المؤلفون: Roman Günthner, Lea Knipping, Stefanie Jeruschke, Robin Satanoskij, Bettina Lorenz-Depiereux, Clara Hemmer, Matthias C. Braunisch, Korbinian M. Riedhammer, Jasmina Ćomić, Burkhard Tönshoff, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Karin Buiting, Nikola Gjorgjievski, Ana Momirovska, Ludwig Patzer, Martin Kirschstein, Oliver Gross, Adrian Lungu, Stefanie Weber, Lutz Renders, Uwe Heemann, Thomas Meitinger, Anja K. Büscher, Julia Hoefele

المصدر: Frontiers in Medicine, Vol 9 (2022)

مصطلحات موضوعية: Alport syndrome, X-inactivation, COL4A5, urine-derived cells, microscopic hematuria, proteinuria, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2022.953643/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/b7bb8aa91fa849b0bfdf65d2e43b6deb

المؤلفون: Maryam Najafi, Korbinian M. Riedhammer, Aboulfazl Rad, Paria Najarzadeh Torbati, Riccardo Berutti, Isabel Schüle, Sophie Schroda, Thomas Meitinger, Jasmina Ćomić, Simin Sadeghi Bojd, Tayebeh Baranzehi, Azadeh Shojaei, Anoush Azarfar, Mahmood Reza Khazaei, Anna Köttgen, Rolf Backofen, Ehsan Ghayoor Karimiani, Julia Hoefele, Miriam Schmidts

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: nephrotic syndrome, Iran, SRNS, ARHGDIA, NUP205, COQ6, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.974840/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/7e9cdafe92c94f5181a68955cd99abd7

المؤلفون: Jasmina Ćomić, Korbinian M. Riedhammer, Roman Günthner, Christian W. Schaaf, Patrick Richthammer, Hannes Simmendinger, Donald Kieffer, Riccardo Berutti, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Jovana Putnik, Nataša Stajic, Adrian Lungu, Oliver Gross, Lutz Renders, Uwe Heemann, Matthias C. Braunisch, Thomas Meitinger, Julia Hoefele

المصدر: Frontiers in Medicine, Vol 9 (2022)

مصطلحات موضوعية: type-IV-collagen-related nephropathy, Alport syndrome, COL4A3, COL4A4, COL4A5, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2022.957733/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/00d7a4d3a820481e94eec216b9d586ac

المؤلفون: Michaela Stippel, Korbinian M. Riedhammer, Bärbel Lange-Sperandio, Michaela Geßner, Matthias C. Braunisch, Roman Günthner, Martin Bald, Miriam Schmidts, Peter Strotmann, Velibor Tasic, Christoph Schmaderer, Lutz Renders, Uwe Heemann, Julia Hoefele

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: hereditary nephropathy, CAKUT, podocytopathy, FSGS, SRNS, ciliopathy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.642849/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/b6e75bda1f1e4bf1991437faac47263c

المؤلفون: Anaïs, Begemann, Heinrich, Sticht, Amber, Begtrup, Antonio, Vitobello, Laurence, Faivre, Siddharth, Banka, Bader, Alhaddad, Reza, Asadollahi, Jessica, Becker, Tatjana, Bierhals, Kathleen E, Brown, Ange-Line, Bruel, Theresa, Brunet, Maryline, Carneiro, Kirsten, Cremer, Robert, Day, Anne-Sophie, Denommé-Pichon, Dave A, Dyment, Hartmut, Engels, Rachel, Fisher, Elaine S, Goh, M J, Hajianpour, Lucia Ribeiro Machado, Haertel, Nadine, Hauer, Maja, Hempel, Theresia, Herget, Jessika, Johannsen, Cornelia, Kraus, Gwenaël, Le Guyader, Gaetan, Lesca, Frédéric Tran, Mau-Them, John Henry, McDermott, Kirsty, McWalter, Pierre, Meyer, Katrin, Õunap, Bernt, Popp, Tiia, Reimand, Korbinian M, Riedhammer, Martina, Russo, Lynette G, Sadleir, Margarita, Saenz, Manuel, Schiff, Elisabeth, Schuler, Steffen, Syrbe, Amelie Theresa, Van der Ven, Alain, Verloes, Marjolaine, Willems, Christiane, Zweier, Katharina, Steindl, Markus, Zweier, Anita, Rauch

مصطلحات موضوعية: Q Science (General)

وصف الملف: application/pdf

Relation: http://gala.gre.ac.uk/id/eprint/41737/1/41737-ASADOLLAHI-New-insights-into-the-clinical-and-molecular-spectrum-of-the-novel-CYFIP2-related-neurodevelopmental-disorder-and-impairment-of-the-WRC-mediated-actin-dynamics.pdf; Anaïs, Begemann, Heinrich, Sticht, Amber, Begtrup, Antonio, Vitobello, Laurence, Faivre, Siddharth, Banka, Bader, Alhaddad, Reza, Asadollahi, Jessica, Becker, Tatjana, Bierhals, Kathleen E, Brown, Ange-Line, Bruel, Theresa, Brunet, Maryline, Carneiro, Kirsten, Cremer, Robert, Day, Anne-Sophie, Denommé-Pichon, Dave A, Dyment, Hartmut, Engels, Rachel, Fisher, Elaine S, Goh, M J, Hajianpour, Lucia Ribeiro Machado, Haertel, Nadine, Hauer, Maja, Hempel, Theresia, Herget, Jessika, Johannsen, Cornelia, Kraus, Gwenaël, Le Guyader, Gaetan, Lesca, Frédéric Tran, Mau-Them, John Henry, McDermott, Kirsty, McWalter, Pierre, Meyer, Katrin, Õunap, Bernt, Popp, Tiia, Reimand, Korbinian M, Riedhammer, Martina, Russo, Lynette G, Sadleir, Margarita, Saenz, Manuel, Schiff, Elisabeth, Schuler, Steffen, Syrbe, Amelie Theresa, Van der Ven, Alain, Verloes, Marjolaine, Willems, Christiane, Zweier, Katharina, Steindl, Markus, Zweier and Anita, Rauch (2020) New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine. ISSN 1098-3600 (doi:https://doi.org/10.1038/s41436-020-01011-x )

الاتاحة: http://gala.gre.ac.uk/id/eprint/41737/
http://gala.gre.ac.uk/id/eprint/41737/1/41737-ASADOLLAHI-New-insights-into-the-clinical-and-molecular-spectrum-of-the-novel-CYFIP2-related-neurodevelopmental-disorder-and-impairment-of-the-WRC-mediated-actin-dynamics.pdf
https://doi.org/10.1038/s41436-020-01011-x

المؤلفون: Eva Pauline Macheroux, Matthias C. Braunisch, Stephanie Pucci Pegler, Robin Satanovskij, Korbinian M. Riedhammer, Roman Günthner, Oliver Gross, Mato Nagel, Lutz Renders, Julia Hoefele

المصدر: Frontiers in Pediatrics, Vol 7 (2019)

مصطلحات موضوعية: Alport syndrome, COL4A5, p.Gly624Asp, ESRD, hearing impairment, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2019.00485/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/93490a4cab1844d78280fd5b0c5df256

المؤلفون: Mode Al Ojaimi, Bashar J. Banimortada, Amna Othman, Korbinian M. Riedhammer, Mohammed Almannai, Ayman W. El‐Hattab

المصدر: Clinical Genetics. 102:169-181

مصطلحات موضوعية: Histone Demethylases, Histones, Lysine, Histone Methyltransferases, Genetics, Humans, Histone-Lysine N-Methyltransferase, Syndrome, Methylation, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cade5a2b52239e45ae1194756a63be6f
https://doi.org/10.1111/cge.14181

المؤلفون: Rosa Weng, Karl-Heinz Nenning, Michelle Schwarz, Korbinian M. Riedhammer, Theresa Brunet, Matias Wagner, Gregor Kasprian, Johann Lehrner, Fritz Zimprich, Silvia B. Bonelli, Martin Krenn

المصدر: Journal of Developmental & Behavioral Pediatrics. 43:e419-e422

مصطلحات موضوعية: Male, Psychiatry and Mental health, Epilepsy, Phenotype, Autism Spectrum Disorder, Neurodevelopmental Disorders, Intellectual Disability, Pediatrics, Perinatology and Child Health, Connectome, Developmental and Educational Psychology, Humans, Histone-Lysine N-Methyltransferase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed8139b1bf9f2b6e2733008b6ab19a98
https://doi.org/10.1097/dbp.0000000000001079

المؤلفون: Ria Schönauer, Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura Alice Devlin, Jill Murrell, Emma C. Bedoukian, Linda Pöschla, Elena Hantmann, Korbinian M. Riedhammer, Julia Hoefele, Konrad Platzer, Ronald Biemann, Philipp M. Campeau, Johannes Münch, Henrike Heyne, Anne Hoffmann, Adhideb Ghosh, Wenfei Sun, Hua Dong, Falko Noé, Christian Wolfrum, Emily Woods, Michael J. Parker, Ruxandra Neatu, Gwenael Le Guyader, Ange-Line Bruel, Laurence Perrin, Helena Spiewak, Isabelle Missotte, Melanie Fourgeaud, Vincent Michaud, Didier Lacombe, Sarah A. Paolucci, Jillian G. Buchan, Margaret Glissmeyer, Bernt Popp, Matthias Blüher, John A. Sayer, Jan Halbritter

المصدر: The American Journal of Human Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a48c674a9b63f3fa16b84b107ba3d39e
https://doi.org/10.1016/j.ajhg.2023.04.010

المؤلفون: Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C. Betz, Tim Bender, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Spier Isabel, Heimbach André, Bender Tim, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S. Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M. C. Schwaibold, Christian P. Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M. Okun, Urania Kotzaeridou, Georg F. Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S. Westphal, Tim Strom, Reka Kovacs, Korbinian M. Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Vill Katharina, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R. Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J. Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M. Krawitz, Tobias Haack, Nadja Ehmke, Matias Wagner

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::51d2fffa10e3858a273179e9636175f6
https://doi.org/10.1101/2023.04.19.23288824

المؤلفون: Matthias C. Braunisch, Maike Büttner-Herold, Roman Günthner, Robin Satanovskij, Korbinian M. Riedhammer, Pierre-Maurice Herr, Hanns-Georg Klein, Dagmar Wahl, Claudius Küchle, Lutz Renders, Uwe Heemann, Christoph Schmaderer, Julia Hoefele

المصدر: Frontiers in Pediatrics, Vol 6 (2018)

مصطلحات موضوعية: Alport syndrome, COL4A3, focal segmental glomerulosclerosis, FSGS, nephrotic syndrome, hearing impairment, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2018.00171/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/3b2115041881401fb54431658d3913c3

المؤلفون: Jan Boeckhaus, Julia Hoefele, Korbinian M Riedhammer, Mato Nagel, Bodo B Beck, Mira Choi, Maik Gollasch, Carsten Bergmann, Joseph E Sonntag, Victoria Troesch, Johanna Stock, Oliver Gross

المصدر: Nephrology Dialysis Transplantation. 37:2496-2504

مصطلحات موضوعية: Adult, Collagen Type IV, Heterozygote, Transplantation, Nephritis, Hereditary, Middle Aged, urologic and male genital diseases, Nephrology, Quality of Life, Humans, Kidney Failure, Chronic, Female, Prospective Studies, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe291eff8b7773541c06b5d650a08298
https://doi.org/10.1093/ndt/gfac006

المؤلفون: Matthias C. Braunisch, Clara Maria Großewinkelmann, Martin Menke, Nora Hannane, Riccardo Berutti, Jasmina Ćomić, Roman Günthner, Lutz Renders, Christoph Schmaderer, Uwe Heemann, Korbinian M. Riedhammer, Matias Wagner, Julia Hoefele

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ac4a91d87465c6c89a163f4c2f65c210
https://doi.org/10.2139/ssrn.4344628

المؤلفون: Korbinian M. Riedhammer, Christoph Schmaderer, Uwe Heemann, Detlef Bockenhauer

المصدر: Der Nephrologe. 16:397-410

مصطلحات موضوعية: Nephrology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::370eca74ee1fcba57c9df4951fa7c6f5
https://doi.org/10.1007/s11560-021-00547-6

المؤلفون: Korbinian M. Riedhammer, Jasmina Ćomić, Velibor Tasic, Jovana Putnik, Nora Abazi-Emini, Aleksandra Paripovic, Natasa Stajic, Thomas Meitinger, Valbona Nushi-Stavileci, Riccardo Berutti, Matthias C. Braunisch, Julia Hoefele

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fe93b600d7c95a0780a7b6a7d115b3b
https://doi.org/10.21203/rs.3.rs-2251540/v1

المؤلفون: Verena Klämbt, Youying Mao, Vimla Aggarwal, Arang Kim, Friedhelm Hildebrandt, Mohamad A. Mikati, Vandana Shashi, Anne H. O’Donnell-Luria, Vaidehi Jobanputra, Jeremiah Martino, Vivette D. D'Agati, Minxian Wang, Marcus R. Benz, Shoji Yano, Janine Altmüller, Ali G. Gharavi, Florian Buerger, Enrico Fiaccadori, Richard P. Lifton, Bodo B. Beck, Amy Kolb, Mordi Muorah, David Goldstein, Nina Mann, Martin R. Pollak, Dina Ahram, Heidi Cope, Gian Marco Ghiggeri, Jillian S. Parboosingh, Asmaa S. AbuMaziad, Kamal Khan, Ana C. Onuchic-Whitford, Louise Bier, Emma Pierce-Hoffman, Jonathan E. Zuckerman, Shrikant Mane, Moin A. Saleem, Amar J. Majmundar, Heidi L. Rehm, Ora Yadin, Erin L. Heinzen, Gina Y. Jin, Christelle Moufawad El Achkar, Konstantin Deutsch, Julia Hoefele, Ania Koziell, Gianluca Caridi, Talha Gunduz, Agnieszka Bierzynska, Korbinian M. Riedhammer, Monica Bodria, Ronen Schneider, Julian A. Martinez-Agosto, Thomas M. Kitzler, Shirlee Shril, Ulrike John-Kroegel, Howard Trachtman, Adele Mitrotti, Eleanor G. Seaby, Amanda V. Tyndall, Isabella Pisani, Patricia L. Weng, Tze Y Lim, A. Micheil Innes, John Musgrove, Simone Sanna-Cherchi, Erica E. Davis

المصدر: Am J Hum Genet

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, medicine.medical_specialty, Nephrotic Syndrome, Developmental Disabilities, 030232 urology & nephrology, Neurogenetics, Nerve Tissue Proteins, Biology, Kidney, Cell Line, Mice, 03 medical and health sciences, Exon, 0302 clinical medicine, Focal segmental glomerulosclerosis, Report, Exome Sequencing, Genetics, medicine, Animals, Humans, Child, Exome, Genetics (clinical), Exome sequencing, Epilepsy, Glomerulosclerosis, Focal Segmental, Podocytes, medicine.disease, 3. Good health, Phenotype, 030104 developmental biology, Codon, Nonsense, Child, Preschool, Mutation, Medical genetics, Female, Intranuclear Space, Carrier Proteins, Nephrotic syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7969111fa124c459f42b18f37374a18
https://doi.org/10.1016/j.ajhg.2021.01.008

المؤلفون: Korbinian M Riedhammer, Anna L Burgemeister, Vincent Cantagrel, Jeanne Amiel, Karine Siquier-Pernet, Nathalie Boddaert, Jozef Hertecant, Patricia L Kannouche, Caroline Pouvelle, Stephanie Htun, Anne M Slavotinek, Christian Beetz, Dan Diego-Alvarez, Kapil Kampe, Nicole Fleischer, Zain Awamleh, Rosanna Weksberg, Robert Kopajtich, Thomas Meitinger, Jehan Suleiman, Ayman W El-Hattab

المصدر: Hum Mol Genet
Hum. Mol. Genet. 31, 3083-3094 (2022)

مصطلحات موضوعية: General Medicine, Hematologic Diseases, Histone Code, Phenotype, Vestibular Diseases, Transcription Factor TFIIA, Face, Endopeptidases, Genetics, Histone Methyltransferases, Animals, Abnormalities, Multiple, Original Article, Molecular Biology, Genetics (clinical), Zebrafish

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d82b1a14904cdc0173758c0e7464c36e
https://pubmed.ncbi.nlm.nih.gov/35512351

المؤلفون: Stefania Drovandi, Beata S. Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Szymon Ziętkiewicz, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, Alexey N. Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Anne M. Schijvens, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Fang Deng, Caroline Rousset-Rouviere, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, Franz Schaefer, Lina Maria Serna Higuita, Alaleh Gheissari, Nazym Nigmatullina, Marcin Tkaczyk, Halina Borzecka, Radovan Bogdanovic, Sevgi Mir, Thomas Klopstock, Holger Prokisch, Cornelia Kornblum, Cui-Hua Liu, Shu-Zhen Sun, Yang Dong, Xiao-Wen Wang, Jiang-Wei Luan

المساهمون: Institut Català de la Salut, [Drovandi S] Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany. Division of Nephrology, Dialysis and Transplantation, Department of Internal Medicine, Ospedale Policlinico San Martino and University of Genoa, Genoa, Italy. Division of Nephrology, Dialysis, Transplantation, Giannina Gaslini Children's Hospital, Genoa, Italy. [Lipska-Ziętkiewicz BS] Rare Diseases Centre, Medical University of Gdańsk, Gdańsk, Poland. Department of Biology and Medical Genetics, Clinical Genetics Unit, Medical University of Gdańsk, Gdańsk, Poland. [Ozaltin F, Gulhan B] Division of Pediatric Nephrology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. [Emma F] Department of Pediatric Subspecialties, Division of Nephrology and Dialysis, Bambino Gesù Childrens Hospital, IRCCS, Rome, Italy. [Boyer O] APHP, Necker-Enfants Malades Hospital, Pediatric Nephrology, MARHEA and SNI Reference Centers, Paris, France. Imagine Institute, Paris University, Paris, France. [Ariceta G] Servei de Nefrologia Pediàtrica, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Kidney Int. 102, 592-603 (2022)
Scientia

مصطلحات موضوعية: técnicas de investigación::técnicas genéticas::estudios de asociación genética [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Mitochondrial Diseases, Muscle Weakness, Nephrotic Syndrome, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Ubiquinone, Mitocondris - Malalties - Aspectes genètics, enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::nefrosis::síndrome nefrótico [ENFERMEDADES], Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Nephrosis::Nephrotic Syndrome [DISEASES], Nutritional and Metabolic Diseases::Metabolic Diseases::Mitochondrial Diseases [DISEASES], Ronyons - Malalties - Aspectes genètics, Coenzyme Q10, Mitochondria, Steroid-resistant Nephrotic Syndrome, Nephrology, Mutation, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Ataxia, Steroids, Investigative Techniques::Genetic Techniques::Genetic Association Studies [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], enfermedades nutricionales y metabólicas::enfermedades metabólicas::enfermedades mitocondriales [ENFERMEDADES], Genetic Association Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4e1e37391fef1cc876f8e121f4381fe
http://hdl.handle.net/10852/99032

المؤلفون: Stefania Drovandi, Beata S. Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, Alexey N. Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Michiel F. Schreuder, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Cuihua Liu, Shuzhen Sun, Fang Deng, Xiaowen Wang, Stéphanie Clavé, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, Franz Schaefer, Lina Maria Serna Higuita, Alaleh Gheissari, Nazym Nigmatullina, Marcin Tkaczyk, Halina Borzecka, Radovan Bogdanovic, Sevgi Mir, Thomas Klopstock, Holger Prokisch, Cornelia Kornblum, Cui-Hua Liu, Shu-Zhen Sun, Yang Dong, Xiao-Wen Wang, Jiang-Wei Luan

المصدر: Kidney International, 102, 3, pp. 604-612
Kidney Int. 102, 604-612 (2022)
Kidney International, 102, 604-612

مصطلحات موضوعية: Mitochondrial Diseases, Muscle Weakness, Nephrotic Syndrome, Ubiquinone, Coq2, Coq6, Coq8b, Coq(10) Supplementation Therapy, Eskd, Coenzyme Q(10) Deficiency, Genetic Kidney Disease, Hereditary, Kidney Survival, Outcome, Proteinuria Reduction, Kidney, Proteinuria, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Nephrology, Dietary Supplements, Mutation, Humans, Ataxia, Steroids

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b84c27b3e90b69a46a805c20918a32ef
http://hdl.handle.net/10852/100389

المؤلفون: Jasmina Ćomić, Korbinian M. Riedhammer, Roman Günthner, Christian W. Schaaf, Patrick Richthammer, Hannes Simmendinger, Donald Kieffer, Riccardo Berutti, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Jovana Putnik, Nataša Stajic, Adrian Lungu, Oliver Gross, Lutz Renders, Uwe Heemann, Matthias C. Braunisch, Thomas Meitinger, Julia Hoefele

مصطلحات موضوعية: Dermatology, Emergency Medicine, Gastroenterology and Hepatology, Geriatrics and Gerontology, Intensive Care, Medical Genetics (excl. Cancer Genetics), Nephrology and Urology, Nuclear Medicine, Orthopaedics, Otorhinolaryngology, Pathology (excl. Oral Pathology), Radiology and Organ Imaging, Foetal Development and Medicine, Obstetrics and Gynaecology, Family Care, Primary Health Care, Medical and Health Sciences not elsewhere classified, type-IV-collagen-related nephropathy, Alport syndrome, COL4A3, COL4A4, COL4A5

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_The_multifaceted_phenotypic_and_genotypic_spectrum_of_type-IV-collagen-related_nephropathy_A_human_genetics_department_experience_PDF/20743006

الاتاحة: https://doi.org/10.3389/fmed.2022.957733.s001
https://figshare.com/articles/dataset/Data_Sheet_1_The_multifaceted_phenotypic_and_genotypic_spectrum_of_type-IV-collagen-related_nephropathy_A_human_genetics_department_experience_PDF/20743006