المؤلفون: Gazdagh, G, Hunt, D, Gonzalez, AMC, Rodriguez, MP, Chaudhry, A, Madruga, M, Vansenne, F, Shears, D, Curie, A, Stattin, EL, Anderlid, BM, Trajkova, S, Angelovska, ES, McWilliam, C, Wyatt, PR, O'Driscoll, M, Atton, G, Bergman, AK, Zacher, P, Mewasingh, LD, Lopez, AGM, Alonso-Luengo, O, Wai, HA, Rohde, O, Boiroux, P, Debant, A, Schmidt, S, Baralle, D

المصدر: American journal of medical genetics. Part A. 191(7):1722-1740

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:152972161Test

المؤلفون: Fu, JM, Satterstrom, FK, Peng, MS, Brand, H, Collins, RL, Dong, S, Wamsley, B, Klei, L, Wang, L, Hao, SP, Stevens, CR, Cusick, C, Babadi, M, Banks, E, Collins, B, Dodge, S, Gabriel, SB, Gauthier, L, Lee, SK, Liang, L, Ljungdahl, A, Mahjani, B, Sloofman, L, Smirnov, AN, Barbosa, M, Betancur, C, Brusco, A, Chung, BHY, Cook, EH, Cuccaro, ML, Domenici, E, Ferrero, GB, Gargus, JJ, Herman, GE, Hertz-Picciotto, I, Maciel, P, Manoach, DS, Passos-Bueno, MR, Persico, AM, Renieri, A, Sutcliffe, JS, Tassone, F, Trabetti, E, Campos, G, Cardaropoli, S, Carli, D, Chan, MCY, Fallerini, C, Giorgio, E, Girardi, AC, Hansen-Kiss, E, Lee, SL, Lintas, C, Ludena, Y, Nguyen, R, Pavinato, L, Pericak-Vance, M, Pessah, IN, Schmidt, RJ, Smith, M, Costa, CIS, Trajkova, S, Wang, JYT, Yu, MHC, Cutler, DJ, De Rubeis, S, Buxbaum, JD, Daly, MJ, Devlin, B, Roeder, K, Sanders, SJ, Talkowski, ME

المصدر: Nature genetics. 54(9):1320

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:150723612Test

المؤلفون: Karimi K., Mol M. O., Haghshenas S., Relator R., Levy M. A., Kerkhof J., McConkey H., Brooks A., Zonneveld-Huijssoon E., Gerkes E. H., Tedder M. L., Vissers L., Salzano E., Piccione M., Asaftei S. D., Carli D., Mussa A., Shukarova-Angelovska E., Trajkova S., Brusco A., Merla G., Alders M. M., Bouman A., Sadikovic B.

المساهمون: Karimi K., Mol M.O., Haghshenas S., Relator R., Levy M.A., Kerkhof J., McConkey H., Brooks A., Zonneveld-Huijssoon E., Gerkes E.H., Tedder M.L., Vissers L., Salzano E., Piccione M., Asaftei S.D., Carli D., Mussa A., Shukarova-Angelovska E., Trajkova S., Brusco A., Merla G., Alders M.M., Bouman A., Sadikovic B.

مصطلحات موضوعية: CTCF, DNA methylation, Developmental disorder, Episignature,IDD21

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38054406; volume:26; issue:3; firstpage:101041; numberofpages:14; journal:GENETICS IN MEDICINE; https://hdl.handle.net/10447/623193Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85182571710

الإتاحة: https://doi.org/10.1016/j.gim.2023.101041Test
https://hdl.handle.net/10447/623193Test

المؤلفون: Marcogliese P. C., Deal S. L., Andrews J., Harnish J. M., Bhavana V. H., Graves H. K., Jangam S., Luo X., Liu N., Bei D., Chao Y. -H., Hull B., Lee P. -T., Pan H., Bhadane P., Huang M. -C., Longley C. M., Chao H. -T., Chung H. -L., Haelterman N. A., Kanca O., Manivannan S. N., Rossetti L. Z., German R. J., Gerard A., Schwaibold E. M. C., Fehr S., Guerrini R., Vetro A., England E., Murali C. N., Barakat T. S., van Dooren M. F., Wilke M., van Slegtenhorst M., Lesca G., Sabatier I., Chatron N., Brownstein C. A., Madden J. A., Agrawal P. B., Keren B., Courtin T., Perrin L., Brugger M., Roser T., Leiz S., Mau-Them F. T., Delanne J., Sukarova-Angelovska E., Trajkova S., Rosenhahn E., Strehlow V., Platzer K., Keller R., Pavinato L., Brusco A., Rosenfeld J. A., Marom R., Wangler M. F., Yamamoto S.

المساهمون: Marcogliese P.C., Deal S.L., Andrews J., Harnish J.M., Bhavana V.H., Graves H.K., Jangam S., Luo X., Liu N., Bei D., Chao Y.-H., Hull B., Lee P.-T., Pan H., Bhadane P., Huang M.-C., Longley C.M., Chao H.-T., Chung H.-L., Haelterman N.A., Kanca O., Manivannan S.N., Rossetti L.Z., German R.J., Gerard A., Schwaibold E.M.C., Fehr S., Guerrini R., Vetro A., England E., Murali C.N., Barakat T.S., van Dooren M.F., Wilke M., van Slegtenhorst M., Lesca G., Sabatier I., Chatron N., Brownstein C.A., Madden J.A., Agrawal P.B., Keren B., Courtin T., Perrin L., Brugger M., Roser T., Leiz S., Mau-Them F.T., Delanne J., Sukarova-Angelovska E., Trajkova S., Rosenhahn E., Strehlow V., Platzer K., Keller R., Pavinato L., Brusco A., Rosenfeld J.A., Marom R., Wangler M.F., Yamamoto S.

مصطلحات موضوعية: autism spectrum disorder, Drosophila melanogaster, functional genomic, GLRA2, GluClalpha, humanization, missense variant, rare genetic disease, T2A-GAL4, TG4, undiagnosed disease, Animal, Genetic Predisposition to Disease, Human, Autistic Disorder, Drosophila, Neurodevelopmental Disorder, Receptors, Glycine

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35294868; info:eu-repo/semantics/altIdentifier/wos/WOS:000772210700003; volume:38; issue:11; firstpage:110517; lastpage:110532; numberofpages:16; journal:CELL REPORTS; http://hdl.handle.net/2318/1854165Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85126320885; https://www.cell.com/cell-reports/fulltext/S2211-1247Test(22)00253-4?_returnURL=https://linkinghub.elsevier.com/retrieve/pii/S2211124722002534?showall=trueTest

الإتاحة: https://doi.org/10.1016/j.celrep.2022.110517Test
http://hdl.handle.net/2318/1854165Test
https://www.cell.com/cell-reports/fulltext/S2211-1247Test(22)00253-4?_returnURL=https://linkinghub.elsevier.com/retrieve/pii/S2211124722002534?showall=trueTest

المؤلفون: Pavinato L., Trajkova S., Grosso E., Giorgio E., Bruselles A., Radio F. C., Pippucci T., Dimartino P., Tartaglia M., Petlichkovski A., De Rubeis S., Buxbaum J., Ferrero G. B., Keller R., Brusco A.

المساهمون: Pavinato L., Trajkova S., Grosso E., Giorgio E., Bruselles A., Radio F.C., Pippucci T., Dimartino P., Tartaglia M., Petlichkovski A., De Rubeis S., Buxbaum J., Ferrero G.B., Keller R., Brusco A.

مصطلحات موضوعية: autism spectrum disorder, epilepsy, intellectual disability, Skraban-Deardorff, WDR26

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33675273; info:eu-repo/semantics/altIdentifier/wos/WOS:000625687400001; volume:185; issue:6; firstpage:1712; lastpage:1720; numberofpages:9; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/2318/1788792Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102040991

الإتاحة: https://doi.org/10.1002/ajmg.a.62157Test
http://hdl.handle.net/2318/1788792Test

المؤلفون: Popova-Labachevska M, Panovska-Stavridis I, Eftimov A, Kapedanovska Nestorovska A, Cevreska L, Ivanovski M, Ridova N, Trajkova S, Dimovski AJ

المصدر: Balkan Journal of Medical Genetics, Vol 22, Iss 2, Pp 31-36 (2019)

مصطلحات موضوعية: allele burden, jak2v617 mutation, myeloproliferative neoplasms (mpns), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1311-0160Test

الوصول الحر: https://doaj.org/article/2c38d23238de4936b1da294fbf181777Test

المؤلفون: Trajkova S., Di Gregorio E., Ferrero G. B., Carli D., Pavinato L., Delplancq G., Kuentz P., Brusco A.

المساهمون: Trajkova S., Di Gregorio E., Ferrero G.B., Carli D., Pavinato L., Delplancq G., Kuentz P., Brusco A.

مصطلحات موضوعية: Epileptic encephalopathy, Infantile spasm, Intellectual disability, LSD-CoREST, PHF21A, Potocki-Shaffer, SCNA, West syndrome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33126574; info:eu-repo/semantics/altIdentifier/wos/WOS:000592892000001; volume:10; issue:11; firstpage:1; lastpage:15; numberofpages:15; journal:BRAIN SCIENCES; http://hdl.handle.net/2318/1761391Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85094582385; https://www.mdpi.com/2076-3425/10/11/788Test

الإتاحة: https://doi.org/10.3390/brainsci10110788Test
http://hdl.handle.net/2318/1761391Test
https://www.mdpi.com/2076-3425/10/11/788Test

المؤلفون: Jolly, LA, Parnell, E, Gardner, AE, Corbett, MA, Perez-Jurado, LA, Shaw, M, Lesca, G, Keegan, C, Schneider, MC, Griffin, E, Maier, F, Kiss, C, Guerin, A, Crosby, K, Rosenbaum, K, Tanpaiboon, P, Whalen, S, Keren, B, McCarrier, J, Basel, D, Sadedin, S, White, SM, Delatycki, MB, Kleefstra, T, Kury, S, Brusco, A, Sukarova-Angelovska, E, Trajkova, S, Yoon, S, Wood, SA, Piper, M, Penzes, P, Gecz, J

العلاقة: NHMRC/628952; pii: 10.1038/s41525-020-00162-9; Jolly, L. A., Parnell, E., Gardner, A. E., Corbett, M. A., Perez-Jurado, L. A., Shaw, M., Lesca, G., Keegan, C., Schneider, M. C., Griffin, E., Maier, F., Kiss, C., Guerin, A., Crosby, K., Rosenbaum, K., Tanpaiboon, P., Whalen, S., Keren, B., McCarrier, J. ,. Gecz, J. (2020). Missense variant contribution to USP9X-female syndrome. NPJ GENOMIC MEDICINE, 5 (1), https://doi.org/10.1038/s41525-020-00162-9Test.; http://hdl.handle.net/11343/272389Test

الإتاحة: https://doi.org/10.1038/s41525-020-00162-9Test
http://hdl.handle.net/11343/272389Test

المؤلفون: Hiatt, S.M., Trajkova, S., Sebastiano, M.R., Partridge, E.C., Abidi, F.E., Anderson, A., Ansar, M., Antonarakis, S.E., Azadi, A., Bachmann-Gagescu, R., Bartuli, A., Benech, C., Berkowitz, J.L., Betti, M.J., Brusco, A., Cannon, A., Caron, G., Chen, Y., Cochran, M.E., Coleman, T.F., Crenshaw, M.M., Cuisset, L., Curry, C.J., Darvish, H., Demirdas, S., Descartes, M., Douglas, J., Dyment, D.A., Elloumi, H.Z., Ermondi, G., Faoucher, M., Farrow, E.G., Felker, S.A., Fisher, H., Hurst, ACE, Joset, P., Kelly, M.A., Kmoch, S., Leadem, B.R., Lyons, M.J., Macchiaiolo, M., Magner, M., Mandrile, G., Mattioli, F., McEown, M., Meadows, S.K., Medne, L., Meeks, NJL, Montgomery, S., Napier, M.P., Natowicz, M., Newberry, K.M., Niceta, M., Noskova, L., Nowak, C.B., Noyes, A.G., Osmond, M., Prijoles, E.J., Pugh, J., Pullano, V., Quélin, C., Rahimi-Aliabadi, S., Rauch, A., Redon, S., Reymond, A., Schwager, C.R., Sellars, E.A., Scheuerle, A.E., Shukarova-Angelovska, E., Skraban, C., Stolerman, E., Sullivan, B.R., Tartaglia, M., Thiffault, I., Uguen, K., Umaña, L.A., van Bever, Y., van der Crabben, S.N., van Slegtenhorst, M.A., Waisfisz, Q., Washington, C., Rodan, L.H., Myers, R.M., Cooper, G.M.

المصدر: American journal of human genetics, vol. 110, no. 2, pp. 215-227

مصطلحات موضوعية: Humans, Male, Female, Neurodevelopmental Disorders/genetics, Intellectual Disability/genetics, Phenotype, Gene Expression Regulation, Face, Nervous System Malformations, Nuclear Proteins/genetics, Histone Demethylases/genetics, X-linked intellectual disability, ZMYM3, chromatin modifiers, neurodevelopmental disorder, transcriptional coregulators

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36586412; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_A025F20DEEB6Test; urn:issn:0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.12.007Test
https://serval.unil.ch/notice/serval:BIB_A025F20DEEB6Test

المؤلفون: Trajkova, S., Stavridis, I. Panovska, Stojanovic, A., Petrusevska, G., Dukovski, D., Ivanovski, M., Veljanovska, A. Pivkova, Simjanovska, M. Popova, Cadievski, L., Cevreska, L.

المصدر: International Journal of Research in Medical Sciences; Vol 1, No 2 (2013): April-June 2013; 47-52 ; 2320-6012 ; 2320-6071

مصطلحات موضوعية: DLBL, Immunoblastic morphology, Rituximab, Prognosis

وصف الملف: application/pdf

العلاقة: https://www.msjonline.org/index.php/ijrms/article/view/2556/2423Test; https://www.msjonline.org/index.php/ijrms/article/view/2556Test

الإتاحة: https://www.msjonline.org/index.php/ijrms/article/view/2556Test