부산대학교 도서관

Köttgen, Anna ; Cornec-Le Gall, Emilie ; Halbritter, Jan ; Kiryluk, Krzysztof ; Mallett, Andrew J. ; Parekh, Rulan S. ; Rasouly, Hila Milo ; Sampson, Matthew G. ; Tin, Adrienne ; Antignac, Corinne ; Ars, Elisabet ; Bergmann, Carsten ; Bleyer, Anthony J. ; Bockenhauer, Detlef ; Devuyst, Olivier ; Florez, Jose C. ; Fowler, Kevin J. ; Franceschini, Nora ; Fukagawa, Masafumi ; Gale, Daniel P. ; Gbadegesin, Rasheed A. ; Goldstein, David B. ; Grams, Morgan E. ; Greka, Anna ; Gross, Oliver ; Guay-Woodford, Lisa M. ; Harris, Peter C. ; Hoefele, Julia ; Hung, Adriana M. ; Knoers, Nine V.A.M. ; Kopp, Jeffrey B. ; Kretzler, Matthias ; Lanktree, Matthew B. ; Lipska-Ziętkiewicz, Beata S. ; Nicholls, Kathleen ; Nozu, Kandai ; Ojo, Akinlolu ; Parsa, Afshin ; Pattaro, Cristian ; Pei, York ; Pollak, Martin R. ; Rhee, Eugene P. ; Sanna-Cherchi, Simone ; Savige, Judy ; Sayer, John A. ; Scolari, Francesco ; Sedor, John R. ; Sim, Xueling ; Somlo, Stefan ; Susztak, Katalin ; Tayo, Bamidele O. ; Torra, Roser ; van Eerde, Albertien M. ; Weinstock, André ; Winkler, Cheryl A. ; Wuttke, Matthias ; Zhang, Hong ; King, Jennifer M. ; Cheung, Michael ; Jadoul, Michel ; Winkelmayer, Wolfgang C. ; Gharavi, Ali G.

In Kidney International June 2022 101(6):1126-1141

Trautmann A; Division of Pediatric Nephrology, University Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany.; Hofstetter J; Division of Pediatric Nephrology, University Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany.; Lipska-Ziętkiewicz B; Rare Diseases Centre and Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland.; Tsygin A; Department of Pediatric Nephrology, National Medical and Research Center for Children's Health, Moscow, Russia.; Ogarek I; Department of Pediatric Nephrology, Jagiellonian University Medical College, Krakow, Poland.; Saeed B; Farah Association for Child with Kidney Disease, Damascus, Syria.; Szczepanska M; Department of Pediatrics, School of Medicine with the Division of Dentistry, Zabrze, Poland.; Azocar M; Department of Pediatric Nephrology, Hospital Luis Calvo Mackenna-Facultad de Medicina Universidad de Chile, Santiago de Chile, Chile.; Emma F; Department of Pediatric Subspecialties, Nephrology and Dialysis Unit, Children's Hospital Bambino Gesù, IRCCS, Rome, Italy.; Ozaltin F; Department of Pediatric Nephrology, Nephrogenetics Laboratory, Center for Biobanking and Genomics, Hacettepe University, Ankara, Türkiye.; Department of Bioinformatics, Nephrogenetics Laboratory, Center for Biobanking and Genomics, Hacettepe University, Ankara, Türkiye.; Caliskan S; Pediatric Nephrology Departement, Cerrahpaşa Medical Faculty, Istanbul University-Cerrahpasa, Türkiye.; Bodria M; Dipartimento di Medicina Clinica e Sperimentale, University of Studies of Parma, Parma, Italy.; Division of Nephrology, Dialysis and Transplantation, IRCCS Giannina Gaslini, Genoa, Italy.; Paripovic D; Department of Pediatric Nephrology, University Children's Hospital, Belgrade, Serbia.; Tkaczyk M; Department of Pediatrics, Immunology and Nephrology, Polish Mothers Memorial Hospital Research Institute, Lodz, Poland.; Oh J; Department of Pediatric Nephrology, University Children's Hospital, Hamburg, Germany.; Boutaba M; Department of Pediatric Nephrology, Nefissa Hammond (ex Parnet) Hospital, Algers, Algeria.; Jardim H; Department of Pediatric Nephrology, Centre Hospitalar, Porto, Portugal.; Yilmaz A; Department of Pediatric Nephrology, Istanbul Medical Faculty, Istanbul, Türkiye.; Csaicsich D; Department of Pediatrics, Medical University Vienna, Vienna, Austria.; Ranchin B; Pediatric Nephrology Unit, Hôpital Femme Mere Enfant, Hospices Civils de Lyon, France.; Jankauskiene A; Pediatric Center, Institute of Clinical Medicine, Vilnius University, Lithuania.; Pasini A; Pediatric Nephrology and Dialysis Unit, S.Orsola-Malpighi Hospital, Bologna, Italy.; Bitzan M; Kidney Center of Excellence, Dubai Al Jalila Children's Hospital, Dubai, United Arab Emirates.; Nigmatullina N; Department of Nephrology, Asfendiyarov Kazakh National Medical University, Almaty, Kazakhstan.; Tory K; First Department of Pediatrics, Semmelweis University, Budapest, Hungary.; Zieg J; Department of Pediatics, University Hospital Motol, Prague, Czech Republic.; Camilla R; Pediatric Nephrology, Dialysis, Transplantation Unit, Regina Margherita Children Hospital, Torino, Italy.; Hooman N; Department of Pediatrics, School of Medicine, Aliasghar Clinical Research Development Center, Iran University of Medical Sciences, Tehran, Iran.; Schaefer F; Division of Pediatric Nephrology, University Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany.

Publisher: Elsevier Country of Publication: United States NLM ID: 101684752 Publication Model: eCollection Cited Medium: Internet ISSN: 2468-0249 (Electronic) Linking ISSN: 24680249 NLM ISO Abbreviation: Kidney Int Rep Subsets: PubMed not MEDLINE

Podolec P; Department of Cardiac and Vascular Diseases, Institute of Cardiology, Jagiellonian University Medical College, Kraków, Poland.; Department of Cardiovascular Disease, Jagiellonian University Medical College, Centre for Rare Cardiovascular Diseases, John Paul II Hospital, Kraków, Poland.; Mitkowski P; 1st Department of Cardiology, Chair of Cardiology, Poznan University of Medical Sciences, Poznań, Poland.; Słowik A; Department of Neurology, Jagiellonian University Medical College, Kraków, Poland.; Gala-Błądzińska A; Department of Internal Medicine, Nephrology and Endocrinology with Nuclear Medicine Laboratory and Dialysis Therapy Center, Clinical Provincial Hospital No. 2 of St. Jadwiga in Rzeszow, College of Medical Sciences, University of Rzeszow, Rzeszów, Poland.; Gancarczyk U; Department of Cardiovascular Disease, Jagiellonian University Medical College, Centre for Rare Cardiovascular Diseases, John Paul II Hospital, Kraków, Poland.; Gil R; National Medical Institute of the Ministry of Interior and Administration, Warszawa, Poland.; Grodzicki T; Department of Internal Medicine and Gerontology, Jagiellonian University Medical College, Kraków, Poland.; Kaczmarek K; Department of Electrocardiology, Medical University of Lodz, Łódź, Poland.; Kieć-Wilk B; Laboratory of Rare Metabolic Diseases, Jagiellonian University Medical College, John Paul II Hospital, Kraków, Poland.; Kłopotowski M; Cardinal Wyszynski National Institute of Cardiology, Warszawa, Poland.; Kostkiewicz M; Department of Cardiac and Vascular Diseases, Institute of Cardiology, Jagiellonian University Medical College, Kraków, Poland.; Department of Cardiovascular Disease, Jagiellonian University Medical College, Centre for Rare Cardiovascular Diseases, John Paul II Hospital, Kraków, Poland.; Krajewska M; Department of Nephrology and Transplantation Medicine, Medical University of Wroclaw, Wrocław, Poland.; Department of Nephrology and Transplantation Medicine, Jan Mikulicz-Radecki University Clinical Hospital in Wroclaw, Wrocław, Poland.; Kusztal M; Department of Nephrology and Transplantation Medicine, Jan Mikulicz-Radecki University Clinical Hospital in Wroclaw, Wrocław, Poland.; Lipska-Ziętkiewicz B; Laboratory of Clinical Genetics, Department and Chair of Medical Biology and Genetics, Medical University of Gdansk, Gdańsk, Poland.; Mizia-Stec K; 1st Department of Cardiology, Medical University of Silesia, Katowice, Poland; Centre of the European Reference Network for Rare, Low Prevalence, or Complex Diseases of the Heart (ERN GUARD Heart).; Nowicki M; Department of Nephrology, Hypertension, Transplantation, and Internal Medicine, Central Clinical Hospital of the Medical University of Lodz, Łódź, Poland.; Muras-Szwedziak K; Department of Clinical and Laboratory Genetics, Central Clinical Hospital, Medical University of Lodz, Łódź, Poland.; Pawlaczyk K; Department and Clinic of Nephrology, Transplantation Medicine and Internal Diseases, University Clinical Hospital, Medical University in Poznan, Poznań, Poland.; Przysło Ł; Clinic of Developmental Neurology and Epileptology, 'Polish Mother's Health Center Institute', Łódź, Poland.; Rejdak K; Department of Neurology, Medical University of Lublin, Lublin, Poland.; Rokicki D; Clinic of Pediatrics, Nutrition and Metabolic Diseases, 'The Memorial Institute of Mother and Child Health', Warszawa, Poland.; Szepietowski J; Department and Clinic of Dermatology, Venereology, and Allergology, Medical University in Wroclaw, Wrocław, Poland.; Szczepara S; Department of Cardiovascular Disease, Jagiellonian University Medical College, Centre for Rare Cardiovascular Diseases, John Paul II Hospital, Kraków, Poland.; Śmigiel R; Clinic of Pediatrics, Endocrinology, Diabetology, and Metabolic Diseases, Medical University in Wroclaw, Wrocław, Poland.; Żuber Z; Department of Pediatrics, Andrzej Frycz Modrzewski Krakow University, Department of Older Children with Subdepartments of Neurology and Rheumatology, St. Louis Children's Hospital in Krakow, Kraków, Poland.; Życińska K; Department of Family Medicine, Medical University of Warsaw, Clinic of Rheumatology, Connective Tissue Diseases, National Medical Institute of the Ministry of Interior and Administration, Warszawa, Poland.; Maćkowiak S; Federation of Polish Patients.; Barnaś M; Department of Cardiovascular Disease, Jagiellonian University Medical College, Centre for Rare Cardiovascular Diseases, John Paul II Hospital, Kraków, Poland.; Komar M; Department of Cardiac and Vascular Diseases, Institute of Cardiology, Jagiellonian University Medical College, Kraków, Poland. moni_s@interia.pl.; Department of Cardiovascular Disease, Jagiellonian University Medical College, Centre for Rare Cardiovascular Diseases, John Paul II Hospital, Kraków, Poland. moni_s@interia.pl.

Publisher: Via Medica Country of Publication: Poland NLM ID: 0376352 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1897-4279 (Electronic) Linking ISSN: 00229032 NLM ISO Abbreviation: Kardiol Pol Subsets: MEDLINE

Koyun, Mustafa; Çomak, Elif; Akman, Sema

Pediatric Nephrology (PEDIATR NEPHROL), Apr2019; 34(4): 737-738. (2p)

Daga, Sergio; Ding, Jie; Deltas, Constantinos; Savige, Judy; Lipska-Ziętkiewicz, Beata S.; Hoefele, Julia; Flinter, Frances; Gale, Daniel P.; Aksenova, Marina; Kai, Hirofumi; Perin, Laura; Barua, Moumita; Torra, Roser; Miner, Jeff H.; Massella, Laura; Ljubanović, Danica Galešić; Lennon, Rachel; Weinstock, Andrè B.; Knebelmann, Bertrand; Cerkauskaite, Agne; Gear, Susie; Gross, Oliver; Turner, A. Neil; Baldassarri, Margherita; Pinto, Anna Maria; Renieri, Alessandra

European Journal of Human Genetics. 30(5):507-516

Daga, Sergio; Ding, Jie; Deltas, Constantinos; Savige, Judy; Lipska-Ziętkiewicz, Beata S.; Hoefele, Julia; Flinter, Frances; Gale, Daniel P.; Aksenova, Marina; Kai, Hirofumi; Perin, Laura; Barua, Moumita; Torra, Roser; Miner, Jeff H.; Massella, Laura; Ljubanović, Danica Galešić; Lennon, Rachel; Weinstock, Andrè B.; Knebelmann, Bertrand; Cerkauskaite, Agne; Gear, Susie; Gross, Oliver; Turner, A. Neil; Baldassarri, Margherita; Pinto, Anna Maria; Renieri, Alessandra

European Journal of Human Genetics. 32(1):130-130

Daga, Sergio; Ding, Jie; Deltas, Constantinos; Savige, Judy; Lipska-Ziętkiewicz, Beata S.; Hoefele, Julia; Flinter, Frances; Gale, Daniel; Aksenova, Marina; Kai, Hirofumi; Perin, Laura; Barua, Moumita; Torra Balcells, Roser; Miner, Jeff H.; Massella, Laura; Ljubanović, Danica Galešić; Lennon, Rachel; Weinstock, Andrè B.; Knebelmann, Bertrand; Cerkauskaite, Agne; Gear, Susie; Gross, Oliver; Turner, A. Neil; Baldassarri, Margherita; Pinto, Anna Maria; Renieri, Alessandra; Universitat Autònoma de Barcelona

Taryma-Leśniak O; Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, Poland.; Buczkowski K; Department of Pathology and Neuropathology, Medical University of Gdansk, Poland.; Klepinowski T; Department of Neurosurgery, Pomeranian Medical University in Szczecin, Poland.; Jankowski M; Department of Biology and Genetics, Medical University of Gdansk, Poland.; Retfiński S; Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, Poland.; Sagan B; Department of Neurosurgery, Pomeranian Medical University in Szczecin, Poland.; Sagan L; Department of Neurosurgery, Pomeranian Medical University in Szczecin, Poland.; Szutowicz E; Department of Oncology and Radiotherapy, Medical University of Gdansk, Poland.; Winiarski K; Department of Oncology and Radiotherapy, Medical University of Gdansk, Poland.; Masztalewicz M; Department of Neurology, Pomeranian Medical University in Szczecin, Poland.; Nowacki P; Department of Neurology, Pomeranian Medical University in Szczecin, Poland.; Sobalska-Kwapis M; Biobank Laboratory, Department of Molecular Biophysics, University of Lodz, Poland.; Strapagiel D; Biobank Laboratory, Department of Molecular Biophysics, University of Lodz, Poland.; Kloc W; Department of Neurosurgery, Copernicus Hospital, Gdansk, Poland.; Department of Psychology and Sociology of Health and Public Health, School of Public Health, Collegium Medicum, University of Warmia and Mazury in Olsztyn, Poland.; Lipska-Ziętkiewicz B; Department of Biology and Genetics, Medical University of Gdansk, Poland.; Iżycka-Świeszewska E; Department of Pathology and Neuropathology, Medical University of Gdansk, Poland.; Wojdacz TK; Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, Poland.

Publisher: Termedica Country of Publication: Poland NLM ID: 9437431 Publication Model: Print Cited Medium: Internet ISSN: 1509-572X (Electronic) Linking ISSN: 1509572X NLM ISO Abbreviation: Folia Neuropathol Subsets: MEDLINE

Jankowski, M.; Daca-Roszak, P.; Balasz-Chmielewska, I.; Ustaszewski, A.; Zurowska, A.; Lipska-Zietkiewicz, B. S.; Zietkiewicz, E.

HUMAN MUTATION; MAR 21 2024, 2024 p8205102 9p.

Torra R; Nephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), Departament de Medicina, Universitat Autònoma de Barcelona, RICORS2040, Barcelona, Spain.; Lipska-Zietkiewicz B; Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdańsk, Gdańsk, Poland.; Rare Diseases Centre, Medical University of Gdańsk, Gdańsk, Poland.; Acke F; Department of Otorhinolaryngology, 1P1, Ghent University / Ghent University Hospital, Ghent, Belgium.; Antignac C; Laboratory of Hereditary Kidney Diseases, Inserm UMR 1163, Imagine Institute, Université Paris Cite, Paris, France.; Becker JU; Institute of Pathology, University Hospital of Cologne, Cologne, Germany.; Cornec-Le Gall E; University Brest, Inserm, UMR 1078, GGB, CHU Brest, Centre de référence MARHEA, filière ORKID, Brest, France.; van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Feltgen N; Department of Ophthalmology, University Hospital Basel, Basel, Switzerland.; Ferrari R; Italian Association of Alport Syndrome, (ASAL) ERKNet ePAG Castellarano, Emilia-Romaña, Italia.; Gale DP; Centre for Kidney and Bladder Health, University College London, London, UK.; Gear S; International Alport Syndrome Alliance and Alport UK, ERKNet ePAG, Cirencester, Gloucestershire, UK.; Gross O; Department of Nephrology and Rheumatology, University Medical Center Göttingen, Göttingen, Germany.; Haeberle S; Division of Paediatric Nephrology, Center for Paediatrics and Adolescent Medicine, University Hospital, Heidelberg, Germany.; Heidet L; Néphrologie Pédiatrique, Centre de Référence MARHEA, APHP, Hôpital universitaire Necker-Enfants Malades, Paris, France.; Lennon R; Department of Paediatric Nephrology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.; Massella L; Division of Nephrology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Pfau K; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Pizarro MDPV; Otolaryngology-Head and Neck Surgery, Hospital de Sant Pau i la Santa Creu, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autónoma de Barcelona, Barcelona, Spain.; Topaloglu R; Division of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Wlodkowski T; Division of Paediatric Nephrology, Center for Paediatrics and Adolescent Medicine, University Hospital, Heidelberg, Germany.; Zealey H; International Alport Syndrome Alliance and Alport UK, ERKNet ePAG, Cirencester, Gloucestershire, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 8706402 Publication Model: Print Cited Medium: Internet ISSN: 1460-2385 (Electronic) Linking ISSN: 09310509 NLM ISO Abbreviation: Nephrol Dial Transplant Subsets: MEDLINE

Kachmar J; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France.; Boyer O; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France.; Service de néphrologie pédiatrique Centre de Référence MARHEA, Hôpital Necker-Enfants Malades, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France.; Lipska-Ziętkiewicz B; Centre for Rare Diseases and Clinical Genetics Unit, Medical University of Gdansk, Gdansk, Poland.; Morinière V; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France.; Gribouval O; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France.; Heidet L; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France.; Service de néphrologie pédiatrique Centre de Référence MARHEA, Hôpital Necker-Enfants Malades, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France.; Balasz-Chmielewska I; Department of Pediatrics, Nephrology and Hypertension, Medical University of Gdansk, Gdansk, Poland.; Benetti E; Pediatric Nephrology Unit, Padua University Hospital, Padua, Italy.; Cloarec S; Service de Néphrologie-Hémodialyse pédiatrique, Centre de compétence Maladies Rénales Rares, CHRU Tours-Clocheville, Tours, France.; Csaicsich D; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Decramer S; Pediatric Nephrology Unit, Toulouse University Hospital; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest, SoRare; INSERM U1048, Institute of Cardiovascular and Metabolic Diseases, Toulouse, France.; Gellermann J; Klinik für Pädiatrie/Nephrologie, Charité Campus Virchox-Klinikum, Berlin, Germany.; Guigonis V; Pediatrics, Hôpital de la mère et de l'enfant, Limoges, France.; Hogan J; Pediatric Nephrology, Hôpital Universitaire Robert-Debré; Paris Translational Research Center for Organ Transplantation, Inserm UMR-S970, Université Paris Cité, Paris, France.; Bayazit AK; Division of Pediatric Nephrology, Cukurova University, Adana, Türkiye.; Melk A; Children's Hospital, Hannover Medical School, Hannover, Germany.; Nigmatullina N; National Research Center for Maternal and Child Heatlh, Astana, Kazakhstan.; Oh J; Pediatric Nephrology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Ozaltin F; Department of Pediatric Nephrology, Hacettepe University, Faculty of Medicine, Sihhiye, Ankara, Türkiye.; Ranchin B; Pediatric Nephrology Unit, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Université de Lyon, Lyon, France.; Tsimaratos M; Faculté de médecine de Marseille, Université de la Méditerranée, Marseille, France.; Trautmann A; Department of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University of Heidelberg, Germany.; Antignac C; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France.; Schaefer F; Department of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University of Heidelberg, Germany.; Dorval G; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France.

Publisher: Elsevier Country of Publication: United States NLM ID: 101684752 Publication Model: eCollection Cited Medium: Internet ISSN: 2468-0249 (Electronic) Linking ISSN: 24680249 NLM ISO Abbreviation: Kidney Int Rep Subsets: PubMed not MEDLINE

Marbach F; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Lipska-Ziętkiewicz BS; Centre for Rare Diseases, Clinical Genetics Unit, Department of Biology and Genetics, Medical University of Gdańsk, Gdańsk, Poland.; Knurowska A; Department of Radiology, Medical University of Gdańsk, Gdańsk, Poland.; Michaud V; University of Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Margot H; University of Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Lespinasse J; CH-Chambéry, Génétique Chromosomique, Chambéry, France.; Tran Mau Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR1231 Génétique des Anomalies du Développement GAD, Dijon, France.; Coubes C; Service de Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France.; Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Grosch S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Roggia C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Kalsner L; Departments of Neurology and Pediatrics, Connecticut Children's Medical Center and University of Connecticut School of Medicine, Farmington, Connecticut, USA.; Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR1231 Génétique des Anomalies du Développement GAD, Dijon, France.; Afenjar A; APHP, Sorbonne Université, Centre de Référence Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale, Hôpital Trousseau, Paris, France.; Héron B; Sorbonne Université, Service de Neuropédiatrie-Pathologie du développement, Hôpital Trousseau AP-HP.SU, FHU I2D2, Paris, France.; Keren B; APHP, Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France.; Caro P; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Koczkowska, Magdalena; Jakalski, Marcin; Birkholz-Walerzak, Dorota; Kostecka, Anna; Iliszko, Mariola; Wojcik, Magdalena; Lewandowski, Krzysztof; Milska-Musa, Katarzyna; Buckley, Patrick G.; Drezek, Kinga; Juhas, Ulana; Kuziemska, Ewa; Maciejewska, Agnieszka; Pawlowski, Ryszard; Wasag, Bartosz; Filipowicz, Natalia; Chojnowska, Katarzyna; Lawrynowicz, Urszula; Dumanski, Jan P.; Lipska-Zietkiewicz, Beata S.; Mieczkowski, Jakub; Piotrowski, Arkadiusz

Scientific Reports. 12(1)

Trautmann A; Division of Pediatric Nephrology, University Center for Pediatrics and Adolescent Medicine, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. agnes.trautmann@med.uni-heidelberg.de.; Seide S; Institute of Medical Biometry, University of Heidelberg, Heidelberg, Germany.; Lipska-Ziętkiewicz BS; Rare Diseases Centre and Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland.; Ozaltin F; Department of Pediatric Nephrology, Nephrogenetics Laboratory and Center for Biobanking and Genomics, Hacettepe University, Ankara, Turkey.; Szczepanska M; Department of Pediatrics, School of Medicine With the Division of Dentistry, Zabrze, Poland.; Azocar M; Pediatric Nephrology, Hospital Luis Calvo Mackenna-Facultad de Medicina Universidad de Chile, Santiago de, Chile.; Jankauskiene A; Pediatric Center, Institute of Clinical Medicine, Vilnius University, Vilnius, Lithuania.; Zurowska A; Department of Pediatrics, Medical University of Gdansk, Nephrology & Hypertension, Gdansk, Poland.; Caliskan S; Pediatric Nephrology Department, Cerrahpaşa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.; Saeed B; Farah Association for Child With Kidney Disease in Syria, Damascus, Syria.; Morello W; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca'Granda, Ospedale Maggiore Policlinico, Milano, Italy.; Emma F; Department of Pediatric Subspecialties, Nephrology and Dialysis Unit, Children's Hospital Bambino Gesù, IRCCS, Rome, Italy.; Litwin M; Department of Pediatric Nephrology, The Children's Memorial Health Center, Warsaw, Poland.; Tsygin A; National Medical and Research Center for Children's Health, Moscow, Russia.; Fomina S; Department of Pediatric Nephrology, State Institution 'Institute of Nephrology of NAMS of Ukraine', Kyiv, Ukraine.; Wasilewska A; Department of Pediatric Nephrology, University Hospital, Bialystok, Poland.; Melk A; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.; Benetti E; Pediatric Nephrology, Dialysis and Transplant Unit, Department of Women's and Children's Health, Padua University Hospital, Padua, Italy.; Gellermann J; Clinic for Pediatric Nephrology, Charite Hospital, Berlin, Germany.; Stajic N; Department of Pediatric Nephrology, Institute of Mother and Healthcare of Serbia, Belgrade, Serbia.; Tkaczyk M; Pediatric Nephrology Division, Polish Mothers Memorial Hospital Research Institute, Lodz, Poland.; Baiko S; National Center for Pediatric Nephrology and Renal Replacement Therapy, Belarusian State Medical University, Minsk, Belarus.; Prikhodina L; Division of Inherited & Acquired Kidney Diseases, Research & Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia.; Csaicsich D; Department of Pediatrics, Medical University Vienna, Vienna, Austria.; Medynska A; Department of Pediatric Nephrology, Wroclaw Medical University, Wroclaw, Poland.; Krisam R; Institute of Medical Biometry, University of Heidelberg, Heidelberg, Germany.; Breitschwerdt H; Institute of Medical Biometry, University of Heidelberg, Heidelberg, Germany.; Schaefer F; Division of Pediatric Nephrology, University Center for Pediatrics and Adolescent Medicine, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Trautmann, Agnes; Schnaidt, Sven; Lipska-Ziętkiewicz, Beata S.; Bodria, Monica; Ozaltin, Fatih; Emma, Francesco; Anarat, Ali; Melk, Anette; Azocar, Marta; Oh, Jun; Saeed, Bassam; Gheisari, Alaleh; Caliskan, Salim; Gellermann, Jutta; Higuita, Lina Maria Serna; Jankauskiene, Augustina; Drozdz, Dorota; Mir, Sevgi; Balat, Ayse; Szczepanska, Maria; Paripovic, Dusan; Zurowska, Alexandra; Bogdanovic, Radovan; Yilmaz, Alev; Ranchin, Bruno; Baskin, Esra; Erdogan, Ozlem; Remuzzi, Giuseppe; Firszt-Adamczyk, Agnieszka; Kuzma-Mroczkowska, Elzbieta; Litwin, Mieczyslaw; Murer, Luisa; Tkaczyk, Marcin; Jardim, Helena; Wasilewska, Anna; Printza, Nikoleta; Fidan, Kibriya; Simkova, Eva; Borzecka, Halina; Staude, Hagen; Hees, Katharina; Schaefer, Franz; Azocar, M; Quiroz, Lily; Higuita, LM Serna; Dušek, Jiří; Ranchin, B; Fischbach, Michel; Davitaia, Tinatin; Gellerman, J; Oh, J; Melk, A; Schaefer, F; Wigger, Marianne; Printza, N; Sallay, Peter; Gheissari, Alaleh; Noris, Marina; Pasini, Andrea; Ghiggeri, Gian Marco; Ardissino, Gianluigi; Benetti, Elisa; Emma, F; Aoun, Bilal; Abou-Jaoudé, Pauline; Jankauskiene, A; Wasilewska, A; Gacka, Ewa; Zurowska, A; Drozdz, D; Tkaczyk, M; Lodz, Małgorzata Stańczyk; Borzecka, H; Silska, Magdalena; Jarmolinski, Tomasz; Firszt-Adamczyk, A; Ksiazek, Joanna; Kuzma-Mroczkowska, E; Medynska, Anna; Szczepanska, M; Afonso, Alberto Caldas; Jardim, H; Belgrade, Amira Peco-Antic; Bogdanovic, R; Krmar, Rafael T; Simonetti, Giacomo D; Saeed, B; Anarat, A; Balat, A; Baskin, E; Cakar, Nilgun; Erdogan, O; Özcakar, Birsin; Ozaltin, F; Sakallioglu, Onur; Soylemezoglu, Oguz; Akman, Sema; Gok, Faysal; Caliskan, S; Candan, Cengiz; Yilmaz, A; Mir, S; Akil, Ipek; Ertan, Pelin; Özkaya, Ozan; Kalyoncu, Mukaddes; Simkova, E; Alhammadi, Entesar; Sobko, Roman

Journal of the American Society of Nephrology. Oct 01, 2017 28(10):3055-3065

Lu L; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore.; Yap YC; Department of Paediatrics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.; Nguyen DQ; Nephrology and Endocrinology Department, Children's Hospital 1, Ho Chi Minh, Vietnam.; Chan YH; Biostatistics, National University of Singapore, Singapore, Singapore.; Ng JL; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore.; Paediatrics, National University of Singapore, Singapore, Singapore.; Zhang YC; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore.; Paediatrics, National University of Singapore, Singapore, Singapore.; Chan CY; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore.; Paediatrics, National University of Singapore, Singapore, Singapore.; Than M; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore.; Paediatrics, National University of Singapore, Singapore, Singapore.; Liu ID; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore.; Asim S; Paediatric Nephrology, National Institute of Child Health, Karachi, Pakistan.; Moorani K; Paediatric Nephrology, National Institute of Child Health, Karachi, Pakistan.; Naeem B; Paediatric Nephrology, National Institute of Child Health, Karachi, Pakistan.; Ijaz I; Department of Pediatrics, King Edward Medical University, Lahore, Pakistan.; Nguyen TMT; Children Hospital 2, Ho Chi Minh, Vietnam.; Lee ML; Department of Paediatrics, Hospital Tuanku Ja'afar Seremban, Seremban, Malaysia.; Eng C; Department of Paediatrics, Hospital Tuanku Ja'afar Seremban, Seremban, Malaysia.; Huque SS; Paediatric Nephrology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh.; Ng YH; Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Ganesan I; Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Chao SM; Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Chong SL; Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Tan PH; Anatomical Pathology, Singapore General Hospital, Singapore, Singapore.; Loh A; Anatomical Pathology, Singapore General Hospital, Singapore, Singapore.; Davila S; Institute of Precision Medicine, Duke-NUS, Singapore, Singapore.; Kumar V; Cancer and Stem Cell Biology, Duke-NUS, Singapore, Singapore.; Ling JZ; Biostatistics, Singapore Clinical Research Institute, Singapore, Singapore.; Moorakonda RB; Biostatistics, Singapore Clinical Research Institute, Singapore, Singapore.; Tan KM; Molecular Diagnosis Centre, National University Hospital, Singapore, Singapore.; Ng AY; Molecular Diagnosis Centre, National University Hospital, Singapore, Singapore.; Poon KS; Molecular Diagnosis Centre, National University Hospital, Singapore, Singapore.; Schaefer F; Department of Paediatrics Nephrology, Center for Paediatrics and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.; Lipska-Zietkiewicz B; Clinical Genetics Unit, Medical University of Gdansk, Gdańsk, Poland.; Yap HK; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore.; Paediatrics, National University of Singapore, Singapore, Singapore.; Ng KH; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore.; Paediatrics, National University of Singapore, Singapore, Singapore.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

S. DROVANDI; B. Lipska-Ziętkiewicz Stefania; F. Ozaltin; F. Emma; O. Boyer; H. Xu; J. Mao; K.M. Riedhammer; J. Hoefele; S.L. Stenton; A.N. Tsygin; S. Fomina; E. Benetti; A.M. Schijvens; F. Schaefer

Kidney International Reports. 7:S358

Daca-Roszak P; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.; Fiedorowicz J; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.; Department of Animal Physiology, Biochemistry and Biostructure, Poznan University of Life Science, Poznan, Poland.; Jankowski M; Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland.; Ciesielka M; Chair and Department of Forensic Medicine, Medical University of Lublin, Lublin, Poland.; Teresiński G; Chair and Department of Forensic Medicine, Medical University of Lublin, Lublin, Poland.; Lipska-Zietkiewicz B; Centre for Rare Diseases, Medical University of Gdansk, Gdansk, Poland; Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland.; Zietkiewicz E; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.; Grzybowski T; Department of Forensic Medicine, Faculty of Medicine, Collegium Medicum, Nicolaus Copernicus University, Bydgoszcz, Poland.; Skonieczna K; Department of Forensic Medicine, Faculty of Medicine, Collegium Medicum, Nicolaus Copernicus University, Bydgoszcz, Poland. katarzyna.skonieczna@cm.umk.pl.

Publisher: Springer Country of Publication: England NLM ID: 9514582 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2190-3883 (Electronic) Linking ISSN: 12341983 NLM ISO Abbreviation: J Appl Genet Subsets: MEDLINE

Daca-Roszak P; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.; Fiedorowicz J; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.; Department of Animal Physiology, Biochemistry and Biostructure, Poznan University of Life Science, Poznan, Poland.; Jankowski M; Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland.; Ciesielka M; Chair and Department of Forensic Medicine, Medical University of Lublin, Lublin, Poland.; Teresiński G; Chair and Department of Forensic Medicine, Medical University of Lublin, Lublin, Poland.; Lipska-Ziętkiewicz B; Centre for Rare Diseases, Medical University of Gdansk, Gdansk, Poland; Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland.; Ziętkiewicz E; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.; Grzybowski T; Department of Forensic Medicine, Faculty of Medicine, Collegium Medicum, Nicolaus Copernicus University, Bydgoszcz, Poland.; Skonieczna K; Department of Forensic Medicine, Faculty of Medicine, Collegium Medicum, Nicolaus Copernicus University, Bydgoszcz, Poland. katarzyna.skonieczna@cm.umk.pl.

Publisher: Springer Country of Publication: England NLM ID: 9514582 Publication Model: Print Cited Medium: Internet ISSN: 2190-3883 (Electronic) Linking ISSN: 12341983 NLM ISO Abbreviation: J Appl Genet Subsets: PubMed not MEDLINE; MEDLINE

Bielska, O.; Lipska-Ziętkiewicz, B.; Szczepańska, M.; Roszkowska-Blaim, D.; Wasilewska, A.; Taranta-Janusz, K.; Jadeszko, I.; Hyla-Klekot, L.; Taraszkiewicz, J.; Pańczyk-Tomaszewska, M.; Kuźma-Mroczkowska, E.; Zachwieja, J.; Ostalska-Nowicka, D.; Jobs, K.; Tkaczyk, M.; Jander, A.; Stankiewicz, R.; Zwolińska, D.; Pietrzyk, J.A.; Jarocka-Cyrta, E.; Śniadecka, M.; Brodkiewicz, A.; Zajączkowska, Maria; Dębska-Ślizień, A.; Żurowska, A.