المؤلفون: Stenton, S., Tesarova, M., Sheremet, N.L., Catarino, C., Carelli, V., Ciara, E., Curry, K., Engvall, M., Fleming, L.R., Freisinger, P., Iwanicka-Pronicka, K., Jurkiewicz, E., Klopstock, T., Koenig, M.K., Kolářová, H., Kousal, B., Krylova, T., La Morgia, C., Nosková, L., Piekutowska-Abramczuk, D., Russo, S.N., Stránecký, V., Tóthová, I., Träisk, F., Prokisch, H.

المصدر: Brain 145, 1624-1631 (2022)

مصطلحات موضوعية: Dnajc30, Lhon, Leigh Syndrome, Mitochondrial Disease

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/35148383; info:eu-repo/semantics/altIdentifier/wos/WOS:000790918400001; info:eu-repo/semantics/altIdentifier/isbn/0006-8950; info:eu-repo/semantics/altI; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64376; urn:isbn:0006-8950; urn:issn:0006-8950; urn:issn:1460-2156

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64376
https://doi.org/10.1093/brain/awac052

المؤلفون: Olahova M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stranecky V, Hartmannova H, Bleyer AJ, McBride KL, Bowden SA, Korandova Z, Pecinova A, Ropers H-H, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Ounap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mracek T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW

المصدر: Nature Communications, December 2021

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/273635; https://eprints.ncl.ac.uk/fulltext.aspx?url=273635/F8EC0CA8-CCAB-420B-BE86-43629CF61A76.pdf&pub_id=273635

الاتاحة: https://eprints.ncl.ac.uk/273635

المؤلفون: Dudakova, L, Stranecky, V, Piherova, L, Palecek, T, Pontikos, N, Kmoch, S, Skalicka, P, Vaneckova, M, Davidson, AE, Liskova, P

المصدر: Genes , 12 (5) , Article 677. (2021)

مصطلحات موضوعية: ZEB1, cornea, penetrance, loss-of-function

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10127286/1/genes-12-00677.pdf; https://discovery.ucl.ac.uk/id/eprint/10127286/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10127286/1/genes-12-00677.pdf
https://discovery.ucl.ac.uk/id/eprint/10127286/

المؤلفون: Kousal, B, Honzík, T, Hansíková, H, Ondrušková, N, Čechová, A, Tesařová, M, Stránecký, V, Meliška, M, Michaelides, M, Lišková, P

المصدر: Folia Biol (Praha) , 65 (3) pp. 134-141. (2019)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10085992/1/fb2019a0013.pdf; https://discovery.ucl.ac.uk/id/eprint/10085992/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10085992/1/fb2019a0013.pdf
https://discovery.ucl.ac.uk/id/eprint/10085992/

المؤلفون: Kubanek, M, Binova, J, Kotrc, M, Piherova, L, Stranecky, V, Palecek, T, Chaloupka, A, Krejci, J, Petrkova, J, Melenovsky, V, Kmoch, S, Kautzner, J

المصدر: European Heart Journal ; volume 39, issue suppl_1 ; ISSN 0195-668X 1522-9645

الاتاحة: https://doi.org/10.1093/eurheartj/ehy566.p6330
http://academic.oup.com/eurheartj/article-pdf/39/suppl_1/ehy566.P6330/25571351/ehy566.p6330.pdf

المؤلفون: Liskova, P., Dudakova, L., Stranecky, V., Hlavova, E., Vincent, A.

المصدر: Acta Ophthalmologica ; volume 95, issue S259 ; ISSN 1755-375X 1755-3768

الاتاحة: http://dx.doi.org/10.1111/j.1755-3768.2017.02784
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1755-3768.2017.02784
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1755-3768.2017.02784/fullpdf

المؤلفون: Kubanek, M., Krebsova, A., Piherova, L., Stranecky, V., Macek Jr, M., Kockova, R., Palecek, T., Malek, F., Melenovsky, V., Kmoch, S., Kautzner, J.

المصدر: European Heart Journal ; volume 38, issue suppl_1 ; ISSN 0195-668X 1522-9645

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الاتاحة: http://dx.doi.org/10.1093/eurheartj/ehx504.3946
http://academic.oup.com/eurheartj/article-pdf/38/suppl_1/ehx504.3946/19626850/ehx504.3946.pdf

المؤلفون: Peichl, P., Krebsova, A., Wichterle, D., Kubanek, M., Cihak, R., Yamagata, K., Aldhoon, B., Piherova, L., Norambuena, P., Stranecky, V., Kmoch, S., Macek, M., Kautzner, J.

المصدر: EP Europace ; volume 19, issue suppl_3, page iii253-iii253 ; ISSN 1099-5129 1532-2092

الاتاحة: https://doi.org/10.1093/ehjci/eux154.006
http://academic.oup.com/europace/article-pdf/19/suppl_3/iii253/17903356/eux154.006.pdf

المؤلفون: Davidson, A, Liskova, P, Evans, C, Dudakova, L, Nosková, L, Pontikos, N, Hartmannová, H, Hodaňová, K, Stránecký, V, Kozmík, Z, Levis, H, Idigo, N, Sasai, N, Maher, G, Bellingham, J, Veli, N, Ebenezer, N, Cheetham, M, Daniels, J, Thaung, C, Jirsova, K, Plagnol, V, Filipec, M, Kmoch, S, Tuft, S, Hardcastle, A

Relation: https://ora.ox.ac.uk/objects/uuid:c279790d-ef27-4b5a-ae1b-dc1b7839f79a; https://doi.org/10.1016/j.ajhg.2015.11.018

الاتاحة: https://doi.org/10.1016/j.ajhg.2015.11.018
https://ora.ox.ac.uk/objects/uuid:c279790d-ef27-4b5a-ae1b-dc1b7839f79a

المؤلفون: Davidson, AE, Liskova, P, Evans, CJ, Dudakova, L, Nosková, L, Pontikos, N, Hartmannová, H, Hodaňová, K, Stránecký, V, Kozmík, Z, Levis, HJ, Idigo, N, Sasai, N, Maher, GJ, Bellingham, J, Veli, N, Ebenezer, ND, Cheetham, ME, Daniels, JT, Thaung, CM, Jirsova, K, Plagnol, V, Filipec, M, Kmoch, S, Tuft, SJ, Hardcastle, AJ

المصدر: American Journal of Human Genetics , 98 (1) pp. 75-89. (2016)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1476569/1/1-s2.0-S0002929715004899-main.pdf; https://discovery.ucl.ac.uk/id/eprint/1476569/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1476569/1/1-s2.0-S0002929715004899-main.pdf
https://discovery.ucl.ac.uk/id/eprint/1476569/

المؤلفون: Stránecký, V., Neřoldová, M., Hodaňová, K., Hartmannová, H., Piherová, L., Zemánková, P., Přistoupilová, A., Vrablík, M., Adámková, V., Kmoch, S., Jirsa, M.

المصدر: Physiological research | 2016 Volume:65 | Number:6

الاتاحة: http://data.europeana.eu/aggregation/europeana/336/uuid_9f3c91c6_df18_496c_be5f_c762626085c3

المؤلفون: Kousal, B., Honzík, T., Hansíková, H., Ondrušková, N., Čechová, A., Tesařová, M., Stránecký, V., Meliška, M., Michaelides, M., Lišková, P.

المصدر: Folia biologica | 2019 Volume:65 | Number:3

الاتاحة: http://data.europeana.eu/aggregation/europeana/336/uuid_2df75c68_0dd1_404b_a1b2_324d57d8be07

المؤلفون: Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I. M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., Piherová, L., Kuchař, L., Baxová, A., Chen, R., Barsottini, O. G. P., Pyle, A., Griffin, H., Splitt, M., Sallum, J., Tolmie, J. L., Sampson, J. R., Chinnery, P., Boycott, Kym, MacKenzie, Alex, Brudno, Michael, Bulman, Dennis, Dyment, David, Banin, E., Sharon, D., Dutta, S., Grebler, R., Helfrich-Foerster, C., Pedroso, J. L., Kretzschmar, D., Cayouette, M., Koenekoop, R. K.

المصدر: Nature Communications ; volume 6, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/ncomms6614
https://www.nature.com/articles/ncomms6614.pdf
https://www.nature.com/articles/ncomms6614

المؤلفون: Lahrouchi, N., Postma, A.V., Salazar, C.M., Laughter, D.M. de, Tjong, F., Piherova, L., Bowling, F.Z., Zimmerman, D., Lodder, E.M., Ta-Shma, A., Perles, Z., Beekman, L., Ilgun, A., Gunst, Q., Hababa, M., Skoric-Milosavljevic, D., Stranecky, V., Tomek, V., Knijff, P. de, Leeuw, R. de, Robinson, J.Y., Burn, S.C., Mustafa, H., Ambrose, M., Moss, T., Jacober, J., Niyazov, D.M., Wolf, B., Kim, K.H., Cherny, S., Rousounides, A., Aristidou-Kallika, A., Tanteles, G., Ange-Line, B., Denomme-Pichon, A.S., Francannet, C., Ortiz, D., Haak, M.C., Harkel, A.D.J. ten, Manten, G.T.R., Dutman, A.C., Bouman, K., Magliozzi, M., Radio, F.C., Santen, G.W.E., Herkert, J.C., Brown, H.A., Elpeleg, O., Hoff, M.J.B. van den, Mulder, B., Airola, M.V., Kmoch, S., Barnett, J.V., Clur, S.A., Frohman, M.A., Bezzina, C.R.

المصدر: Journal of Clinical Investigation

وصف الملف: application/pdf

Relation: http://www.jci.org/articles/view/142148/files/pdf; lumc-id: 120550710; https://hdl.handle.net/1887/3213006

الاتاحة: https://hdl.handle.net/1887/3213006
http://www.jci.org/articles/view/142148/files/pdf
https://doi.org/10.1172/JCI142148

المؤلفون: Peichl, P, Krebsova, A, Wichterle, D, Piherova, L, Norambuena, P, Stranecky, V, Kmoch, S, Macek, M, Cihak, R, Kautzner, J

المصدر: European Heart Journal ; volume 42, issue Supplement_1 ; ISSN 0195-668X 1522-9645

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الاتاحة: http://dx.doi.org/10.1093/eurheartj/ehab724.0662
https://academic.oup.com/eurheartj/article-pdf/42/Supplement_1/ehab724.0662/41049859/ehab724.0662.pdf

المؤلفون: Hruba, P., Brabcova, I., Krejcik, Z., Stranecky, V., Honsova, E., Viklicky, O., Rocchetti, M. T., Pontrelli, P., Rascio, F., Fiorentino, M., Stallone, G., Gesualdo, L., Grandaliano, G., Lemy, A., Lionet, A., Noel, C., Couzi, L., Taupin, J.-L., Merville, P., Hiesse, C., Suberbielle-Boissel, C., De Meyer, M., Latinne, D., Racape, J., Wissing, K. M., Claas, F. H. J., Toungouz, M., Abramowicz, D., Caballero, A., Ruiz-Esteban, P., Leon, M., Palma-Merida, E., Burgos, D., Cabello, M., Gonzalez-Molina, M., Torres, A., Hernandez, D., Janssen, E. H. C. C., Ledeganck, K. J., Hoenderop, J. G. J., Verpooten, G. A. L., De Winter, B. Y.

المصدر: Nephrology Dialysis Transplantation ; volume 28, issue suppl 1, page i14-i15 ; ISSN 0931-0509 1460-2385

الاتاحة: https://doi.org/10.1093/ndt/gft146
http://academic.oup.com/ndt/article-pdf/28/suppl_1/i14/7637397/gft146.pdf

المؤلفون: Kovarova, N., Cizkova - Vrbacka, A., Pecina, P., Stranecky, V., Pronicka, E., Kmoch, S., Houstek, J.

المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics ; volume 1817, page S69 ; ISSN 0005-2728

الاتاحة: http://dx.doi.org/10.1016/j.bbabio.2012.06.195
https://api.elsevier.com/content/article/PII:S0005272812003805?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0005272812003805?httpAccept=text/plain

المؤلفون: Kubanek, M, Schimerova, T, Piherova, L, Krebsova, A, Hansikova, H, Zeman, J, Palecek, T, Houstek, J, Zamecnik, J, Macek Jr, M, Ridzon, P, Stranecky, V, Kmoch, S, Melenovsky, V, Kautzner, J

المصدر: European Heart Journal ; volume 40, issue Supplement_1 ; ISSN 0195-668X 1522-9645

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الاتاحة: http://dx.doi.org/10.1093/eurheartj/ehz746.0047
http://academic.oup.com/eurheartj/article-pdf/40/Supplement_1/ehz746.0047/30200765/ehz746.0047.pdf

المؤلفون: Chaloupka, A, Krejci, J, Piherova, L, Grochova, I, Binova, J, Stranecky, V, Kmoch, S, Spinarova, L, Kubanek, M

المصدر: European Heart Journal ; volume 40, issue Supplement_1 ; ISSN 0195-668X 1522-9645

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الاتاحة: http://dx.doi.org/10.1093/eurheartj/ehz746.1044
http://academic.oup.com/eurheartj/article-pdf/40/Supplement_1/ehz746.1044/30203371/ehz746.1044.pdf

المؤلفون: Bolar, N.A., Golzio, C., Zivna, M., Hayot, G., Hemelrijk, C. van, Schepers, D., Vandeweyer, G., Hoischen, A., Huyghe, J.R., Raes, A., Matthys, E., Sys, E., Azou, M., Gubler, M.C., Praet, M., Van Camp, G., McFadden, K., Pediaditakis, I., Pristoupilova, A., Hodanova, K., Vyletal, P., Hartmannova, H., Stranecky, V., Hulkova, H., Baresova, V., Jedlickova, I., Sovova, J., Hnizda, A., Kidd, K., Bleyer, A.J., Spong, R.S., Vande Walle, J., Mortier, G., Brunner, H.G., Van Laer, L., Kmoch, S., Katsanis, N., Loeys, B.L.

المصدر: American Journal of Human Genetics, 99, 1, pp. 174-87

مصطلحات موضوعية: Radboudumc 0: Other Research RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/167296/167296.pdf; http://hdl.handle.net/2066/167296

الاتاحة: http://hdl.handle.net/2066/167296
https://repository.ubn.ru.nl//bitstream/handle/2066/167296/167296.pdf
https://doi.org/10.1016/j.ajhg.2016.05.028