المؤلفون: POUROVA R, JANOUSEK P, JUROVCIK M, DVORAKOVA M, MALIKOVA M, RASKOVA D, BENDOVA O, KABELKA Z, ASTL J, SEEMAN P., LEONARDI, EMANUELA, MURGIA, ALESSANDRA

المساهمون: Pourova, R, Janousek, P, Jurovcik, M, Dvorakova, M, Malikova, M, Raskova, D, Bendova, O, Leonardi, Emanuela, Murgia, Alessandra, Kabelka, Z, Astl, J, Seeman, P.

مصطلحات موضوعية: Deafness,EVA,hearing loss,MLPA,Pendred,SLC26A4

Relation: info:eu-repo/semantics/altIdentifier/pmid/20597900; info:eu-repo/semantics/altIdentifier/wos/WOS:000278914200002; volume:74; firstpage:299; lastpage:307; journal:ANNALS OF HUMAN GENETICS; http://hdl.handle.net/11577/2466005; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77954780222

الاتاحة: http://hdl.handle.net/11577/2466005
https://doi.org/10.1111/j.1469-1809.2010.00581.x

المؤلفون: HILGERT N, HUENTELMAN M. J, THORBURN A. Q, DIELTJENS N, WALIGORA J, PLOSKI R, POLLAK A, CASTORINA P, ORZAN E, PANDYA A, HUNT W, SEEMAN P, BENDOVA O, FELDMANN D, MARLIN S, DENOYELLE F, SMITH RJH, NISHIMURA CJ, JANECKE A, MENUCCI E, TÓTH T, SZIKLAI I, DEL CASTILLO I, MORENO F, PETERSEN MB, TEKIN M, INCESULU A, NOWAKOWSKA E, BAL J, VAN DE HEYNING P, ROUX AF, BLANCHET C, GOIZET C, LASSEAUX E, CÉU C, FIALHO G, LIU X, XIAOMEI O, GOVAERTS P, GRà ̃NSKOV K, HOSTMARK K, FREI K, DHOOGE I, VLAEMINCK S, KUNSTMANN E, VAN CAMP G., MURGIA, ALESSANDRA, MARTINI, ALESSANDRO

المساهمون: Hilgert, N, HUENTELMAN M., J, THORBURN A., Q, Dieltjens, N, Waligora, J, Ploski, R, Pollak, A, Castorina, P, Murgia, Alessandra, Orzan, E, Pandya, A, Hunt, W, Seeman, P, Bendova, O, Feldmann, D, Marlin, S, Denoyelle, F, Smith, Rjh, Nishimura, Cj, Janecke, A, Martini, Alessandro, Menucci, E, TÓTH, T, Sziklai, I, DEL CASTILLO, I, Moreno, F, Petersen, Mb, Tekin, M, Incesulu, A, Nowakowska, E, Bal, J, VAN DE HEYNING, P, Roux, Af, Blanchet, C, Goizet, C, Lasseaux, E, CÉU, C, Fialho, G, Liu, X, Xiaomei, O, Govaerts, P, Grã ̃nskov, K, Hostmark, K, Frei, K, Dhooge, I, Vlaeminck, S, Kunstmann, E, VAN CAMP, G.

Relation: info:eu-repo/semantics/altIdentifier/pmid/18985073; info:eu-repo/semantics/altIdentifier/wos/WOS:000264354900015; volume:17; firstpage:517; lastpage:524; numberofpages:8; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/2267673; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-62849118980

الاتاحة: http://hdl.handle.net/11577/2267673
https://doi.org/10.1038/ejhg.2008.201

المؤلفون: Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller Malesinska M, Pollak A, Ploski R, Orzan E, Castorina P, Ambrosetti U, Nowakowska Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Lina Granade G, Pallares Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G., MURGIA, ALESSANDRA, MARTINI, ALESSANDRO

المساهمون: Snoeckx, Rl, Huygen, Pl, Feldmann, D, Marlin, S, Denoyelle, F, Waligora, J, Mueller Malesinska, M, Pollak, A, Ploski, R, Murgia, Alessandra, Orzan, E, Castorina, P, Ambrosetti, U, Nowakowska Szyrwinska, E, Bal, J, Wiszniewski, W, Janecke, Ar, Nekahm Heis, D, Seeman, P, Bendova, O, Kenna, Ma, Frangulov, A, Rehm, Hl, Tekin, M, Incesulu, A, Dahl, Hh, du Sart, D, Jenkins, L, Lucas, D, Bitner Glindzicz, M, Avraham, Kb, Brownstein, Z, del Castillo, I, Moreno, F, Blin, N, Pfister, M, Sziklai, I, Toth, T, Kelley, Pm, Cohn, E, Van Maldergem, L, Hilbert, P, Roux, Af, Mondain, M, Hoefsloot, Lh, Cremers, Cw, Löppönen, T, Löppönen, H, Parving, A, Gronskov, K, Schrijver, I, Roberson, J, Gualandi, F, Martini, Alessandro, Lina Granade, G, Pallares Ruiz, N, Correia, C, Fialho, G, Cryns, K, Hilgert, N, Van de Heyning, P, Nishimura, Cj, Smith, Rj, Van Camp, G.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/16380907; info:eu-repo/semantics/altIdentifier/wos/WOS:000233241200005; volume:77; firstpage:945; lastpage:957; numberofpages:13; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/1424715; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-28144444402

الاتاحة: http://hdl.handle.net/11577/1424715

المؤلفون: SNOECKX R.L., HUYGEN P., FELDMAN D., MARLIN S., DENOYELLE F., WALIGORA J., MUELER MALESINSKA M., P.O.L.L.A.K. A., PLOSKI R., MURGIA A., ORZAN E., CASTORINA P., AMBROSETTI U., NOWAKOWSKA E., BAL J., WISZNIEWSKI W., JENECKE A.R., NEKAHM HEIS D., SEEMAN P., BENDOVA O., KENNA M.A., FRANGULOVA, REHM H.L., TEKIN M., INCESULU A., DAHL H.M., DU SART D., JENKINS L., LUCAS D., BITNER M., AVRAHAM K.B., BROWNSTEIN Z., DEL CASTILO I., MORENO F., BLIN N., PFISTER M., SZIKLAI I., TOTH T., KELLEY P., COHN E., VAN MELGERDEM L., HILBERT P., ROUX A., MONDAIN M., HOESFLOT L., CREMERS C., LOPPONEN T., LOPPONEN H., PAVING A., GRONSKOV K., SCHRIJVER I., ROBERSON J., GUALANDI F., LINA GRANADE G., PALLARES RUIZ N., CORREIA C., FIALHO G., CRYNS K., HILGERT N., VEN DE HEINING P., NISHIMURA C., SMITH R., VAN CAMP G., MARTINI, Alessandro

المساهمون: Snoeckx, R. L., Huygen, P., Feldman, D., Marlin, S., Denoyelle, F., Waligora, J., MUELER MALESINSKA, M., P. O. L. L. A. K., A., Ploski, R., Murgia, A., Orzan, E., Castorina, P., Ambrosetti, U., Nowakowska, E., Bal, J., Wiszniewski, W., Jenecke, A. R., NEKAHM HEIS, D., Seeman, P., Bendova, O., Kenna, M. A., Frangulova, Rehm, H. L., Tekin, M., Incesulu, A., Dahl, H. M., DU SART, D., Jenkins, L., Lucas, D., Bitner, M., Avraham, K. B., Brownstein, Z., DEL CASTILO, I., Moreno, F., Blin, N., Pfister, M., Sziklai, I., Toth, T., Kelley, P., Cohn, E., VAN MELGERDEM, L., Hilbert, P., Roux, A., Mondain, M., Hoesflot, L., Cremers, C., Lopponen, T., Lopponen, H., Paving, A., Gronskov, K., Schrijver, I., Roberson, J., Gualandi, F., Martini, Alessandro, LINA GRANADE, G., PALLARES RUIZ, N., Correia, C., Fialho, G., Cryns, K., Hilgert, N., VEN DE HEINING, P., Nishimura, C., Smith, R., VAN CAMP, G.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000233241200005; volume:77; issue:6; firstpage:945; lastpage:957; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11392/1205859; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-28144444402

الاتاحة: http://hdl.handle.net/11392/1205859
https://doi.org/10.1086/497996

المؤلفون: Seeman, P., Bendová, O., Rašková, D., Malíková, M., Groh, D., Kabelka, Z.

المصدر: Annals of Human Genetics ; volume 69, issue 1, page 9-14 ; ISSN 0003-4800 1469-1809

الاتاحة: http://dx.doi.org/10.1046/j.1529-8817.2003.00120.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1529-8817.2003.00120.x
https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1529-8817.2003.00120.x
https://onlinelibrary.wiley.com/doi/full-xml/10.1046/j.1529-8817.2003.00120.x

المؤلفون: Seeman, P, Malíková, M, Rašková, D, Bendová, O, Groh, D, Kubálková, M, Sakmaryová, I, Seemanová, E, Kabelka, Z

المصدر: Clinical Genetics ; volume 66, issue 2, page 152-157 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/j.1399-0004.2004.00283.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.2004.00283.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.2004.00283.x

المؤلفون: Janderová, B., Gášková, D., Bendová, O.

المصدر: Folia Microbiologica ; volume 40, issue 2, page 165-167 ; ISSN 0015-5632 1874-9356

الاتاحة: http://dx.doi.org/10.1007/bf02815416
http://link.springer.com/content/pdf/10.1007/BF02815416.pdf
http://link.springer.com/article/10.1007/BF02815416/fulltext.html
http://link.springer.com/content/pdf/10.1007/BF02815416

المؤلفون: Snoeckx, R.L., Huygen, P.L.M., Feldmann, D., Marlin, S., Denoyelle, F., Waligora, J., Mueller-Malesinska, M., Pollak, A., Ploski, R., Murgia, A., Orzan, E., Castorina, P., Ambrosetti, U., Nowakowska-Szyrwinska, E., Bal, J., Wiszniewski, W., Janecke, A.R., Nekahm-Heis, D., Seeman, P., Bendova, O., Kenna, M.A., Frangulov, A., Rehm, H.L., Tekin, M., Incesulu, A., Dahl, H.H., Sart, D. du, Jenkins, L., Lucas, D., Bitner-Glindzicz, M., Avraham, K.B., Brownstein, Z., Castillo, I. del, Moreno, F., Blin, N., Pfister, M., Sziklai, I., Toth, T., Kelley, P.M., Cohn, E.S., Maldergem, L. van, Hilbert, P., Roux, A.F., Mondain, M., Hoefsloot, L.H., Cremers, C.W.R.J., Lopponen, T., Lopponen, H., Parving, A., Gronskov, K., Schrijver, I., Roberson, J., Gualandi, F., Martini, A., Lina-Granade, G., Pallares-Ruiz, N., Correia, C., Fialho, G., Cryns, K., Hilgert, N., Heyning, P. van de, Nishimura, C.J., Smith, R.J.H., Camp, G. van

المصدر: American Journal of Human Genetics; 945; 57; 0002-9297; 6; 77; ~American Journal of Human Genetics~945~57~~~0002-9297~6~77~~

URL: http://hdl.handle.net/2066/47828
https://doi.org/10.1086/497996

المؤلفون: Janderová, B., Davaasurengijn, T., Vondrejs, V., Bendová, O.

المصدر: Journal of Basic Microbiology ; volume 26, issue 10, page 627-631 ; ISSN 0233-111X 1521-4028

الاتاحة: http://dx.doi.org/10.1002/jobm.3620261014
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fjobm.3620261014
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jobm.3620261014

المؤلفون: Bendová, O.

المصدر: Folia Microbiologica ; volume 31, issue 5, page 422-433 ; ISSN 0015-5632 1874-9356

الاتاحة: http://dx.doi.org/10.1007/bf02936607
http://link.springer.com/content/pdf/10.1007/BF02936607.pdf
http://link.springer.com/article/10.1007/BF02936607/fulltext.html
http://link.springer.com/content/pdf/10.1007/BF02936607

المؤلفون: Janderová, B., Davaasurengijn, T., Bendová, O.

المصدر: Folia Microbiologica ; volume 31, issue 4, page 339-343 ; ISSN 0015-5632 1874-9356

الاتاحة: http://dx.doi.org/10.1007/bf02926961
http://link.springer.com/content/pdf/10.1007/BF02926961.pdf
http://link.springer.com/article/10.1007/BF02926961/fulltext.html
http://link.springer.com/content/pdf/10.1007/BF02926961