المؤلفون: Dorota Wicher, Ryszard Grenda, Mikołaj Teisseyre, Marek Szymczak, Paulina Halat-Wolska, Dorota Jurkiewicz, Max Christoph Liebau, Elżbieta Ciara, Małgorzata Rydzanicz, Joanna Kosińska, Krystyna Chrzanowska, Irena Jankowska

المصدر: Frontiers in Pediatrics, Vol 8 (2020)

مصطلحات موضوعية: autosomal recessive polycystic kidney disease, liver fibrosis, portal hypertension, molecular confirmation, transient elastography, endoscopic variceal ligation, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2020.591379/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/fb237a9d3c49455ab3a365985f97454c

المؤلفون: Aleksandra Jezela-Stanek, Marzena Kucharczyk, Katarzyna Falana, Dorota Jurkiewicz, Marlena Mlynek, Dorota Wicher, Malgorzata Rydzanicz, Monika Kugaudo, Agata Cieslikowska, Elzbieta Ciara, Rafal Ploski, Malgorzata Krajewska-Walasek

المصدر: Biomedical Papers, Vol 160, Iss 1, Pp 161-167 (2016)

مصطلحات موضوعية: malan syndrome, sotos syndrome 2, nfix gene, 19p13.2 deletion, nfix mutation, Medicine

وصف الملف: electronic resource

Relation: https://biomed.papers.upol.cz/artkey/bio-201601-0024_Malan_syndrome_Sotos_syndrome_2_in_two_patients_with_19p13_2_deletion_encompassing_NFIX_gene_and_novel_NFIX_s.php; https://doaj.org/toc/1213-8118; https://doaj.org/toc/1804-7521

URL الوصول: https://doaj.org/article/00a51cc40d5848598367f934403563da

المؤلفون: Dorota Wicher, Irena Jankowska, Patryk Lipiński, Paulina Szymańska-Rożek, Jakub Kmiotek, Wojciech Jańczyk, Jacek Rubik, Krystyna Chrzanowska, Piotr Socha

المصدر: Frontiers in Pediatrics, Vol 6 (2019)

مصطلحات موضوعية: transient elastography, autosomal recessive polycystic kidney disease, congenital hepatic fibrosis, portal hypertension, splenomegaly, thrombocytopenia, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2018.00422/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/ed43dae0146d4f50ada514bf7525034b

المؤلفون: Dorota Piekutowska-Abramczuk, Agata Paszkowska, Elżbieta Ciara, Kamila Frączak, Alicja Mirecka-Rola, Dorota Wicher, Agnieszka Pollak, Karolina Rutkowska, Jędrzej Sarnecki, Lidia Ziółkowska

المصدر: Genes; Volume 13; Issue 8; Pages: 1334

مصطلحات موضوعية: left ventricular noncompaction, cardiomyopathy, next generation sequencing, molecular etiology, heart failure, arrhythmia, children

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13081334

الاتاحة: https://doi.org/10.3390/genes13081334

المؤلفون: Agata Paszkowska, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Alicja Mirecka-Rola, Monika Brzezinska, Dorota Wicher, Grażyna Kostrzewa, Jędrzej Sarnecki, Lidia Ziółkowska

المصدر: Genes; Volume 13; Issue 3; Pages: 477

مصطلحات موضوعية: left ventricular noncompaction, cardiomyopathy, children, sinus bradycardia, HCN4 molecular variant, late gadolinium enhancement

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13030477

الاتاحة: https://doi.org/10.3390/genes13030477

المؤلفون: Victor Murcia Pienkowski, Marzena Kucharczyk, Małgorzata Rydzanicz, Barbara Poszewiecka, Katarzyna Pachota, Marlena Młynek, Piotr Stawiński, Agnieszka Pollak, Joanna Kosińska, Katarzyna Wojciechowska, Monika Lejman, Agata Cieślikowska, Dorota Wicher, Agnieszka Stembalska, Karolina Matuszewska, Anna Materna-Kiryluk, Anna Gambin, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Rafał Płoski

المصدر: Journal of Clinical Medicine; Volume 9; Issue 5; Pages: 1245

مصطلحات موضوعية: EPHA6, KLF13, UBR3, de novo balanced aberrations, mate-pair sequencing, developmental delay

وصف الملف: application/pdf

Relation: Clinical Laboratory Medicine; https://dx.doi.org/10.3390/jcm9051245

الاتاحة: https://doi.org/10.3390/jcm9051245

المؤلفون: Klaudia Rakusiewicz, Wojciech Hautz, Marlena Młynek, Joanna Jędrzejczak-Młodziejewska, Agnieszka Czeszyk, Krystyna Kanigowska, Małgorzata Danowska, Marta Wyszyńska, Anna Rogowska, Dorota Wicher

المصدر: Open Medicine
Open Medicine, Vol 16, Iss 1, Pp 156-160 (2021)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, genetic structures, CGH test, Case Report, 030105 genetics & heredity, Fundus (eye), 03 medical and health sciences, 0302 clinical medicine, Ophthalmology, medicine, pale optic disc, Macular edema, Cohen syndrome, macular edema, medicine.diagnostic_test, business.industry, Fundus photography, General Medicine, facial dysmorphism, medicine.disease, eye diseases, VPS13B, medicine.anatomical_structure, 030221 ophthalmology & optometry, Optic nerve, Medicine, sense organs, business, Retinopathy, Optic disc

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20c61581280da5893bc4770f1b99f63a
http://europepmc.org/articles/PMC7819545

المؤلفون: Irena Jankowska, Dorota Wicher, Łukasz Obrycki

المصدر: J Pediatr Genet

مصطلحات موضوعية: Kidney, medicine.diagnostic_test, business.industry, 030232 urology & nephrology, Disease, 030204 cardiovascular system & hematology, Bioinformatics, medicine.disease, Ciliopathies, Autosomal Recessive Polycystic Kidney Disease, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Nephromegaly, medicine, Congenital hepatic fibrosis, Differential diagnosis, medicine.symptom, business, Genetics (clinical), Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e18a696ac5ff6a7a9de39209a5c8ae9a
https://doi.org/10.1055/s-0040-1714701

المؤلفون: Dorota Wicher, Elżbieta Jurkiewicz, Irena Jankowska

المصدر: Pediatria Polska. 95:207-211

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Cholestasis, business.industry, Biliary tract, Pediatrics, Perinatology and Child Health, Medicine, Congenital hepatic fibrosis, In patient, Autosomal recessive polycystic kidney disease (ARPKD), business, medicine.disease, Autosomal Recessive Polycystic Kidney Disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::982d388469fb12255ad172a2b4f1ee52
https://doi.org/10.5114/polp.2020.103463

المؤلفون: Małgorzata Rydzanicz, Marlena Młynek, Agnieszka Pollak, Dorota Wicher, Agnieszka Stembalska, Anna Gambin, Katarzyna Wojciechowska, Piotr Stawiński, Krystyna H. Chrzanowska, Monika Lejman, Barbara Poszewiecka, Rafał Płoski, Katarzyna Pachota, Karolina Matuszewska, Marzena Kucharczyk, Małgorzata Krajewska-Walasek, Anna Materna-Kiryluk, Victor Murcia Pienkowski, Agata Cieślikowska, Joanna Kosińska

المصدر: Journal of Clinical Medicine, Vol 9, Iss 1245, p 1245 (2020)
Journal of Clinical Medicine
Journal of Clinical Medicine; Volume 9; Issue 5; Pages: 1245

مصطلحات موضوعية: Candidate gene, lcsh:Medicine, Chromosomal translocation, KLF13, DNA sequencing, Article, UBR3, 03 medical and health sciences, 0302 clinical medicine, Medicine, de novo balanced aberrations, Gene, 030304 developmental biology, Genetics, 0303 health sciences, Anophthalmia, business.industry, Breakpoint, lcsh:R, General Medicine, medicine.disease, Phenotype, EPHA6, developmental delay, NFIA, mate-pair sequencing, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0484953247ed0edd64a346dd747dbe5c
https://www.mdpi.com/2077-0383/9/5/1245

المؤلفون: Irena Jankowska, Patryk Lipiński, Dorota Wicher, Joanna Pawłowska, Joanna Cielecka-Kuszyk

المصدر: Pediatria Polska. 92:446-449

مصطلحات موضوعية: medicine.medical_specialty, Pathology, medicine.diagnostic_test, business.industry, Disease, medicine.disease, Gilbert's syndrome, Gastroenterology, Interlobular bile ducts, Ductal Plate Malformation, 03 medical and health sciences, 0302 clinical medicine, Fibrosis, 030220 oncology & carcinogenesis, Internal medicine, Liver biopsy, Pediatrics, Perinatology and Child Health, Biopsy, medicine, Congenital hepatic fibrosis, 030211 gastroenterology & hepatology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8e696e4c6d948c22ec92e5e7c8d28f76
https://doi.org/10.1016/j.pepo.2017.03.021

المؤلفون: Patryk Lipiński, Irena Jankowska, Piotr Kaliciński, Joanna Cielecka-Kuszyk, Dorota Wicher

المصدر: Pediatria Polska. 91:453-457

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Intrahepatic bile ducts, Disease, Jaundice, medicine.disease, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Bacterial cholangitis, 030220 oncology & carcinogenesis, Internal medicine, Upper abdominal pain, Pediatrics, Perinatology and Child Health, medicine, Congenital hepatic fibrosis, 030211 gastroenterology & hepatology, Choledochal cysts, Congenital disease, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5b94be43c8358cacabd70f38fded6d4e
https://doi.org/10.1016/j.pepo.2016.04.003

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c9826ce8055f43f4939ae18b846046e
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85067279105

المؤلفون: Anna, Latos-Bielenska, Anna, Materna-Kiryluk, Katarzyna, Wisniewska, Anna, Jamry-Dziurla, Karolina, Matuszewska, Renata, Glazar, Aleksander, Jamsheer, Dorota, Wicher, Ryszard, Slezak, Jacek, Pilch

المصدر: European Journal of Medical Genetics ; volume 61, issue 9, page 566 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2018.06.052
https://api.elsevier.com/content/article/PII:S1769721218306360?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721218306360?httpAccept=text/plain

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f6cfde1e35902f2f1dd74b9ce09f4a8
https://hdl.handle.net/20.500.12605/19675

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 PEDIATRICS

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21ea604ea7816fb7aca57636511c7de2
https://doi.org/10.3389/fped.2017.00018