نتائج البحث - "Jeck, Nikola"

المساهمون: KfH-Stiftung Präventivmedizin, Seventh Framework Programme, European Renal Association-European Dialysis and Transplant Association, Bundesministerium für Bildung und Forschung

المصدر: Kidney International ; volume 96, issue 1, page 214-221 ; ISSN 0085-2538

الاتاحة: http://dx.doi.org/10.1016/j.kint.2019.01.035
https://api.elsevier.com/content/article/PII:S008525381930184X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S008525381930184X?httpAccept=text/plain

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5

Academic Journal

Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

المؤلفون: Anarat, Ali, Dusunsel, Ruhan, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph, Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, DURSUN, İSMAİL, DÜZOVA, ALİ, Eid, Loai, Erger, Florian, Feldkoetter, Markus, Galiano, Matthias, Geßner, Michaela, Goebel, Heike, Gokce, Ibrahim, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, König, Jens, Litwin, Mieczyslaw, Massella, Laura, Mekahli, Djalila, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Lale, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata, Tabel, Yilmaz, Taranta-Janusz, Katarzyna, Testa, Sara, Thumfart, Julia, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota, Wühl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Ranguelov, Nadejda, Godefroid, Nathalie, Collard, Laure, Lombet, Jacques, Maquet, Julie, Schalk, Gesa, Querfeld, Uwe, Beck, Bodo B., Benzing, Thomas, Buettner, Reinhard, Grundmann, Franziska, Kurschat, Christine, Benz, Kerstin, Tzschoppe, Anja, Buchholz, Björn, Buescher, Rainer, Häffner, Karsten, Pohl, Martin, Gross, Oliver, Krügel, Jenny, Stock, Johanna, Patzer, Ludwig, Oh, Jun, Bernhardt, Wanja, Doyon, Anke, Vinke, Tobias, Sander, Anja, Henn, Michael, Derichs, Ute, Beetz, Rolf, Jeck, Nikola, Lange-Sperandio, Bärbel, Ponsel, Sabine, Kusser, Franziska, Uetz, Barbara, Benz, Marcus, Schmidt, Silke, Huppertz-Kessler, Christina, Kranz, Birgitta, Titieni, Andrea, Wurm, Donald, Leichter, Heinz E., Bald, Martin, Billing, Heiko, Nabhan, Marwa M., Lara, Luis Enrique, Papachristou, Fotios, Emma, Francesco, Cerkauskiene, Rimante, Azukaitis, Karolis, Wasilewska, Anna, Balasz-Chmielewska, Irena, Conkar, Secil, Akinci, Nurver, Alpay, Harika, Emre, Sevinc, Canpolat, Nur, Caliskan, Salim, Candan, Cengiz, Kavukcu, Salih, Soylu, Alper, Poyrazoglu, Hakan M., Bayazit, Aysun Karabay, Papizh, Svetlana, Peco-Antic, Amira, Paripović, Dusan, Afonso, Alberto Caldas, Lesiak, Justyna, Antoniewicz, Jolanta, Niemirska, Ania, Zaniew, Marcin, Sikora, Przemyslaw, Tkaczyk, Marcin, Miklaszewska, Monika, Milosevski-Lomic, Gordana, Teixeira, Ana, Shroff, Rukshana

Relation: a85e58e6-2126-464c-98e2-7d7142b6bbc3; https://avesis.deu.edu.tr/publication/details/a85e58e6-2126-464c-98e2-7d7142b6bbc3/oai

الاتاحة: https://doi.org/10.1016/j.jpeds.2018.03.052
https://avesis.deu.edu.tr/publication/details/a85e58e6-2126-464c-98e2-7d7142b6bbc3/oai

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6

Academic Journal

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

المؤلفون: Gee, Heon Yung, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Attrach, Ibrahim Al, Hassoun, Ibrahim Al, Ozturk, Savas, Drozdz, Dorota, Helmchen, Udo, O'Toole, John F., Attanasio, Massimo, Lewis, Richard A., Nürnberg, Gudrun, Nürnberg, Peter, Washburn, Joseph, MacDonald, James, Innis, Jeffrey W., Levy, Shawn, Hildebrandt, Friedhelm

المصدر: Kidney International ; volume 85, issue 4, page 880-887 ; ISSN 0085-2538

الاتاحة: http://dx.doi.org/10.1038/ki.2013.450
https://api.elsevier.com/content/article/PII:S008525381556290X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S008525381556290X?httpAccept=text/plain

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7

Academic Journal

Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome

المؤلفون: Riveira-Munoz, Eva, Devuyst, Olivier, Belge, Hendrica, Jeck, Nikola, Strompf, Laurence, Vargas-Poussou, Rosa, Jeunemaître, Xavier, Blanchard, Anne, Knoers, Nine V., Konrad, Martin, Dahan, Karin

مصطلحات موضوعية: Clinical Nephrology

وصف الملف: text/html

Relation: http://ndt.oxfordjournals.org/cgi/content/short/23/10/3120; http://dx.doi.org/10.1093/ndt/gfn229

الاتاحة: http://ndt.oxfordjournals.org/cgi/content/short/23/10/3120
https://doi.org/10.1093/ndt/gfn229

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8

Academic Journal

Reduced Systolic Myocardial Function in Children with Chronic Renal Insufficiency

المؤلفون: Chinali, Marcello, de Simone, Giovanni, Matteucci, Maria Chiara, Picca, Stefano, Mastrostefano, Antonio, Anarat, Ali, C[COMBINING CEDILLA]aliskan, Salim, Jeck, Nikola, Neuhaus, Thomas J., Peco-Antic, Amira, Peruzzi, Licia, Testa, Sara, Mehls, Otto, Wühl, Elke, Schaefer, Franz

المصدر: Journal of the American Society of Nephrology ; volume 18, issue 2, page 593-598 ; ISSN 1046-6673

الاتاحة: http://dx.doi.org/10.1681/asn.2006070691
https://journals.lww.com/00001751-200702000-00030

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9

Patent

CICKb mutation as a diagnostic and therapeutical target

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10

Academic Journal

A Spanish Founder Mutation in the Chloride Channel Gene, CLCNKB, as a Cause of Atypical Bartter Syndrome in Adult Age

المؤلفون: Gorgojo, Juan José, Donnay, Sergio, Jeck, Nikola, Konrad, Martin

المصدر: Hormone Research in Paediatrics ; volume 65, issue 2, page 62-68 ; ISSN 1663-2818 1663-2826

الاتاحة: https://doi.org/10.1159/000090601
https://www.karger.com/Article/Pdf/90601

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11

Academic Journal

Late-Onset Manifestation of Antenatal Bartter Syndrome as a Result of Residual Function of the Mutated Renal Na+-K+-2Cl− Co-Transporter

المؤلفون: Pressler, Carsten A., Heinzinger, Jolanta, Jeck, Nikola, Waldegger, Petra, Pechmann, Ulla, Reinalter, Stephan, Konrad, Martin, Beetz, Rolf, Seyberth, Hannsjo[Combining Diaeresis]rg W., Waldegger, Siegfried

المصدر: Journal of the American Society of Nephrology ; volume 17, issue 8, page 2136-2142 ; ISSN 1046-6673

الاتاحة: http://dx.doi.org/10.1681/asn.2005101071
https://journals.lww.com/00001751-200608000-00015

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12

Patent

ClCKb mutation as a diagnostic and therapeutical target

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13

Patent

CLCKb mutation as a diagnostic therapeutical target

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14

Academic Journal

CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease

المؤلفون: Besbas, Nesrin, Ozaltin, Fatih, Jeck, Nikola, Seyberth, Hannsjörg, Ludwig, Michael

مصطلحات موضوعية: Case Report

وصف الملف: text/html

Relation: http://ndt.oxfordjournals.org/cgi/content/short/gfh799v1; http://dx.doi.org/10.1093/ndt/gfh799

الاتاحة: http://ndt.oxfordjournals.org/cgi/content/short/gfh799v1
https://doi.org/10.1093/ndt/gfh799

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15

Academic Journal

pH dependence of extracellular calcium sensing receptor activity determined by a novel technique

المؤلفون: Doroszewicz, Jolanta, Waldegger, Petra, Jeck, Nikola, Seyberth, Hannsjrg, Waldegger, Siegfried

المصدر: Kidney International ; volume 67, issue 1, page 187-192 ; ISSN 0085-2538

الاتاحة: http://dx.doi.org/10.1111/j.1523-1755.2005.00069.x
https://api.elsevier.com/content/article/PII:S0085253815504419?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0085253815504419?httpAccept=text/plain

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16

Patent

Clckb mutation as a diagnostic and therapeutical target

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17

Academic Journal

Activating Mutation of the Renal Epithelial Chloride Channel ClC-Kb Predisposing to Hypertension

المؤلفون: Jeck, Nikola, Waldegger, Siegfried, Lampert, Angelika, Boehmer, Christoph, Waldegger, Petra, Lang, Philipp A., Wissinger, Bernd, Friedrich, Björn, Risler, Teut, Moehle, Robert, Lang, Undine E., Zill, Peter, Bondy, Brigitta, Schaeffeler, Elke, Asante-Poku, Stephen, Seyberth, Hannsjörg, Schwab, Matthias, Lang, Florian

المصدر: Hypertension ; volume 43, issue 6, page 1175-1181 ; ISSN 0194-911X 1524-4563

الاتاحة: http://dx.doi.org/10.1161/01.hyp.0000129824.12959.f0
https://www.ahajournals.org/doi/full/10.1161/01.HYP.0000129824.12959.f0

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18

Academic Journal

A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies

المؤلفون: Coto, Eliecer, Rodriguez, Julian, Jeck, Nikola, Alvarez, Victoria, Stone, Rosario, Loris, Cesar, Rodriguez, Luis M., Fischbach, Michel, Seyberth, Hannsjörg W., Santos, Fernando

المصدر: Kidney International ; volume 65, issue 1, page 25-29 ; ISSN 0085-2538

الاتاحة: http://dx.doi.org/10.1111/j.1523-1755.2004.00388.x
https://api.elsevier.com/content/article/PII:S0085253815496735?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0085253815496735?httpAccept=text/plain

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19

Academic Journal

A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity

المؤلفون: Jeck, Nikola, Waldegger, Petra, Doroszewicz, Jolanta, Seyberth, Hannsjörg, Waldegger, Siegfried

المصدر: Kidney International ; volume 65, issue 1, page 190-197 ; ISSN 0085-2538

الاتاحة: http://dx.doi.org/10.1111/j.1523-1755.2004.00363.x
https://api.elsevier.com/content/article/PII:S0085253815496905?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0085253815496905?httpAccept=text/plain

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20

Academic Journal

Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome

المؤلفون: Peters, Melanie, Ermert, Saskia, Jeck, Nikola, Derst, Christian, Pechmann, Ulla, Weber, Stefanie, Schlingmann, Karl P., Seyberth, Hannsjoerg W., Waldegger, Siegfried, Konrad, Martin

المصدر: Kidney International ; volume 64, issue 3, page 923-932 ; ISSN 0085-2538

الاتاحة: http://dx.doi.org/10.1046/j.1523-1755.2003.00153.x
https://api.elsevier.com/content/article/PII:S008525381549413X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S008525381549413X?httpAccept=text/plain

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