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1أخبار
المؤلفون: Girisgen, Ilknur, Ufuk, Furkan, Durak, Taner, Becerir, Tulay, Yuksel, Selcuk
مصطلحات موضوعية: Child, Hypertension, Medullary hyperechogenicity, Medullary nephrocalcinosis, Polycystic kidney disease, Genetic analysis, ARPKD, Pkhd1 Mutations
العلاقة: Pediatric Nephrology; DiÄŸer; https://doi.org/10.1007/s00467-021-05314-2Test; https://hdl.handle.net/11499/46555Test; 37; 135; 138; 2-s2.0-85117138055; WOS:000706024900003
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2دورية أكاديمية
المؤلفون: GÖKCE, İBRAHİM
المساهمون: Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian, Feldkoetter, Markus, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Gokce, Ibrahim, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, Koenig, Jens, Litwin, Mieczyslaw, Massella, Laura, Mekahli, Djalila, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Late, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata, Tabel, Yilmaz, Taranta-Janusz, Katarzyna, Testa, Sara, Thumfart, Julia, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota, Wuehl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz, Liebau, Max Christoph
مصطلحات موضوعية: GENOTYPE-PHENOTYPE CORRELATIONS, PKHD1 MUTATIONS, CLINICAL-EXPERIENCE, ARPKD, PROTEIN, ENCODES, GENETICS
وصف الملف: application/pdf
العلاقة: JOURNAL OF PEDIATRICS; https://hdl.handle.net/11424/242332Test; WOS:000439478200007
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3دورية أكاديمية
المؤلفون: Ebner, Kathrin, Schaefer, Franz, Liebau, Max Christoph, ARegPKD Consortium, the, Raes, Ann
المصدر: FRONTIERS IN PEDIATRICS ; ISSN: 2296-2360
مصطلحات موضوعية: Medicine and Health Sciences, CLINICAL-EXPERIENCE, PKHD1 MUTATIONS, DOMINANT, ARPKD, CILIOPATHIES, VOLUME, MECHANISMS, DIAGNOSIS, TOLVAPTAN, GROWTH, ciliopathy, PKHD1, fibrocystin, polycystic kidney disease, congenital hepatic fibrosis
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/8603385Test; http://hdl.handle.net/1854/LU-8603385Test; http://dx.doi.org/10.3389/fped.2017.00018Test; https://biblio.ugent.be/publication/8603385/file/8603388Test
الإتاحة: https://doi.org/10.3389/fped.2017.00018Test
https://biblio.ugent.be/publication/8603385Test
http://hdl.handle.net/1854/LU-8603385Test
https://biblio.ugent.be/publication/8603385/file/8603388Test -
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المؤلفون: Rosalie B Sterenborg, Jörg Dötsch, Bert Bammens, Samuel Kilian, Elke Wühl, Sarah Verbeeck, Djalila Mekahli, Rukshana Shroff, Günter Klaus, Kathrin Burgmaier, Gordana Milosevski-Lomic, Katja Sauerstein, Thomas Benzing, Laurence Michel-Calemard, Dorota Wicher, Franziska Grundmann, Bruno Ranchin, Lutz T. Weber, Franz Schaefer, Heiko Billing, Susanne Schaefer, Anja Büscher, Matthias Galiano, Max C. Liebau
المصدر: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)مصطلحات موضوعية: 0301 basic medicine, Liver Cirrhosis, Male, Pediatrics, LIVER, medicine.medical_treatment, Medizin, PROTEIN, lcsh:Medicine, Liver transplantation, Kidney, urologic and male genital diseases, PKHD1 MUTATIONS, 0302 clinical medicine, Longitudinal Studies, ENCODES, Young adult, lcsh:Science, Kidney transplantation, Multidisciplinary, ASSOCIATION, Autosomal recessive polycystic kidney disease (ARPKD), Autosomal Recessive Polycystic Kidney Disease, Multidisciplinary Sciences, Liver, Science & Technology - Other Topics, Female, Adult, medicine.medical_specialty, Adolescent, Liver fibrosis, Renal function, PATIENT, Article, 03 medical and health sciences, Young Adult, Polycystic kidney disease, medicine, Humans, Renal Insufficiency, Chronic, Polycystic Kidney, Autosomal Recessive, Science & Technology, business.industry, lcsh:R, medicine.disease, GENE, Kidney Transplantation, Liver Transplantation, Transplantation, SIZE, 030104 developmental biology, Cross-Sectional Studies, lcsh:Q, Differential diagnosis, business, 030217 neurology & neurosurgery
وصف الملف: Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c9826ce8055f43f4939ae18b846046eTest
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85067279105Test -
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المؤلفون: Kathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, Carsten Bergmann, Anja Katrin Buescher, Mathias Burgmaier, Ismail Dursun, Ali Duzova, Loai Eid, Florian Erger, Markus Feldkoetter, Matthias Galiano, Michaela Geßner, Heike Goebel, Ibrahim Gokce, Dieter Haffner, Nakysa Hooman, Bernd Hoppe, Augustina Jankauskiene, Guenter Klaus, Jens König, Mieczyslaw Litwin, Laura Massella, Djalila Mekahli, Engin Melek, Sevgi Mir, Lars Pape, Larisa Prikhodina, Bruno Ranchin, Raphael Schild, Tomas Seeman, Lale Sever, Rukshana Shroff, Neveen A. Soliman, Stella Stabouli, Malgorzata Stanczyk, Yilmaz Tabel, Katarzyna Taranta-Janusz, Sara Testa, Julia Thumfart, Rezan Topaloglu, Lutz Thorsten Weber, Dorota Wicher, Elke Wühl, Simone Wygoda, Alev Yilmaz, Katarzyna Zachwieja, Ilona Zagozdzon, Klaus Zerres, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau, Nadejda Ranguelov, Nathalie Godefroid, Laure Collard, Jacques Lombet, Julie Maquet, Gesa Schalk, Uwe Querfeld, Bodo B. Beck, Thomas Benzing, Reinhard Buettner, Franziska Grundmann, Christine Kurschat, Kerstin Benz, Anja Tzschoppe, Björn Buchholz, Rainer Buescher, Karsten Häffner, Martin Pohl, Oliver Gross, Jenny Krügel, Johanna Stock, Ludwig Patzer, Jun Oh, Wanja Bernhardt, Anke Doyon, Tobias Vinke, Anja Sander, Michael Henn, Ute Derichs, Rolf Beetz, Nikola Jeck, Bärbel Lange-Sperandio, Sabine Ponsel, Franziska Kusser, Barbara Uetz, Marcus Benz, Silke Schmidt, Christina Huppertz-Kessler, Birgitta Kranz, Andrea Titieni, Donald Wurm, Heinz E. Leichter, Martin Bald, Heiko Billing, Marwa M. Nabhan, Luis Enrique Lara, Fotios Papachristou, Francesco Emma, Rimante Cerkauskiene, Karolis Azukaitis, Anna Wasilewska, Irena Balasz-Chmielewska, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Marcin Zaniew, Ania Niemirska, Jolanta Antoniewicz, Justyna Lesiak, Alberto Caldas Afonso, Ana Teixeira, Gordana Milosevski-Lomic, Dusan Paripović, Amira Peco-Antic, Svetlana Papizh, Aysun Karabay Bayazit, Ali Anarat, Alper Soylu, Salih Kavukcu, Cengiz Candan, Salim Caliskan, Nur Canpolat, Sevinc Emre, Harika Alpay, Nurver Akinci, Secil Conkar, Hakan M. Poyrazoglu, Ruhan Dusunsel
المساهمون: Çukurova Üniversitesi, Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian, Feldkoetter, Markus, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Gokce, Ibrahim, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, Koenig, Jens, Litwin, Mieczyslaw, Massella, Laura, Mekahli, Djalila, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Late, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata, Tabel, Yilmaz, Taranta-Janusz, Katarzyna, Testa, Sara, Thumfart, Julia, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota, Wuehl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz, Liebau, Max Christoph
مصطلحات موضوعية: Male, 0301 basic medicine, Time Factors, medicine.medical_treatment, ARPKD, Medizin, 030232 urology & nephrology, PROTEIN, Oligohydramnios, Pediatrics, PKHD1 MUTATIONS, 0302 clinical medicine, Pregnancy, Risk Factors, Prospective Studies, ENCODES, GENOTYPE-PHENOTYPE CORRELATIONS, Obstetrics, Hazard ratio, Autosomal Recessive Polycystic Kidney Disease, CLINICAL-EXPERIENCE, Female, Apgar score, Life Sciences & Biomedicine, renal replacement therapy, medicine.medical_specialty, GENETICS, PKHD1, Risk Assessment, Ultrasonography, Prenatal, 03 medical and health sciences, Renal Dialysis, medicine, Humans, Renal replacement therapy, Dialysis, Polycystic Kidney, Autosomal Recessive, Retrospective Studies, Science & Technology, business.industry, Infant, Newborn, Infant, Retrospective cohort study, medicine.disease, 030104 developmental biology, ciliopathy, Pediatrics, Perinatology and Child Health, business, oligohydramnios, Follow-Up Studies
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f6cfde1e35902f2f1dd74b9ce09f4a8Test
https://hdl.handle.net/20.500.12605/19675Test -
6دورية أكاديمية
المؤلفون: Lu, Hao, Galeano, Maria C. Rondon, Ott, Elisabeth, Kaeslin, Geraldine, Kausalya, P. Jaya, Kramer, Carina, Ortiz-Bruechle, Nadina, Hilger, Nadescha, Metzis, Vicki, Hiersche, Milan, Tay, Shang Yew, Tunningley, Robert, Vij, Shubha, Courtney, Andrew D., Whittle, Belinda, Wuehl, Elke, Vester, Udo, Hartleben, Bjoern, Neuber, Steffen, Frank, Valeska, Little, Melissa H., Epting, Daniel, Papathanasiou, Peter, Perkins, Andrew C., Wright, Graham D., Hunziker, Walter, Gee, Heon Yung, Otto, Edgar A., Zerres, Klaus, Hildebrandt, Friedhelm, Roy, Sudipto
مصطلحات موضوعية: Hedgehog Signal-Transduction, Zinc-Finger Protein, Pkhd1 Mutations, Basal Body, Primary Cilium, Digit Number, Mouse Model, Zebrafish, Cells, Limb, 1311 Genetics
العلاقة: orcid:0000-0003-0380-2263; orcid:0000-0003-3644-7093; Not set; (SFB) KIDGEM 1140; 01GM1515C; APP1045464; DK068306; P30DK079310; R01DK068306
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المؤلفون: Rosalie Sterenborg, Irena Jankowska, Malgorzata Stanczyk, Anna Niemirska, Max Christoph Liebau, ALI DÜZOVA, Dorota Wicher, Bjoern Buchholz, Rukshana Shroff, Patryk Lipinski, Marcin Tkaczyk, ASLIHAN KARA, Salih Kavukcu, Jolanta Antoniewicz, Przemyslaw Sikora, Dušan Paripović, Mieczyslaw Litwin, SELCUK YUKSEL, Nur Canpolat, İbrahim Gökce, Miguel Garcia Gonzalez, Larisa Prikhodina, Maria Szczepanska, Karolis Azukaitis, Ann Raes, Djalila Mekahli, Svetlana Papizh, Julia Hoefele, Kevin Kunzmann, Hulya Nalcacioglu, Katarzyna Taranta-Janusz, Salim Çalışkan, Alberto Caldas Afonso
المصدر: Europe PubMed Central
Frontiers in Pediatrics
FRONTIERS IN PEDIATRICSمصطلحات موضوعية: fibrocystin, Pediatrics, medicine.medical_specialty, Pathology, ARPKD, 030232 urology & nephrology, Fibrocystin, PKHD1, Disease, DIAGNOSIS, urologic and male genital diseases, MECHANISMS, PKHD1 MUTATIONS, 03 medical and health sciences, 0302 clinical medicine, Medicine and Health Sciences, congenital hepatic fibrosis, Polycystic kidney disease, Medicine, 030212 general & internal medicine, CILIOPATHIES, TOLVAPTAN, Kidney transplantation, polycystic kidney disease, biology, business.industry, medicine.disease, Autosomal Recessive Polycystic Kidney Disease, Clinical trial, CLINICAL-EXPERIENCE, DOMINANT, ciliopathy, VOLUME, Perspective, Pediatrics, Perinatology and Child Health, Cohort, biology.protein, GROWTH, Congenital hepatic fibrosis, business
وصف الملف: application/pdf; Electronic-eCollection
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21ea604ea7816fb7aca57636511c7de2Test
https://doi.org/10.3389/fped.2017.00018Test -
8دورية أكاديمية
المؤلفون: Liu, Shu-Ping, Ding, Jie, Wang, Fang, Zhang, Yan-Qin, Ye, Jin-Tang
المساهمون: Ding, J (reprint author), Peking Univ, Dept Pediat, Hosp 1, 1 Xianmen St, Beijing 100034, Peoples R China., Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China., Peking Univ, Dept Radiol, Hosp 1, Beijing 100034, Peoples R China., Peking Univ, Dept Pediat, Hosp 1, 1 Xianmen St, Beijing 100034, Peoples R China.
المصدر: PubMed ; SCI
مصطلحات موضوعية: cirrhosis, mutation, polycystic kidney, PKHD1 MUTATIONS, ARPKD, PROTEIN, GENE, SPECTRUM, ENCODES
العلاقة: WORLD JOURNAL OF PEDIATRICS.2014,10,(3),271-274.; 651814; http://hdl.handle.net/20.500.11897/159868Test; WOS:000340079700012
الإتاحة: https://doi.org/20.500.11897/159868Test
https://doi.org/10.1007/s12519-014-0503-zTest
https://hdl.handle.net/20.500.11897/159868Test