المؤلفون: Haack, TB, Ignatius, E, Calvo-Garrido, J, Iuso, A, Isohanni, P, Maffezzini, C, Lonnqvist, T, Suomalainen, A, Gorza, M, Kremer, LS, Graf, E, Hartig, M, Berutti, R, Paucar, M, Svenningsson, P, Stranneheim, H, Brandberg, G, Wedell, A, Kurian, MA, Hayflick, SA, Venco, P, Tiranti, V, Strom, TM, Dichgans, M, Horvath, R, Holinski-Feder, E, Freyer, C, Meitinger, T, Prokisch, H, Senderek, J, Wredenberg, A, Carroll, CJ, Klopstock, T

المصدر: American journal of human genetics. 99(3):735-743

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:134264355

المؤلفون: Laake, K, Jansen, L, Hahnemann, JM, Brondum-Nielsen, K, Lonnqvist, T, Kaariainen, H, Sankila, R, Lahdesmaki, A, Hammarstrom, L, Yuen, J, Tretli, S, Heiberg, A, Olsen, JH, Tucker, M, Kleinerman, R, Borresen-Dale, AL

المصدر: Human mutation. 16(3):232-246

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1959189

المؤلفون: Sofou, K, de Coo, IFM, Ostergaard, E, Isohanni, P, Naess, K, De Meirleir, L, Tzoulis, C, Uusimaa, J, Lonnqvist, T, Bindoff, LA, Tulinius, M, Darin, N

المصدر: Journal of medical genetics. 55(1):21-27

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137275848

المؤلفون: Banerjee, JS, Heyman, M, Palomaki, M, Lahteenmaki, P, Arola, M, Riikonen, PV, Mottonen, MI, Lonnqvist, T, Taskinen, MH, Harila-Saari, AH

المصدر: Journal of pediatric hematology/oncology. 40(1):E13-E18

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137992208

المؤلفون: Wibroe, M, Cappelen, J, Castor, C, Clausen, N, Grillner, P, Gudrunardottir, T, Gupta, R, Gustavsson, B, Heyman, M, Holm, S, Karppinen, A, Klausen, C, Lonnqvist, T, Mathiasen, R, Nilsson, P, Nysom, K, Persson, K, Rask, O, Schmiegelow, K, Sehested, A, Thomassen, H, Tonning-Olsson, I, Zetterqvist, B, Juhler, M

المصدر: BMC cancer. 17(1):439

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:136056137

المؤلفون: Lehtonen, J. M., Auranen, M., Darin, Niklas, 1964, Sofou, Kalliopi, Bindoff, L., Hikmat, O., Uusimaa, J., Vieira, P., Tulinius, Mar, 1953, Lonnqvist, T., de Coo, I. F., Suomalainen, A., Isohanni, P.

المصدر: Journal of Inherited Metabolic Disease. 44(2):469-480

مصطلحات موضوعية: Endocrinology and Diabetes, Endokrinologi och diabetes, Cell and Molecular Biology, Cell- och molekylärbiologi, Neurology, Neurologi, diagnostics of mitochondrial disease, FGF21, GDF15, mitochondrial, disease, muscle biopsy, differentiation factor 15, fgf21 levels, biomarker, prevalence, association, disorders, factor-15, fgf-21, gdf15, Endocrinology & Metabolism, Genetics & Heredity, Research & Experimental, Medicine

URL الوصول: https://gup.ub.gu.se/publication/297274

المؤلفون: Porkholm, M, Valanne, L, Lonnqvist, T, Holm, S, Lannering, B, Riikonen, P, Wojcik, D, Sehested, A, Clausen, N, Harila-Saari, A, Schomerus, E, Thorarinsdottir, HK, Lahteenmaki, P, Arola, M, Thomassen, H, Saarinen-Pihkala, UM, Kivivuori, SM

المصدر: Pediatric blood & cancer. 61(9):1603-1609

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129590848

المؤلفون: Sofou, K, De Coo, IFM, Isohanni, P, Ostergaard, E, Naess, K, De Meirleir, L, Tzoulis, C, Uusimaa, J, De Angst, IB, Lonnqvist, T, Pihko, H, Mankinen, K, Bindoff, LA, Tulinius, M, Darin, N

المصدر: Orphanet journal of rare diseases. 9:52

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:128868815

المؤلفون: Olsen, JH, Hahnemann, JM, Borresen-Dale, AL, Brondum-Nielsen, K, Hammarstrom, L, Kleinerman, R, Kaatriainen, H, Lonnqvist, T, Sankila, R, Seersholm, N, Tretli, S, Yuen, J, Boice, JD, Tucker, M

المصدر: Journal of the National Cancer Institute. 93(2):121-127

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1942584

المؤلفون: Banerjee, J, Niinimaki, R, Lahteenmaki, P, Myrberg, IH, Arola, M, Riikonen, P, Lonnqvist, T, Palomaki, M, Ranta, S, Harila-Saari, A, Taskinen, M

المصدر: Pediatric blood & cancer. 67(2):e27999

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142212098

المؤلفون: Ylikallio, E., Poyhonen, R., Zimon, M., De Vriendt, E., Hilander, T., Paetau, A., Jordanova, A., Lonnqvist, T., Tyynismaa, H.

المصدر: Human Molecular Genetics ; volume 22, issue 15, page 2975-2983 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddt149
http://academic.oup.com/hmg/article-pdf/22/15/2975/1838909/ddt149.pdf

المؤلفون: Lonnqvist, T., Paetau, A., Valanne, L., Pihko, H.

المصدر: Brain ; volume 132, issue 6, page 1553-1562 ; ISSN 0006-8950 1460-2156

الاتاحة: https://doi.org/10.1093/brain/awp045
http://academic.oup.com/brain/article-pdf/132/6/1553/921254/awp045.pdf

المؤلفون: Laakkonen, H., Holtta, T., Lonnqvist, T., Holmberg, C., Ronnholm, K.

المصدر: Nephrology Dialysis Transplantation ; volume 23, issue 5, page 1747-1753 ; ISSN 0931-0509 1460-2385

الاتاحة: https://doi.org/10.1093/ndt/gfn035
http://academic.oup.com/ndt/article-pdf/23/5/1747/7630704/gfn035.pdf

المؤلفون: Hakonen, A. H., Isohanni, P., Paetau, A., Herva, R., Suomalainen, A., Lonnqvist, T.

المصدر: Brain ; volume 130, issue 11, page 3032-3040 ; ISSN 0006-8950 1460-2156

الاتاحة: https://doi.org/10.1093/brain/awm242
http://academic.oup.com/brain/article-pdf/130/11/3032/950540/awm242.pdf

المؤلفون: Lonnqvist, T., Tyynismaa, H., Ylikallio, E., Woldegebriel, R., Tumiati, M., Isohanni, P., Ryan, M. M., Stark, Z., Maie, W., Sawyer, S. L., Bell, K. M., Oshlack, A., Lockhart, P. L., Shcherbii, M., Estrada-Cuzcano, A., Atkinson, D., Hartley, T., Tetreault, M., Cuppen, I., van der Pol, W. L., Candayan, A., Battaloglu, E., van Gassen, K. L. I., van den Boogaard, M. H., Boycott, K. M., Kauppi, L., Jordanova, A., Parman, Y.

المساهمون: University Of Helsinki ,, 154878

مصطلحات موضوعية: GENETİK VE HAYAT, BİYOKİMYA VE MOLEKÜLER BİYOLOJİ, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri (LIFE), Tıbbi Genetik, Yaşam Bilimleri, Sitogenetik, Temel Bilimler, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri

Relation: Ylikallio E., Woldegebriel R., Tumiati M., Isohanni P., Ryan M. M. , Stark Z., Maie W., Sawyer S. L. , Bell K. M. , Oshlack A., et al., "MCM3AP in recessive axonal neuropathy and mild intellectual disability", 50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.40-41; vv_1032021; av_ac27ee70-e18e-46b0-8f23-4d9a2ecefa19; http://hdl.handle.net/20.500.12627/114889; 26

الاتاحة: https://hdl.handle.net/20.500.12627/114889

المؤلفون: Reijnders, M.R.F., Janowski, R., Alvi, M., Self, J.E., Essen, T.J. van, Vreeburg, M., Rouhl, R.P.W., Stevens, S.J.C., Stegmann, A.P.A., Schieving, J.H., Pfundt, R.P., Dijk, K van, Smeets, E., Stumpel, C., Bok, L.A, Cobben, J.M., Engelen, M., Mansour, S., Whiteford, M., Chandler, K.E., Douzgou, S., Cooper, N.S., Tan, Ene-Choo, Foo, R., Lai, A.H., Rankin, J., Green, A., Lonnqvist, T., Isohanni, P., Williams, S., Ruhoy, I., Carvalho, K.S., Dowling, J.J., Lev, D.L., Sterbova, K., Lassuthova, P., Neupauerova, J., Waugh, J.L., Keros, S., Clayton-Smith, J., Smithson, S.F., Brunner, H.G., Hoeckel, C. van, Anderson, M., Clowes, V.E., Siu, V.M., Study, T. Ddd, Selber, P., Leventer, R.J., Nellaker, C., Niessing, D., Hunt, D., Baralle, D.

المصدر: Journal of Medical Genetics, 55, 2, pp. 104-113

مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/190731/190731.pdf; http://hdl.handle.net/2066/190731

الاتاحة: http://hdl.handle.net/2066/190731
https://repository.ubn.ru.nl//bitstream/handle/2066/190731/190731.pdf
https://doi.org/10.1136/jmedgenet-2017-104946

المؤلفون: Roine, U., Roine, Timo, Hakkarainen, A., Tokola, A., Balk, M. H., Mannerkoski, M., Aberg, L. E., Lonnqvist, T., Autti, T.

المصدر: 0195-6108 ; American journal of neuroradiology

مصطلحات موضوعية: Human medicine, Computer. Automation

Relation: info:eu-repo/semantics/altIdentifier/isi/000437283900031

الاتاحة: https://hdl.handle.net/10067/1524600151162165141

المؤلفون: Nguyen, TTM, Murakami, Y, Sheridan, E, Ehresmann, S, Rousseau, J, St-Denis, A, Chai, G, Ajeawung, NF, Fairbrother, L, Reimschisel, T, Bateman, A, Berry-Kravis, E, Xia, F, Tardif, J, Parry, DA, Logan, CV, Diggle, C, Bennett, CP, Hattingh, L, Rosenfeld, JA, Perry, MS, Parker, MJ, Le Deist, F, Zaki, MS, Ignatius, E, Isohanni, P, Lonnqvist, T, Carroll, CJ, Johnson, CA, Gleeson, JG, Kinoshita, T, Campeau, PM

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/122979/3/Mutations%20in%20GPAA_Oct%2014.pdf; Nguyen, TTM, Murakami, Y, Sheridan, E orcid.org/0000-0002-7237-6280 et al. (29 more authors) (2017) Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. American Journal of Human Genetics, 101 (5). pp. 856-865. ISSN 0002-9297

الاتاحة: https://eprints.whiterose.ac.uk/122979/
https://eprints.whiterose.ac.uk/122979/3/Mutations%20in%20GPAA_Oct%2014.pdf

المؤلفون: Isohanni, P., Linnankivi, T., Buzkova, J., Lonnqvist, T., Pihko, H., Valanne, L., Tienari, P. J., Elovaara, I., Pirttila, T., Reunanen, M., Koivisto, K., Marjavaara, S., Suomalainen, A.

المصدر: Journal of Medical Genetics ; volume 47, issue 1, page 66-70 ; ISSN 0022-2593 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.2009.068221
https://syndication.highwire.org/content/doi/10.1136/jmg.2009.068221

المؤلفون: Remes, T, Suo-Palosaari, M, Ritari, N, Puosi, R, Koskenkorva, P, Sutela, A, Toiviainen-Salo, SM, Arikoski, P, Arola, M, Hoven, E, Lahteenmaki, P, Lonnqvist, T, Riikonen, P, Sirkia, K, Rantala, H, Harila, M, Ojaniemi, M, Harila-Saari, A

المصدر: NEURO-ONCOLOGY. 22:433-433

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145697499