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pro vyhledávání: '"Stark, Z."'
Akademický článek
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Autor:
Stark, Z, Delatycki, M
Publikováno v:
Journal of Medical Ethics, 2014 Jun 01. 40(6), 387-388.
Externí odkaz:
https://www.jstor.org/stable/43283020
Autor:
Stolz, J.R., Foote, K.M., Veenstra-Knol, H.E., Pfundt, R., Broeke, S.W. ten, Leeuw, N. de, Roht, L., Pajusalu, S., Part, R., Rebane, I., Ounap, K., Stark, Z., Kirk, E.P., Lawson, J.A., Lunke, S., Christodoulou, J., Louie, R.J., Rogers, R.C., Davis, J.M., Innes, A.M., Wei, X.C., Keren, B., Mignot, C., Lebel, R.R., Sperber, S.M., Sakonju, A., Dosa, N., Barge-Schaapveld, D.Q.C.M., Peeters-Scholte, C.M.P.C.D., Ruivenkamp, C.A.L., Bon, B.W. van, Kennedy, J., Low, K.J., Ellard, S., Pang, L.W., Junewick, J.J., Mark, P.R., Carvill, G.L., Swanson, G.T.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::dfce94aba2dcb4d3e32ea042fd9139d1
https://hdl.handle.net/1887/3264402
https://hdl.handle.net/1887/3264402
Autor:
Lee, R.G., Balasubramaniam, S., Stentenbach, M., Kralj, T., McCubbin, T., Padman, B., Smith, J., Riley, L.G., Priyadarshi, A., Peng, L.Y., Nuske, M.R., Webster, R., Peacock, K., Roberts, P., Stark, Z., Lemire, G., Ito, Y.A., Boycott, K.M., Geraghty, M.T., Klinken, J.B., Ferdinandusse, S., Zhou, Y., Walsh, R., Marcellin, E., Thorburn, D.R., Rosciolli, T., Fletcher, J., Rackham, O., Vaz, F.M., Reid, G.E., Filipovska, A., Care4Rare Canada Consortium
Publikováno v:
Human Molecular Genetics, 31(21), 3597-3612. OXFORD UNIV PRESS
Human molecular genetics, 31(21), 3597-3612. Oxford University Press
Human molecular genetics, 31(21), 3597-3612. Oxford University Press
Mitochondrial diseases are a group of inherited diseases with highly varied and complex clinical presentations. Here, we report four individuals, including two siblings, affected by a progressive mitochondrial encephalopathy with biallelic variants i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19e79bac1d14fa395f9b21de73859fd0
https://pubmed.ncbi.nlm.nih.gov/36563328
https://pubmed.ncbi.nlm.nih.gov/36563328
Individuals with dyslexia present with reading-related deficits including slow reading speed, and worse text comprehension and word encoding. Reports of visual symptoms such as atypical eye movements during reading gave rise to a search for these def
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61306b38e3626f4690738b8ea374cb5e
https://doi.org/10.31234/osf.io/m8xwr
https://doi.org/10.31234/osf.io/m8xwr
Autor:
Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T.Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J.L., McCormick, E., Hakonarson, H., Falk, M.J., Li, D., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C.A.L., Nibbeling, E., Dingemans, A.J.M., Douine, E.D., Nelson, S.F., Hempel, M., Bierhals, T., Lessel, D., Johannsen, J., Arboleda, V.A., Newbury-Ecob, R., DDD Study
Publikováno v:
Genetics in Medicine, 22(11), 1920-1920. NATURE PUBLISHING GROUP
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b215076ffb7ac5e70c346089be959f25
https://doi.org/10.1038/s41436-020-00944-7
https://doi.org/10.1038/s41436-020-00944-7
Autor:
Jensen, L.R., Garrett, L., Hölter, S.M., Rathkolb, B., Rácz, I., Adler, T., Prehn, C., Hans, W., Rozman, J., Becker, L., Aguilar-Pimentel, J.A., Puk, O., Moreth, K., Dopatka, M., Walther, D.J., Bohlen und Halbach, V. von, Rath, M., Delatycki, M., Bert, B., Fink, H., Blümlein, K., Ralser, M., Dijck, A. van, Kooy, F., Stark, Z., Müller, S., Scherthan, H., Gecz, J., Wurst, W., Wolf, E., Zimmer, A., Klingenspor, M., Graw, J., Klopstock, T., Busch, D., Adamski, J., Fuchs, H., Gailus-Durner, V., Hrabe de Angelis, M., Bohlen und Halbach, O. von, Ropers, H.-H., Kuss, A.W.
Mutations in the X chromosomal tRNA 2'‑O‑methyltransferase FTSJ1 cause intellectual disability (ID). Although the gene is ubiquitously expressed affected individuals present no consistent clinical features beyond ID. In order to study the patholo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______610::9e7e65a723b876eb79d363ae80f014bc
https://publica.fraunhofer.de/handle/publica/258644
https://publica.fraunhofer.de/handle/publica/258644
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Yates, T.M., Vasudevan, P.C., Chandler, K.E., Donnelly, D.E., Stark, Z., Sadedin, S., Willoughby, J., Balasubramanian, M.
Exome sequencing in the context of developmental disorders is a useful technique, but variants found need to be interpreted in the context of detailed phenotypic information. Whole gene deletions and loss-of-function-mutations in the HNRNPU gene have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::538587a2d75518ca16899fc3ff4065fd
Autor:
Walsh, M, Bell, KM, Chong, B, Creed, E, Brett, GR, Pope, K, Thorne, NP, Sadedin, S, Georgeson, P, Phelan, DG, Day, T, Taylor, JA, Sexton, A, Lockhart, PJ, Kiers, L, Fahey, M, Macciocca, I, Gaff, CL, Oshlack, A, Yiu, EM, James, PA, Stark, Z, Ryan, MM, Melbourne Genomics Health Alliance
OBJECTIVE: To explore the diagnostic utility and cost effectiveness of whole exome sequencing (WES) in a cohort of individuals with peripheral neuropathy. METHODS: Singleton WES was performed in individuals recruited though one pediatric and one adul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______363::42266b646e714c449a44613f76da6561
https://hdl.handle.net/10453/161431
https://hdl.handle.net/10453/161431