부산대학교 도서관

Heath, Oliver ; Del Caño-Ochoa, Francisco ; Baris, Safa ; Carrozzo, Rosalba ; Coman, David ; Distelmaier, Felix ; Ellaway, Carolyn ; Feichtinger, Rene G. ; Finocchi, Andrea ; Guerrero-Castillo, Sergio ; Halligan, Rebecca ; Hannibal, Iris ; Kritzer, Amy ; Lichter-Konecki, Uta ; Merkevicius, Kajus ; Panis, Bianca ; Pitceathly, Robert D.S. ; Pizzamiglio, Chiara ; Iwanicka-Pronicka, Katarzyna ; Rahman, Shamima ; Seltzer, Laurie ; Siepermann, Meinolf ; Tal, Galit ; Wevers, Ron A. ; Ziętkiewicz, Szymon ; Ramón-Maiques, Santiago ; Mayr, Johannes A. ; Wortmann, Saskia B.

In Molecular Genetics and Metabolism April 2026 147(4)

Roesch, Sebastian ; O'Sullivan, Anna ; Tschani, Stefan ; Baghdasaryan, Anna ; Balasubramaniam, Shanti ; Barić, Ivo ; de Boer, Lonneke ; Grünert, Sarah C. ; Guzek, Anna ; Janssen, Mirian ; Krumina, Zita ; Koenig, Mary Kay ; Lewkowitz, Ashleigh M. ; Mochel, Fanny ; Naldi, Arianne Monge ; Plecko, Barbara ; Öztürk, Kerem ; O'Grady, Lauren ; Riordan, Gillian ; Rymen, Daisy ; Sahai, Inderneel ; Santer, René ; Schiff, Manuel ; Stettner, Georg M. ; Tsiakas, Konstantinos ; Uçar, Sema Kalkan ; Uzun, Özlem Ünal ; Weigel, Corina ; Witters, Peter ; Merkevicius, Kajus ; Mayr, Johannes A. ; Wortmann, Saskia B. ; Iwanicka-Pronicka, Katarzyna

In Molecular Genetics and Metabolism July 2025

Cieślikowska A; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Madej-Pilarczyk A; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Iwanowski P; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Iwanicka-Pronicka K; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Wicher D; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Jędrzejowska M; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Department of Medical Genetics, Institute of Mother and Child, ul. Kasprzaka 17a, 01-211 Warsaw, Poland.; Jurkiewicz D; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Gawlik M; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Halat-Wolska P; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Błaszkiewicz J; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Mendrek I; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Młynek M; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Stawiński P; Department of Medical Genetics, Medical University of Warsaw, ul. Żwirki i Wigury 61, 02-091 Warsaw, Poland.; Kosińska J; Department of Medical Genetics, Medical University of Warsaw, ul. Żwirki i Wigury 61, 02-091 Warsaw, Poland.; Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Maas, RR; Iwanicka-Pronicka, K; Ucar, SK; Alhaddad, B; AlSayed, M; Al-Owain, MA; Al-Zaidan, HI; Balasubramaniam, S; Baric, I; Bubshait, DK

ANNALS OF NEUROLOGY. 82(6):1004-1015

Scala, M.; Wortmann, S.B.; Kaya, N.; Stellingwerff, M.D.; Pistorio, A.; Glamuzina, E.; van Karnebeek, C.D.; Skrypnyk, C.; Iwanicka-Pronicka, K.; Piekutowska-Abramczuk, D.; Ciara, E.; Tort, F.; Sheidley, B.; Poduri, A.; Jayakar, P.; Jayakar, A.; Upadia, J.; Walano, N.; Haack, T.B.; Prokisch, H.; Aldhalaan, H.; Karimiani, E.G.; Yildiz, Y.; Ceylan, A.C.; Santiago-Sim, T.; Dameron, A.; Yang, H.; Toosi, M.B.; Ashrafzadeh, F.; Akhondian, J.; Imannezhad, S.; Mirzadeh, H.S.; Maqbool, S.; Farid, A.; Al-Muhaizea, M.A.; Alshwameen, M.O.; Aldowsari, L.; Alsagob, M.; Alyousef, A.; Almass, R.; AlHargan, A.; Alwadei, A.H.; AlRasheed, M.M.; Colak, D.; Alqudairy, H.; Khan, S.; Lines, M.A.; Cazorla, M.; Ribes, A.; Morava, E.; Bibi, F.; Haider, S.; Ferla, M.P.; Taylor, J.C.; Alsaif, H.S.; Firdous, A.; Hashem, M.; Shashkin, C.; Koneev, K.; Kaiyrzhanov, R.; Efthymiou, S.; Genomics, Q.S.; Schmitt-Mechelke, T.; Ziegler, A.; Issa, M.Y.; Elbendary, H.M.; Striano, P.; Alkuraya, F.S.; Zaki, M.S.; Gleeson, J.G.; Barakat, T.S.; Bierau, J.; van der Knaap, M.S.; Maroofian, R.; Houlden, H.

Hum Mutat
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
Scala, M, Wortmann, S B, Kaya, N, Stellingwerff, M D, Pistorio, A, Glamuzina, E, van Karnebeek, C D, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, T B, Prokisch, H, Aldhalaan, H, Karimiani, E G, Yildiz, Y, Ceylan, A C, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, M B, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, H S, Maqbool, S, Farid, A, Al-Muhaizea, M A, Alshwameen, M O, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, A H, AlRasheed, M M, Colak, D, Alqudairy, H, Khan, S, Lines, M A, García Cazorla, M Á, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, M P, Taylor, J C, Alsaif, H S, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, Q S, Schmitt-Mechelke, T, Ziegler, A, Issa, M Y, Elbendary, H M, Striano, P, Alkuraya, F S, Zaki, M S, Gleeson, J G, Barakat, T S, Bierau, J, van der Knaap, M S, Maroofian, R & Houlden, H 2022, 'Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency', Human Mutation, vol. 43, no. 3, pp. 403-419. https://doi.org/10.1002/humu.24326
Human Mutation, 43, 3, pp. 403-419

Iwanicka-Pronicka, K. ; Guzek, A. ; Sarnecki, J. ; Tylki-Szymańska, A.

In International Journal of Pediatric Otorhinolaryngology June 2023 169

Kłaniewska M; Rydzanicz M; Bladowska J; Borys ‐ Iwanicka A; Iwanicka ‐ Pronicka K; Wasilewski R; Odnoczko E; Zubkiewicz‐Kucharska A; Smigiel R; Ploski R

American Journal of Medical Genetics Part A. 194

Peymani F; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Munich, Neuherberg 85764, Germany.; Ebihara T; Institute of Neurogenomics, Computational Health Center, Helmholtz Munich, Neuherberg 85764, Germany.; Smirnov D; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Munich, Neuherberg 85764, Germany.; Kopajtich R; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Munich, Neuherberg 85764, Germany.; Ando M; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima 890-8544, Japan.; Bertini E; Neuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital IRCCS, Rome 00165, Italy.; Carrozzo R; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy.; Diodato D; Neuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital IRCCS, Rome 00165, Italy.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Düsseldorf 40225, Germany.; Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, Beijing 100005, China.; Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano 20133, Italy.; Hempel M; Institute of Human Genetics, Heidelberg University, Heidelberg 69120, Germany.; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg 69120, Germany.; Iwanicka-Pronicka K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw 04-730, Poland.; Klopstock T; Department of Neurology, Friedrich-Baur-Institute, LMU University Hospital, Ludwig-Maximilians-Universität (LMU) München, Munich 81377, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich 81377, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich 81377, Germany.; Stenton SL; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Munich, Neuherberg 85764, Germany.; Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano 20133, Italy.; Liu Z; Department of Neurology, Beijing Children's Hospital, Capital Medical University, Beijing 100005, China.; Murtazina A; Research Centre for Medical Genetics, Moscow 115522, Russia.; Okamoto Y; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima 890-8544, Japan.; Department of Physical Therapy, Kagoshima University of School of Health Sciences, Kagoshima 890-8544, Japan.; Okazaki Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-8421, Japan.; Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw 04-730, Poland.; Rötig A; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris 75015, France.; Ryzhkova O; Research Centre for Medical Genetics, Moscow 115522, Russia.; Schlein C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.; Shagina O; Research Centre for Medical Genetics, Moscow 115522, Russia.; Takashima H; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima 890-8544, Japan.; Tsygankova P; Research Centre for Medical Genetics, Moscow 115522, Russia.; Zech M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Munich, Neuherberg 85764, Germany.; Meitinger T; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Shimura M; Institute of Neurogenomics, Computational Health Center, Helmholtz Munich, Neuherberg 85764, Germany.; Department of Metabolism, Chiba Children's Hospital, Chiba City 266-0007, Japan.; Murayama K; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-8421, Japan.; Department of Metabolism, Chiba Children's Hospital, Chiba City 266-0007, Japan.; Prokisch H; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Munich, Neuherberg 85764, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Munich, Munich 81377, Germany.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Stenton, Sarah L; Tesarova, Marketa; Sheremet, Natalia L; Catarino, Claudia; Carelli, Valerio; Ciara, Elżbieta; Curry, Kathryn; Engvall, Martin; Fleming, Leah R; Freisinger, Peter; Iwanicka-Pronicka, Katarzyna; Jurkiewicz, Elżbieta; Klopstock, Thomas; Koenig, Mary K; Kolářová, Hana; Kousal, Bohdan; Krylova, Tatiana; La Morgia, Chiara; Nosková, Lenka; Piekutowska-Abramczuk, Dorota; Russo, Sam N; Stránecký, Viktor; Tóthová, Iveta; Träisk, Frank; Prokisch, Holger

Brain
Brain 145(5), 1624-1631 (2022). doi:10.1093/brain/awac052
Brain 145, 1624-1631 (2022)

Halat-Wolska P; Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Pac M; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Obrycki Ł; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Wicher D; Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Iwanicka-Pronicka K; Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Bielska E; Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Chałupczyńska B; Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Siestrzykowska D; Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Kostrzewa G; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.; Stawiński P; Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.; Płoski R; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.; Litwin M; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Kalinowska, M.; Szczerbik, E.; Syczewska, M.; Święcicka, A.; Iwanicka-Pronicka, K.; Graff, K.

Gait & Posture.

Piekutowska-Abramczuk, D.; Assouline, Z.; Mataković, L.; Feichtinger, R.G.; Konarikova, E.; Jurkiewicz, E.; Stawiński, P.; Gusic, M.; Koller, A.; Pollak, A.; Gasperowicz, P.; Trubicka, J.; Ciara, E.; Iwanicka-Pronicka, K.; Rokicki, D.; Hanein, S.; Wortmann, S.B.; Sperl, W.; Rötig, A.; Prokisch, H.; Pronicka, E.; Płoski, R.; Barcia, G.; Mayr, J.A.

Am. J. Hum. Genet. 102, 460-467 (2018)

Szczerbik, E.; Iwanicka-Pronicka, K.; Syczewska, M.; Kalinowska, M.; Graff, K.

Gait & Posture. 65:376-377

Pronicka, E; Ropacka-Lesiak, M; Trubicka, J; Pajdowska, M; Linke, M; Ostergaard, E; Saunders, C; Horsch, S; van Karnebeek, C; Yaplito-Lee, J; Distelmaier, F; Õunap, K; Rahman, S; Castelle, M; Kelleher, J; Baris, S; Iwanicka-Pronicka, K; Steward, CG; Ciara, E; Wortmann, SB; Additional individual contributors, .

Lenz D; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Schlieben LD; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.; Shimura M; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.; Department of Metabolism, Chiba Children's Hospital, Centre for Medical Genetics, Chiba, Japan.; Bianzano A; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Smirnov D; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.; Kopajtich R; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.; Berutti R; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.; Adam R; Department of Paediatric Gastroenterology, Hepatology and Nutrition, University Children's Hospital, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.; Aldrian D; Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Baric I; Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia.; Baumann U; Department of Peadiatric Kidney, Liver, and Metabolic Diseases, Division for Paediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany.; Bozbulut NE; Department of Paediatric Gastroenterology, Gazi University Faculty of Medicine, Ankara, Turkey.; Brugger M; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Brunet T; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Bufler P; Department of Paediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Burnytė B; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Calvo PL; Regina Margherita Children's Hospital, Paediatic Gastroenterology Unit, Torino, Italy.; Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin, Ireland.; Dalgiç B; Department of Paediatric Gastroenterology, Gazi University Faculty of Medicine, Ankara, Turkey.; Das AM; Hannover Medical School, Clinic for Paediatric Kidney, Liver, and Metabolic Diseases, Hannover, Germany.; Dezsőfi A; First Department of Paediatrics, Semmelweis University, Budapest, Hungary.; Distelmaier F; Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.; Fichtner A; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Freisinger P; Department of Paediatrics, Hospital Reutlingen, Reutlingen, Germany.; Garbade SF; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Gaspar H; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Goujon L; CLAD Ouest CHU Hôpital Sud, CRMR Déficiences intellectuelles, Service de Génétique Médicale, Rennes, France.; Hadzic N; King's College Hospital, Paediatric Liver, GI & Nutrition Centre, London, United Kingdom.; Hartleif S; Eberhard Karls University Tuebingen, Paediatric Gastroenterology and Hepatology, Tuebingen, Germany.; Hegen B; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.; Hempel M; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.; University Medical Centre Hamburg-Eppendorf, Institute of Human Genetics, Hamburg.; Henning S; Department of Paediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Hoerning A; Department of Paediatrics, University Hospital Erlangen, Erlangen, Germany.; Houwen R; Paediatric Gastroenterology, UMC Utrecht, Utrecht, The Netherlands.; Hughes J; Children's Health Ireland, Temple Street Hospital, Dublin, Ireland.; Iorio R; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.; Iwanicka-Pronicka K; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Jankofsky M; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.; Junge N; Department of Peadiatric Kidney, Liver, and Metabolic Diseases, Division for Paediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany.; Kanavaki I; Department of Paediatric Gastroenterology, Hepatology and Nutrition, Third Department of Paediatrics, Attikon University General Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Kansu A; Department of Paediatric Gastroenterology, Ankara University, School of Medicine, Ankara, Turkey.; Kaspar S; Department of Paediatrics, University Hospital Erlangen, Erlangen, Germany.; Kathemann S; Department of Paediatrics II, Paediatric Gastroenterology, Hepatology and Liver Transplantation, University Hospital Essen, Essen, Germany.; Kelly D; Birmingham Children's Hospital NHS Trust, Liver Unit, Birmingham, UK.; Kirsaçlioğlu CT; Department of Paediatric Gastroenterology, Ankara University, School of Medicine, Ankara, Turkey.; Knoppke B; University Hospital Regensburg, KUNO University Children's Hospital, Regensburg, Germany.; Kohl M; Department of General Paediatrics, University Medical Centre Schleswig-Holstein, Kiel, Germany.; Kölbel H; Department of Paediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.; Kölker S; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Konstantopoulou V; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Krylova T; Research Centre for Medical Genetics, Moscow, Russian Federation.; Kuloğlu Z; Department of Paediatric Gastroenterology, Ankara University, School of Medicine, Ankara, Turkey.; Kuster A; Department of Neurometabolism, University Hospital of Nantes, Nantes, France.; Laass MW; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Lainka E; Department of Paediatrics II, Paediatric Gastroenterology, Hepatology and Liver Transplantation, University Hospital Essen, Essen, Germany.; Lurz E; Department of Paediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.; Mandel H; Department of Paediatrics, Rambam Medical Centre, Meyer Children's Hospital, Metabolic Unit, Haifa, Israel.; Mayerhanser K; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Mayr JA; University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria.; McKiernan P; University of Pittsburgh and Children's Hospital of Pittsburgh of UPMC, Pittsburgh Liver Research Centre, Pittsburgh, Pennsylvania, USA.; McClean P; Children's Liver Unit, Leeds Children's Hospital, Leeds, UK.; McLin V; Department of Paediatrics, Gynecology, and Obstetrics, Division of Paediatric Subspecialities, Swiss Paediatric Liver Centre, Paediatric Gastroenterology, Hepatology and Nutrition Unit, University of Geneva, Geneva, Switzerland.; Mention K; Jeanne de Flandres Hospital, Reference Centre for Inherited Metabolic Diseases, Lille, France.; Müller H; Department of Paediatrics, Division of Neonatology and Paediatric Intensive Care, University Hospital Marburg, Marburg, Germany.; Pasquier L; CLAD Ouest CHU Hôpital Sud, CRMR Déficiences intellectuelles, Service de Génétique Médicale, Rennes, France.; Pavlov M; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.; Pechatnikova N; Healthcare Department Morozov Children's City Clinical Hospital, Moscow City, Moscow.; Peters B; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Petković Ramadža D; Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia.; Piekutowska-Abramczuk D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Pilic D; Department of Paediatrics II, Paediatric Gastroenterology, Hepatology and Liver Transplantation, University Hospital Essen, Essen, Germany.; Rajwal S; Department of Paediatrics, Gynecology, and Obstetrics, Division of Paediatric Subspecialities, Swiss Paediatric Liver Centre, Paediatric Gastroenterology, Hepatology and Nutrition Unit, University of Geneva, Geneva, Switzerland.; Rock N; Department of Paediatrics, Gynecology, and Obstetrics, Division of Paediatric Subspecialities, Swiss Paediatric Liver Centre, Paediatric Gastroenterology, Hepatology and Nutrition Unit, University of Geneva, Geneva, Switzerland.; Roetig A; Laboratory of Genetics of Mitochondrial Diseases, Imagine Institute, University Paris Cité, INSERM UMR, Paris, France.; Santer R; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.; Schenk W; Department of Paediatrics, University Hospital Augsburg, Augsburg, Germany.; Semenova N; Research Centre for Medical Genetics, Moscow, Russian Federation.; Sokollik C; Department of Paediatrics, Division of Paediatric Gastroenterology, Hepatology and Nutrition, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Sturm E; Eberhard Karls University Tuebingen, Paediatric Gastroenterology and Hepatology, Tuebingen, Germany.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Tschiedel E; Department of Paediatrics I, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Urbonas V; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Urreizti R; Clinical Biochemistry Department, Hospital Sant Joan de Déu, IRSJD, Esplugues de Llobregat, Barcelona, Spain and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)- Instituto de Salud Carlos III, Spain.; Vermehren J; University Hospital Regensburg, KUNO University Children's Hospital, Regensburg, Germany.; Vockley J; University of Pittsburgh and Children's Hospital of Pittsburgh of UPMC, Pittsburgh Liver Research Centre, Pittsburgh, Pennsylvania, USA.; Vogel GF; Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria.; Wagner M; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; van der Woerd W; Paediatric Gastroenterology, UMC Utrecht, Utrecht, The Netherlands.; Wortmann SB; University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria.; Zakharova E; Research Centre for Medical Genetics, Moscow, Russian Federation.; Hoffmann GF; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Meitinger T; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Murayama K; Department of Metabolism, Chiba Children's Hospital, Centre for Medical Genetics, Chiba, Japan.; Staufner C; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Prokisch H; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.

Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 8302946 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-3350 (Electronic) Linking ISSN: 02709139 NLM ISO Abbreviation: Hepatology Subsets: MEDLINE

Guzek A; The Outpatient of Speech Therapy, The Children's Memorial Health Institute, Warsaw, Poland.; Iwanicka-Pronicka K; Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, Warsaw, Poland.; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Journal of Genetic Disorders & Genetic Reports.

Iwanicka-Pronicka, K.; Geremek, A.; Rostkowska, J.; Klonica, L.K.; Pieluc, M.; Zgoda, M.

International Journal of Pediatric Otorhinolaryngology. 75:56-56

Pronicka E; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.; Ropacka-Lesiak M; Department of Perinatology and Gynaecology, University of Medical Sciences, Poznań, Poland.; Trubicka J; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Pajdowska M; Department of Biochemistry and Experimental Medicine, Children's Memorial Health Institute, Warsaw, Poland.; Linke M; Department of Neonatology, DRK Children's Hospital Siegen, Siegen, Germany.; Ostergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100, Copenhagen, Denmark.; Saunders C; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, 64108, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, 64108, USA.; Horsch S; Department of Neonatology, Helios Klinikum, Berlin-Buch, Germany.; van Karnebeek C; Division of Biochemical Diseases, Department of Pediatrics, B.C. Children's Hospital, Treatable Intellectual Disability Endeavour, Vancouver, BC, V6H 3N4, Canada.; Yaplito-Lee J; Department of Metabolic Medicine, Murdoch Childrens Research Institute, The Royal Children's Hospital Melbourne, Parkville, VIC, 3052, Australia.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Moorenstr. 5, 40225, Duesseldorf, Germany.; Õunap K; Department of Genetics, United Laboratories, Tartu University Hospital, 51014, Tartu, Estonia.; Department of Pediatrics, Institute of Clinical Medicine, University of Tartu, 51014, Tartu, Estonia.; Rahman S; UCL Institute of Child Health, London, WC1N 1EH, UK.; Castelle M; Department of Hemato-Immunology, Hospital Necker-Enfants malades, Paris, France.; Kelleher J; Department of Neonatology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.; Baris S; Division of Pediatric Allergy/Immunology, Marmara University, Istanbul, Turkey.; Iwanicka-Pronicka K; Department of Audiology and Phoniatrics, Children's Memorial Health Institute, Warsaw, Poland.; Steward CG; School of Cellular & Molecular Medicine, Medical Sciences Building, University of Bristol, Bristol, UK.; Department of Haematology, Oncology and BMT, Royal Hospital for Children, Bristol, UK.; Ciara E; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Müllner-Hauptstraße 48, 5020, Salzburg, Austria. s.wortmann-hagemann@salk.at.; Institute of Human Genetics, Technical University Munich, Munich, Germany. s.wortmann-hagemann@salk.at.; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany. s.wortmann-hagemann@salk.at.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Szczerbik E; Kinesiology Lab, The Children's Memorial Health Institute, Warsaw, Poland.; Iwanicka-Pronicka K; Department of Audiology and Phoniatric, The Children's Memorial Health Institute, Warsaw, Poland.; Syczewska M; Kinesiology Lab, The Children's Memorial Health Institute, Warsaw, Poland.; Kalinowska M; Kinesiology Lab, The Children's Memorial Health Institute, Warsaw, Poland.; Graff K; Department of Rehabilitation, The Children's Memorial Health Institute, Warsaw, Poland.; Department of Rehabilitation, Józef Piłsudski Academy of Physical Education, Warsaw, Poland.

Publisher: Sciendo Country of Publication: Poland NLM ID: 101194794 Publication Model: Print Cited Medium: Internet ISSN: 2450-6303 (Electronic) Linking ISSN: 1509409X NLM ISO Abbreviation: Acta Bioeng Biomech Subsets: MEDLINE