المؤلفون: Magdalena Badura-Stronka, Katarzyna Wołyńska, Anna Winczewska-Wiktor, Justyna Marcinkowska, Dagmara Karolewska, Danuta Tomkowiak-Kędzia, Michał Piechota, Marta Przyborska, Natalia Kochalska, Barbara Steinborn

المصدر: Frontiers in Neurology, Vol 14 (2024)

مصطلحات موضوعية: next-generation sequencing, ILAE, epilepsy, genetics, yield, panels, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1316933/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/b749998778ae45ea8e53617a95e6a662

المؤلفون: Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Magdalena Badura-Stronka, Jerome Juengling, Kerstin Huhn, Saskia Biskup, Bartłomiej Bancerz, Jarosław Walkowiak

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: Takenouchi-Kosaki syndrome, Cdc42, c.191A>G variant, antibody deficiency, macrothrombocytopenia, neurodevelopmental delay, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1108852/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/d06ce5f2e2694610a483098cea3eee08

المؤلفون: Dominika Kaps-Kopiec, Andrzej Pławski, Magdalena Badura-Stronka, Mikołaj Teisseyre, Maciej Dądalski, Joanna Cielecka-Kuszyk, Joanna Pawłowska

المصدر: Pediatria Polska, Vol 96, Iss 1, Pp 71-76 (2021)

مصطلحات موضوعية: cancer, polyps, telangiectasia, organ arteriovenous malformations., Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.termedia.pl/Juvenile-polyposis-syndrome-and-hereditary-haemorrhagic-telangiectasia-caused-by-the-SMAD4-gene-mutation-in-a-paediatric-patient-a-case-report-and-a-review-of-the-literature,127,43675,1,1.html; https://doaj.org/toc/0031-3939; https://doaj.org/toc/2300-8660

URL الوصول: https://doaj.org/article/7cde975bf83140edbd818c88296bfee8

المؤلفون: Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Mowat-Wilson syndrome, ZEB2, Growth charts, Weight, Length, Height, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01418-4; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/80124a98602c4794863224c650289c08

المؤلفون: Magdalena Badura‐Stronka, Robert Śmigiel, Karolina Rutkowska, Krystyna Szymańska, Adam Sebastian Hirschfeld, Michał Monkiewicz, Joanna Kosińska, Ewelina Wolańska, Małgorzata Rydzanicz, Anna Latos‐Bieleńska, Rafał Płoski

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/c9fa25de2e224657992f3ccefbe46aad

المؤلفون: Anna Pietrzak, Magdalena Badura-Stronka, Tiia Kangas-Kontio, Paulina Felczak, Wojciech Kozubski, Anna Latos-Bielenska, Teresa Wierzba-Bobrowicz, Jolanta Florczak-Wyspianska

المصدر: Folia Neuropathologica, Vol 57, Iss 3, Pp 285-294 (2019)

مصطلحات موضوعية: atp13a2, park9, kufor-rakeb syndrome, parkinson’s disease, ataxia, Medicine

وصف الملف: electronic resource

Relation: https://www.termedia.pl/Clinical-and-ultrastructural-findings-in-an-ataxic-variant-of-Kufor-Rakeb-syndrome,20,37906,1,1.html; https://doaj.org/toc/1641-4640; https://doaj.org/toc/1509-572X

URL الوصول: https://doaj.org/article/e2739826ddc34ac28dd97795fcab73a3

المؤلفون: Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: facial dysostoses, mandibulofacial dysostoses, acrofacial dysostoses, pharyngeal arch, rare diseases, craniofacial development, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2020.580477/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/9f39505d44384785b30bd0eea60b55f6

المؤلفون: Anna Winczewska-Wiktor, Adam Sebastian Hirschfeld, Magdalena Badura-Stronka, Paulina Komasińska-Piotrowska, Barbara Steinborn

المصدر: Journal of Clinical Medicine; Volume 11; Issue 3; Pages: 606

مصطلحات موضوعية: ketogenic, diet, epilepsy, genetic, child

وصف الملف: application/pdf

Relation: Clinical Neurology; https://dx.doi.org/10.3390/jcm11030606

الاتاحة: https://doi.org/10.3390/jcm11030606

المؤلفون: Anna Winczewska-Wiktor, Adam Sebastian Hirschfeld, Magdalena Badura-Stronka, Irena Wojsyk-Banaszak, Paulina Sobkowiak, Alicja Bartkowska-Śniatkowska, Valeriia Babak, Barbara Steinborn

المصدر: International Journal of Environmental Research and Public Health; Volume 19; Issue 2; Pages: 775

مصطلحات موضوعية: CLIFAHDD, pyridostigmine, NALCN, apnea

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijerph19020775

الاتاحة: https://doi.org/10.3390/ijerph19020775

المؤلفون: Mateusz Dawidziuk, Tomasz Gambin, Ewelina Bukowska-Olech, Dorota Antczak-Marach, Magdalena Badura-Stronka, Piotr Buda, Edyta Budzynska, Jennifer Castaneda, Tatiana Chilarska, Elzbieta Czyzyk, Anna Eckersdorf-Mastalerz, Jolanta Fijak-Moskal, Dorota Gieruszczak-Bialek, Ewelina Glodek-Brzozowska, Alicja Goszczanska-Ciuchta, Malgorzata Grzeszykowska-Podymniak, Barbara Gurda, Anna Jakubiuk-Tomaszuk, Ewa Jamroz, Magdalena Janeczko, Dominika Jedlińska-Pijanowska, Marta Jurek, Dagmara Karolewska, Adela Kazmierczak, Teresa Kleist, Iwona Kochanowska, Malgorzata Krajewska-Walasek, Katarzyna Kufel, Anna Kutkowska-Kaźmierczak, Agata Lipiec, Dorota Maksym-Gasiorek, Anna Materna-Kiryluk, Hanna Mazurkiewicz, Michał Milewski, Tatsiana Pavina-Guglas, Aleksandra Pietrzyk, Renata Posmyk, Antoni Pyrkosz, Mariola Rudzka-Dybala, Ryszard Slezak, Marzena Wisniewska, Zofia Zalewska-Miszkurka, Elzbieta Szczepanik, Ewa Obersztyn, Monika Bekiesinska-Figatowska, Pawel Gawlinski, Wojciech Wiszniewski

المصدر: Genes; Volume 12; Issue 12; Pages: 2014

مصطلحات موضوعية: molecular genetics, neurology, high-throughput nucleotide sequencing, medical genetics, human genetics

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12122014

الاتاحة: https://doi.org/10.3390/genes12122014

المؤلفون: Magdalena Badura-Stronka, Anna Winczewska-Wiktor, Anna Pietrzak, Adam Sebastian Hirschfeld, Tomasz Zemojtel, Katarzyna Wołyńska, Katarzyna Bednarek-Rajewska, Monika Seget-Dubaniewicz, Agnieszka Matheisel, Anna Latos-Bielenska, Barbara Steinborn

المصدر: Genes; Volume 12; Issue 7; Pages: 956

مصطلحات موضوعية: CLN8, LINCL, lipofuscinosis, mutation, neuronal, ceroid

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12070956

الاتاحة: https://doi.org/10.3390/genes12070956

المؤلفون: Magdalena Badura-Stronka, Katarzyna Wołyńska, Anna Winczewska-Wiktor, Justyna Marcinkowska, Dagmara Karolewska, Danuta Tomkowiak-Kędzia, Michał Piechota, Marta Przyborska, Natalia Kochalska, Barbara Steinborn

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, next-generation sequencing, ILAE, epilepsy, genetics, yield, panels

Relation: https://figshare.com/articles/dataset/Table_2_Validation_of_targeted_next-generation_sequencing_panels_in_a_cohort_of_polish_patients_with_epilepsy_assessing_variable_performance_across_clinical_endophenotypes_and_uncovering_novel_genetic_variants_DOCX/24987693

الاتاحة: https://doi.org/10.3389/fneur.2023.1316933.s002
https://figshare.com/articles/dataset/Table_2_Validation_of_targeted_next-generation_sequencing_panels_in_a_cohort_of_polish_patients_with_epilepsy_assessing_variable_performance_across_clinical_endophenotypes_and_uncovering_novel_genetic_variants_DOCX/24987693

المؤلفون: Aleksandra Szczawińska-Popłonyk, Katarzyna Bernat-Sitarz, Eyal Schwartzmann, Michał Piechota, Magdalena Badura-Stronka

المصدر: Allergologia et Immunopathologia. 50:1-9

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Immunology, Immunology and Allergy, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::80814bf136e29f2f6cdf064e033c9510
https://doi.org/10.15586/aei.v50i4.510

المؤلفون: Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abballa, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

المساهمون: Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abballa, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, , Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

مصطلحات موضوعية: Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/29300384; info:eu-repo/semantics/altIdentifier/wos/WOS:000445531800009; volume:20; issue:9; firstpage:965; lastpage:975; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11585/645446; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85050603332; https://www.nature.com/articles/gim2017221

الاتاحة: http://hdl.handle.net/11585/645446
https://doi.org/10.1038/gim.2017.221
https://www.nature.com/articles/gim2017221

المؤلفون: Meena Balasubramanian, Sunwoo Lee, Eguzkine Ochoa, Magdalena Badura-Stronka, Deirdre Donnelly, Damien Lederer, Sally Lynch, Alice Gardham, Jenny Morton, Helen Stewart, France Docquier, Fay Rodger, Jose Martin, Ana Toribio, Eamonn Maher

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cbc420a00983464ec6688ae27eca5deb
https://doi.org/10.21203/rs.3.rs-2653174/v1

المؤلفون: Adam Ustaszewski, Joanna Janowska-Głowacka, Katarzyna Wołyńska, Magdalena Badura-Stronka, Anna Pietrzak

المصدر: Archives of Medical Science : AMS

مصطلحات موضوعية: System development, lymphatic malformation, Genetic syndromes, business.industry, capillary malformation, Vascular malformation, arteriovenous malformation, Arteriovenous malformation, General Medicine, medicine.disease, Bioinformatics, Phenotype, vascular malformation, arterial malformation, medicine, business, Venous malformation, venous malformation, State of the Art Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f064792e2c006b6227a91e1fa5eacbb0
https://doi.org/10.5114/aoms.2020.93260

المؤلفون: null Magdalena Badura-Stronka

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::96fa9d68090637a55f6e6091eb4230f1
https://doi.org/10.1111/cge.14203/v1/review2

المؤلفون: Magdalena Badura-Stronka, Łukasz Kuszel, Agnieszka Wencel-Warot, Kamila Cudnoch, Katarzyna Wołyńska, Karolina Rutkowska, Barbara Steinborn, Rafał Płoski

المصدر: Epilepsy Research. 190:107101

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::59a5d53f97b743e4c61b569315d829e0
https://doi.org/10.1016/j.eplepsyres.2023.107101

المؤلفون: Wojciech Kozubski, Magdalena Badura-Stronka, Barbara Steinborn, Anna Winczewska-Wiktor, Anna Jakubiuk-Tomaszuk, Sebastian Hirschfeld Adam, Edyta Budzynska, Anita Piontek

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, medicine, business, Cerebrotendinous Xanthomatosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50a698a78154e729316ee64f71540b30
https://doi.org/10.1111/cge.14079/v3/response1

المؤلفون: Magdalena Badura-Stronka, Wojciech Kozubski, Anna Winczewska-Wiktor, Sebastian Hirschfeld Adam, Anita Piontek, Edyta Budzynska, Anna Jakubiuk-Tomaszuk, Barbara Steinborn

المصدر: Clinical geneticsREFERENCES. 101(2)

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Genotype, DNA Mutational Analysis, Cerebrotendinous Xanthomatosis, Young Adult, Chronic diarrhea, Cataracts, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), Alleles, Genetic Association Studies, Retrospective review, business.industry, Infant, Newborn, Xanthomatosis, Cerebrotendinous, medicine.disease, Magnetic Resonance Imaging, Progressive ataxia, Phenotype, Inborn error of metabolism, Cohort, Mutation, Cholestanetriol 26-Monooxygenase, Female, Poland, Symptom Assessment, business, Neurological impairment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3762dc707b7b849c92d10d4589e113b2
https://pubmed.ncbi.nlm.nih.gov/34689324