부산대학교 도서관

Chałupczyńska B; Department of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.; Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.; Halat-Wolska P; Department of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.; Pollak A; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.; Stawiński P; Department of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.; Jurkiewicz D; Department of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.; Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.; Gawlik M; Department of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.; Pietrasik J; Department of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.; Cieślikowska A; Department of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.; Wicher D; Department of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.; Ulatowska A; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Member of the European Reference Network EpiCARE, 04-730 Warsaw, Poland.; Jedlińska D; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Member of the European Reference Network EpiCARE, 04-730 Warsaw, Poland.; Borkowska J; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Member of the European Reference Network EpiCARE, 04-730 Warsaw, Poland.; Chmielewski D; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Member of the European Reference Network EpiCARE, 04-730 Warsaw, Poland.; Dunin-Wąsowicz D; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Member of the European Reference Network EpiCARE, 04-730 Warsaw, Poland.; Kotulska-Jóźwiak K; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Member of the European Reference Network EpiCARE, 04-730 Warsaw, Poland.; Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.; Madej-Pilarczyk A; Department of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 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

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

Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier L; Crushell, Ellen; Dalgiç, Buket; Das, Anibh M; Dezsőfi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaçlioğlu, Ceyda T; Knoppke, Birgit; Kohl, Martina; Kölbel, Heike; Kölker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloğlu, Zarife; Kuster, Alice; Laass, Martin W; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A; McKiernan, Patrick; McClean, Patricia; Mclin, Valérie Anne; Mention, Karine; Müller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petković Ramadža, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanja; Rock, Nathalie; Roetig, Agnès; Santer, René; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B; Zakharova, Ekaterina; Hoffmann, Georg F; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger

Hepatology
Hepatology (Baltimore, Md.)
United States
Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan Eksi; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier Luigi; Crushell, Ellen; Dalgıç, Buket; Das, Anibh M; ... (2024). Genetic landscape of pediatric acute liver failure of indeterminate origin. Hepatology, 79(5), pp. 1075-1087. Wiley 10.1097/HEP.0000000000000684
Hepatology 79, 1075-1087 (2023)

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

Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E. ; Schlieben, Lea D. ; Prokisch, Holger ; Feichtinger, René G. ; Mayr, Johannes A. ; Brennenstuhl, Heiko ; Schröter, Julian ; Pechlaner, Agnes ; Alkuraya, Fowzan S. ; Baker, Joshua J. ; Barcia, Giulia ; Baric, Ivo ; Braverman, Nancy ; Burnyte, Birute ; Christodoulou, John ; Ciara, Elzbieta ; Coman, David ; Das, Anibh M. ; Darin, Niklas ; Della Marina, Adela ; Distelmaier, Felix ; Eklund, Erik A. ; Ersoy, Melike ; Fang, Weiyan ; Gaignard, Pauline ; Ganetzky, Rebecca D. ; Gonzales, Emmanuel ; Howard, Caoimhe ; Hughes, Joanne ; Konstantopoulou, Vassiliki ; Kose, Melis ; Kerr, Marina ; Khan, Aneal ; Lenz, Dominic ; McFarland, Robert ; Margolis, Merav Gil ; Morrison, Kevin ; Müller, Thomas ; Murayama, Kei ; Nicastro, Emanuele ; Pennisi, Alessandra ; Peters, Heidi ; Piekutowska-Abramczuk, Dorota ; Rötig, Agnès ; Santer, René ; Scaglia, Fernando ; Schiff, Manuel ; Shagrani, Mohmmad ; Sharrard, Mark ; Soler-Alfonso, Claudia ; Staufner, Christian ; Storey, Imogen ; Stormon, Michael ; Taylor, Robert W. ; Thorburn, David R. ; Teles, Elisa Leao ; Wang, Jian-She ; Weghuber, Daniel ; Wortmann, Saskia

In Genetics in Medicine June 2023 25(6)

Krawiec M; Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Zabrze, Poland.; Śliwka J; Department of Cardiac, Vascular and Endovascular Surgery and Transplantology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Silesian Center for Heart Diseases in Zabrze, Zabrze, Poland.; Pawlak S; Department of Cardiac, Vascular and Endovascular Surgery and Transplantology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Silesian Center for Heart Diseases in Zabrze, Zabrze, Poland.; Kapałka M; Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Zabrze, Poland.; Hamerling P; Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Zabrze, Poland.; Grzywacz W; Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Zabrze, Poland.; Hawel W; Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Zabrze, Poland.; Skórska G; Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, Katowice, Poland.; Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Hrapkowicz T; Department of Cardiac, Vascular and Endovascular Surgery and Transplantology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Silesian Center for Heart Diseases in Zabrze, Zabrze, Poland.

Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

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

Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Jędrzejowska M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Jurkiewicz D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Halat-Wolska P; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Młynek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Płoski R; Department of Medical Genetics, Medical University of Warsaw.; Madej-Pilarczyk A; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. a.madej-pilarczyk@ipczd.pl.

Publisher: Via Medica Country of Publication: Poland NLM ID: 0101265 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0028-3843 (Print) Linking ISSN: 00283843 NLM ISO Abbreviation: Neurol Neurochir Pol Subsets: MEDLINE; In Process

Vicente A. Yépez; Mirjana Gusic; Robert Kopajtich; Christian Mertes; Nicholas H. Smith; Charlotte L. Alston; Rui Ban; Skadi Beblo; Riccardo Berutti; Holger Blessing; Elżbieta Ciara; Felix Distelmaier; Peter Freisinger; Johannes Häberle; Susan J. Hayflick; Maja Hempel; Yulia S. Itkis; Yoshihito Kishita; Thomas Klopstock; Tatiana D. Krylova; Costanza Lamperti; Dominic Lenz; Christine Makowski; Signe Mosegaard; Michaela F. Müller; Gerard Muñoz-Pujol; Agnieszka Nadel; Akira Ohtake; Yasushi Okazaki; Elena Procopio; Thomas Schwarzmayr; Joél Smet; Christian Staufner; Sarah L. Stenton; Tim M. Strom; Caterina Terrile; Frederic Tort; Rudy Van Coster; Arnaud Vanlander; Matias Wagner; Manting Xu; Fang Fang; Daniele Ghezzi; Johannes A. Mayr; Dorota Piekutowska-Abramczuk; Antonia Ribes; Agnès Rötig; Robert W. Taylor; Saskia B. Wortmann; Kei Murayama; Thomas Meitinger; Julien Gagneur; Holger Prokisch

Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)

Jankowska, Irena ; Czubkowski, Piotr ; Rokicki, Dariusz ; Lipiński, Patryk ; Piekutowska-Abramczuk, Dorota ; Ciara, Elżbieta ; Płoski, Rafał ; Kaliciński, Piotr ; Szymczak, Marek ; Pawłowska, Joanna ; Socha, Piotr

In Clinics and Research in Hepatology and Gastroenterology January 2021 45(1)

Piekutowska-Abramczuk, Dorota ; Kaliszewska, Magdalena ; Sułek, Anna ; Jurkowska, Natalia ; Ołtarzewski, Mariusz ; Jabłońska, Ewa ; Trubicka, Joanna ; Głowacka, Aleksandra ; Ciara, Elżbieta ; Kowalski, Paweł ; Langiewicz-Wojciechowska, Karolina ; Tesarova, Marketa ; Zeman, Jiri ; Kierdaszuk, Biruta ; Kuczyński, Dariusz ; Chmielewski, Dariusz ; Szymańska, Edyta ; Bakuła, Agnieszka ; Łusakowska, Anna ; Lipowska, Marta ; Brodacki, Bogdan ; Pera, Joanna ; Dorobek, Małgorzata ; Rydzanicz, Małgorzata ; Płoski, Rafał ; Chrzanowska, Krystyna Halina ; Bartnik, Ewa ; Placha, Grzegorz ; Kamińska, Anna ; Kostera-Pruszczyk, Anna ; Krajewska-Walasek, Małgorzata ; Tońska, Katarzyna ; Pronicka, Ewa

In Mitochondrion July 2019 47:179-187

Fałek O; Department of Intensive Care and Congenital Malformations of Newborns and Infants, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.; Wesół-Kucharska D; Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Starostecka E; Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.; Rokicki D; Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Fortecka-Piestrzeniewicz K; Department of Intensive Care and Congenital Malformations of Newborns and Infants, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.; Kępczyński Ł; Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.; Piekutowska-Abramczuk D; Department of Medical Genetics, Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Ciara E; Department of Medical Genetics, Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Maroszyńska I; Department of Intensive Care and Congenital Malformations of Newborns and Infants, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, 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

Rusecka JM; Faculty of Biology, Institute of Genetics and Biotechnology, University of Warsaw, Pawińskiego 5a, Warsaw, 02-106, Poland.; Maria Skłodowska-Curie Medical Academy, Solidarności 12, Warsaw, 03-411, Poland.; MedGen Medical Center, Wiktorii Wiedeńskiej 9a, Warsaw, 02-954, Poland.; Kierdaszuk B; Department of Neurology, Medical University of Warsaw, ERN EURO-NMD, Banacha 1a, Warsaw, 02-097, Poland.; Stępniak I; MedGen Medical Center, Wiktorii Wiedeńskiej 9a, Warsaw, 02-954, Poland.; Institute of Psychiatry and Neurology, Jana III Sobieskiego 9, Warsaw, Poland.; Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Pawińskiego 3C, Warsaw, 02-106, Poland.; Stawiński P; Department of Medical Genetics, Medical University of Warsaw, Pawińskiego 3C, Warsaw, 02-106, Poland.; Gambin T; Institute of Computer Science, Warsaw University of Technology, Nowowiejska 15/19, Warsaw, 00-665, Poland.; Loska D; MedGen Medical Center, Wiktorii Wiedeńskiej 9a, Warsaw, 02-954, Poland.; Kacprzak MM; MedGen Medical Center, Wiktorii Wiedeńskiej 9a, Warsaw, 02-954, Poland.; Kaliszewska M; Faculty of Biology, Institute of Genetics and Biotechnology, University of Warsaw, Pawińskiego 5a, Warsaw, 02-106, Poland.; Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Dzieci Polskich 20, Warsaw, 04-730, Poland.; Kamińska AM; Department of Neurology, Medical University of Warsaw, ERN EURO-NMD, Banacha 1a, Warsaw, 02-097, Poland.; Pronicka E; Department of Medical Genetics, The Children's Memorial Health Institute, Dzieci Polskich 20, Warsaw, 04-730, Poland.; Bartnik E; Faculty of Biology, Institute of Genetics and Biotechnology, University of Warsaw, Pawińskiego 5a, Warsaw, 02-106, Poland.; Kostera-Pruszczyk A; Department of Neurology, Medical University of Warsaw, ERN EURO-NMD, Banacha 1a, Warsaw, 02-097, Poland.; Płoski R; Department of Medical Genetics, Medical University of Warsaw, Pawińskiego 3C, Warsaw, 02-106, Poland.; Sobczyńska-Tomaszewska A; MedGen Medical Center, Wiktorii Wiedeńskiej 9a, Warsaw, 02-954, Poland.; Tońska K; Faculty of Biology, Institute of Genetics and Biotechnology, University of Warsaw, Pawińskiego 5a, Warsaw, 02-106, Poland. k.tonska@uw.edu.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

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