Palmer, L.D., van Harten, P.N., Marras, C., Lang, A.E., Bassett, A.S.

المصدر: Boot , E , Mentzel , T Q , Palmer , L D , van Harten , P N , Marras , C , Lang , A E & Bassett , A S 2020 , ' Age-Related Parkinsonian Signs in Microdeletion 22q11.2 ' , Movement Disorders , vol. 35 , no. 7 , pp. 1239-1245 . https://doi.org/10.1002/mds.28080

مصطلحات موضوعية: 2 deletion syndrome, 22q11, adults, aging, association, clinical-features, deletion, disease, disorder, motor abnormalities, parkinson's disease, parkinsonism, symptoms, wearable sensors

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/37ae4ff0-5211-46e0-bf51-5b340fda5110
https://doi.org/10.1002/mds.28080

المؤلفون: Linders, C.C., Eeghen, A.M. van, Zinkstok, J.R., Boogaard, M.J. van den, Boot, E.

المصدر: Genes; 1514; 2073-4425; 8; 14; 1514; ~Genes~1514~~~~2073-4425~8~14~~1514

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/295902/295902.pdf
https://repository.ubn.ru.nl/handle/2066/295902

المؤلفون: Pasternak, M., Shirzadi, Z., Mutsaerts, H.J.M.M., Boot, E., Butcher, N.J., MacIntosh, B.J., Heung, T., Bassett, A.S., Masellis, M.

المصدر: Pasternak , M , Shirzadi , Z , Mutsaerts , H J M M , Boot , E , Butcher , N J , MacIntosh , B J , Heung , T , Bassett , A S & Masellis , M 2023 , ' Elevated regional cerebral blood flow in adults with 22q11.2 deletion syndrome ' , World Journal of Biological Psychiatry , vol. 24 , no. 3 , pp. 260-265 . https://doi.org/10.1080/15622975.2022.2093969

مصطلحات موضوعية: DiGeorge syndrome, cerebral perfusion, schizophrenia, imaging, genetics

Relation: https://cris.maastrichtuniversity.nl/en/publications/d31f3ec7-756c-4cbd-b452-dcfeecf07432

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/d31f3ec7-756c-4cbd-b452-dcfeecf07432
https://doi.org/10.1080/15622975.2022.2093969

المؤلفون: Óskarsdóttir, S., Boot, E., Crowley, T.B., Loo, JCY, Arganbright, J.M., Armando, M., Baylis, A.L., Breetvelt, E.J., Castelein, R.M., Chadehumbe, M., Cielo, C.M., de Reuver, S., Eliez, S., Fiksinski, A.M., Forbes, B.J., Gallagher, E., Hopkins, S.E., Jackson, O.A., Levitz-Katz, L., Klingberg, G., Lambert, M.P., Marino, B., Mascarenhas, M.R., Moldenhauer, J., Moss, E.M., Nowakowska, B.A., Orchanian-Cheff, A., Putotto, C., Repetto, G.M., Schindewolf, E., Schneider, M., Solot, C.B., Sullivan, K.E., Swillen, A., Unolt, M., Van Batavia, J.P., Vingerhoets, C., Vorstman, J., Bassett, A.S., McDonald-McGinn, D.M.

المصدر: Genetics in medicine, vol. 25, no. 3, pp. 100338

مصطلحات موضوعية: Adolescent, Humans, Child, DiGeorge Syndrome/genetics, DiGeorge Syndrome/therapy, Genetic Counseling, Surveys and Questionnaires, 22q11.2 deletion syndrome, Children, Clinical practice guidelines, Review, Treatment

Relation: info:eu-repo/semantics/altIdentifier/pmid/36729053; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; https://serval.unil.ch/notice/serval:BIB_A4D720536A21

الاتاحة: https://serval.unil.ch/notice/serval:BIB_A4D720536A21
https://doi.org/10.1016/j.gim.2022.11.006

المؤلفون: Boot, E., Oskarsdottir, Solveig, 1953, Loo, J. C. Y., Crowley, T. B., Orchanian-Cheff, A., Andrade, D. M., Arganbright, J. M., Castelein, R. M., Cserti-Gazdewich, C., de Reuver, S., Fiksinski, A. M., Klingberg, G., Lang, A. E., Mascarenhas, M. R., Moss, E. M., Nowakowska, B. A., Oechslin, E., Palmer, L., Repetto, G. M., Reyes, N. G. D., Schneider, M., Silversides, C., Sullivan, K. E., Swillen, A., van Amelsvoort, Tamj, Van Batavia, J. P., Vingerhoets, C., McDonald-McGinn, D. M., Bassett, A. S.

المصدر: Genetics in Medicine. 25(3)

مصطلحات موضوعية: Clinical Medicine, Klinisk medicin, Adults, Aging, Clinical practice guidelines, DiGeorge syndrome, Treatment, bernard-soulier-syndrome, low-copy repeats, velocardiofacial syndrome, presenting symptoms, antibody deficiency, parkinsons-disease, schizophrenia, features, risk, prevalence, Genetics & Heredity

URL الوصول: https://gup.ub.gu.se/publication/330949

المؤلفون: Boot, E, Butcher, NJ, Udow, S, Marras, C, Mok, KY, Kaneko, S, Barrett, MJ, Prontera, P, Berman, BD, Masellis, M, Dufournet, B, Nguyen, K, Charles, P, Mutez, E, Danaila, T, Jacquette, A, Colin, O, Drapier, S, Borg, M, Fiksinski, AM, Vergaelen, E, Swillen, A, Vogels, A, Plate, A, Perandones, C, Gasser, T, Clerinx, K, Bourdain, F, Mills, K, Williams, NM, Wood, NW, Booij, J, Lang, AE, Bassett, AS, International Research Group on 22q11.2DS-associated Parkinson's

المصدر: Neurology , 90 (23) e2059-e2067. (2018)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10050932/1/Boot%20_Typical%20features.pdf; https://discovery.ucl.ac.uk/id/eprint/10050932/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10050932/1/Boot%20_Typical%20features.pdf
https://discovery.ucl.ac.uk/id/eprint/10050932/

المؤلفون: EKKER, M. S., BOOT, E. M., SINGHAL, A. B., TAN, K. S., DEBETTE, Stéphanie, TULADHAR, A. M., DE LEEUW, F. E.

مصطلحات موضوعية: VINTAGE, Sciences du Vivant [q-bio]/Santé publique et épidémiologie

Relation: https://oskar-bordeaux.fr/handle/20.500.12278/12149

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/12149
https://hdl.handle.net/20.500.12278/12149
https://doi.org/10.1016/s1474-4422(18)30233-3

المؤلفون: Boot, E., Hollak, C. E. M., Huijbregts, S. C. J., Jahja, R., van Vliet, D., Nederveen, A. J., Nieman, D. H., Bosch, A. M., Bour, L. J., Bakermans, A. J., Abeling, N. G. G. M., Bassett, A. S., van Amelsvoort, T. A. M. J., van Spronsen, F. J., Booij, J.

المصدر: Boot , E , Hollak , C E M , Huijbregts , S C J , Jahja , R , van Vliet , D , Nederveen , A J , Nieman , D H , Bosch , A M , Bour , L J , Bakermans , A J , Abeling , N G G M , Bassett , A S , van Amelsvoort , T A M J , van Spronsen , F J & Booij , J 2017 , ' Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria ' , Psychological Medicine ....

مصطلحات موضوعية: Dopamine, executive function, impulsivity, monoamines, phenylketonuria, MAGNETIC-RESONANCE-SPECTROSCOPY, CONTINUOUSLY TREATED PHENYLKETONURIA, BRAIN PHENYLALANINE CONCENTRATIONS, VISUAL-EVOKED POTENTIALS, 22Q11 DELETION SYNDROME, GENETIC MOUSE MODEL, HOMOVANILLIC-ACID, AMINO-ACIDS, NEUROPSYCHOLOGICAL TESTS, RECEPTOR AVAILABILITY

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/1d2770d8-d60f-46bd-bb07-18fa54df2dc0
https://research.rug.nl/en/publications/1d2770d8-d60f-46bd-bb07-18fa54df2dc0
https://doi.org/10.1017/S0033291717001398
https://pure.rug.nl/ws/files/51215458/cerebral_dopamine_deficiency_plasma_monoamine_alterations_and_neurocognitive_deficits_in_adults_with_phenylketonuria.pdf