المؤلفون: Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C.

المساهمون: Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J. -F., Delpu, Y., Avarello, M. D. M., Vijfhuizen, L. S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P. S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S. F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I. E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., Leguern, E., Klein, K. M., Labauge, P., Bennett, M. F., Bahlo, M., Gecz, J., Corbett, M. A., Tijssen, M. A. J., van den Maagdenberg, A. M. J. M., Depienne, C.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31664039; info:eu-repo/semantics/altIdentifier/wos/WOS:000493042500009; volume:10 - Article number: 4919 (2019); firstpage:4919; lastpage:4929; numberofpages:11; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11567/1022007Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074285073

الإتاحة: https://doi.org/10.1038/s41467-019-12763-9Test
http://hdl.handle.net/11567/1022007Test

المؤلفون: Florian, RT, Kraft, F, Leitao, E, Kaya, S, Klebe, S, Magnin, E, van Rootselaar, A-F, Buratti, J, Kuehnel, T, Schroeder, C, Giesselmann, S, Tschernoster, N, Altmueller, J, lamiral, A, Keren, B, Nava, C, Bouteiller, D, Forlani, S, Jornea, L, Kubica, R, Ye, T, Plassard, D, Jost, B, Meyer, V, Deleuze, J-F, Delpu, Y, Avarello, MDM, Vijfhuizen, LS, Rudolf, G, Hirsch, E, Kroes, T, Reif, PS, Rosenow, F, Ganos, C, Vidailhet, M, Thivard, L, Mathieu, A, Bourgeron, T, Kurth, I, Rafehi, H, Steenpass, L, Horsthemke, B, Berkovic, SF, Bisulli, F, Brancati, F, Canafoglia, L, Casari, G, Guerrini, R, Ishiura, H, Licchetta, L, Mei, D, Pippucci, T, Sadleir, L, Scheffer, IE, Striano, P, Tinuper, P, Tsuji, S, Zara, F, LeGuern, E, Klein, KM, Labauge, P, Bennett, MF, Bahlo, M, Gecz, J, Corbett, MA, Tijssen, MAJ, van den Maagdenberg, AMJM, Depienne, C

العلاقة: pii: 10.1038/s41467-019-12763-9; Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuehnel, T., Schroeder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L. ,. Depienne, C. (2019). Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-019-12763-9Test.; http://hdl.handle.net/11343/245207Test

الإتاحة: https://doi.org/10.1038/s41467-019-12763-9Test
http://hdl.handle.net/11343/245207Test

المؤلفون: Maguire, N.A.P., Ebrahimi, M., Fan, R., Gießelmann, S., Ehlen, F., Schütz, S., Czermak, P.

الوقت: 540, 571, 572

العلاقة: Membranes; https://publica.fraunhofer.de/handle/publica/270196Test

الإتاحة: https://doi.org/10.3390/membranes11060402Test
https://publica.fraunhofer.de/handle/publica/270196Test

المؤلفون: Kornak, U., Mademan, I., Schinke, M., Voigt, M., Krawitz, P., Hecht, J., Barvencik, F., Schinke, T., Giesselmann, S., Beil, F., Pou-Serradell, A., Vilchez, J., Beetz, C., Deconinck, T., Timmerman, V., Kaether, C., De Jonghe, P., Hubner, C., Gal, A., Amling, M., Mundlos, S., Baets, J., Kurth, I.

المصدر: Brain

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pissn/1460-2156 (Electronic)0006-8950 (Print); http://hdl.handle.net/11858/00-001M-0000-0025-78D5-2Test; http://hdl.handle.net/11858/00-001M-0000-0025-78D7-DTest

الإتاحة: https://doi.org/10.1093/brain/awt357Test
http://hdl.handle.net/11858/00-001M-0000-0025-78D5-2Test
http://hdl.handle.net/11858/00-001M-0000-0025-78D7-DTest

المؤلفون: Florian, R.T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., Rootselaar, A.F. van, Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J.F., Delpu, Y., Avarello, M.D.M., Vijfhuizen, L.S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P.S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S.F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I.E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., LeGuern, E., Klein, K.M., Labauge, P., Bennett, M.F., Bahlo, M., Gecz, J., Corbett, M.A., Tijssen, M.A.J., Maagdenberg, A.M.J.M. van den, Depienne, C., FAME Consortium

المصدر: Nature Communications, 10. NATURE PUBLISHING GROUP

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::af7f29afbc8c65e9c77fbc8e77c8116cTest
https://hdl.handle.net/1887/122248Test

المؤلفون: Leipold, E, Liebmann, L, Korenke, GC, Heinrich, T, Giesselmann, S, Baets, J, Ebbinghaus, M, Goral, RO, Stodberg, T, Hennings, JC, Bergmann, M, Altmuller, J, Thiele, H, Wetzel, A, Nurnberg, P, Timmerman, V, De Jonghe, P, Blum, R, Schaible, HG, Weis, J, Heinemann, SH, Hubner, CA, Kurth, I

المصدر: Nature genetics. 45(11):1399

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:127684117Test

المؤلفون: Jelkmann, W., Schramm, U., Gießelmann, S., Schneede, P., Seydel, F.

المصدر: Cell & Tissue Research; 1988, Vol. 252 Issue 2, p429-434, 6p

المؤلفون: Giesselmann S, Wolfgang Jelkmann, Busch L, Marienhoff N

المصدر: Blut. 57:317-321

مصطلحات موضوعية: Male, medicine.medical_specialty, Hydronephrosis, Nephron, Cell Line, Nephrotoxicity, Internal medicine, Blood plasma, medicine, Animals, Hypoxia, Erythropoietin, Kidney, urogenital system, Chemistry, Altitude, Rats, Inbred Strains, Hematology, General Medicine, Kidney Tubular Necrosis, Acute, Hypoxia (medical), medicine.disease, Rats, Kidney Tubules, Tubule, Endocrinology, medicine.anatomical_structure, Gentamicins, medicine.symptom, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0953273cef0a3b1d4f9fffe9a64bd038Test
https://doi.org/10.1007/bf00320362Test

المؤلفون: Barbieri, A., Matzanke, B.F., Gießelmann, S., Jelkmann, W., Schünemann, V., Trautwein, A.X.

المصدر: Hyperfine Interactions; December 1998, Vol. 112 Issue: 1-4 p129-132, 4p

المؤلفون: Giesselmann S, Wolfgang Jelkmann, Uda Schramm, Seydel Fp, Schneede P

المصدر: Cell and Tissue Research. 252

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Histology, Kidney Glomerulus, Biology, Cell Line, Pathology and Forensic Medicine, Cell membrane, medicine, Animals, Microscopy, Phase-Contrast, Kidney, Vesicle, Epithelial Cells, Rats, Inbred Strains, Cell Biology, Fluid transport, Epithelium, Rats, Cell biology, Kidney Tubules, medicine.anatomical_structure, Tubule, Cell culture, Microscopy, Electron, Scanning, Fetal bovine serum

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3a2c960d2ce704099fe4e4f5e8495faTest
https://doi.org/10.1007/bf00214386Test