Elzbieta Szczepanik - Instytut Matki i Dziecka

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论文共 106 篇作者统计合作学者相似作者

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Biallelic Variants in PIGN Cause Fryns Syndrome, Multiple Congenital Anomalies-Hypotonia-seizures Syndrome, and Neurologic Phenotypes: A Genotype-Phenotype Correlation Study

Genetics in medicine（2023）

引用3浏览0WOS引用

An attempt to identify gene variants responsible for neurological symptoms in children with adverse effects following immunization (AEFI)

Agnieszka Charzewska,Dorota Hoffman-Zacharska,Iwona Terczynska,Tomasz Mazurczak,Elzbieta Szczepanik, Alicja Karney,Tomasz Gambin,Karolina Kanabus,Renata Tataj,Jerzy Bal

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

引用0浏览0引用

PIGN Encephalopathy: Characterizing the Epileptology

Allan Bayat,Guillem Valles-Ibanez,Manuela Pendziwiat,Alexej Knaus,Kerstin Alt,Elisa Biamino,Annette Bley,Sophie Calvert,Patrick Carney,Alfonso Caro-Llopis,Berten Ceulemans,Janice Cousin,Suzanne Davis,Vincent Portes,Patrick Edery,Eleina England,Carlos Ferreira,Jeremy Freeman,Blanca Gener,Magali Gorce,Delphine Heron,Michael S. Hildebrand,Aleksandra Jezela-Stanek,Pierre-Simon Jouk,Boris Keren,Katja Kloth,Gerhard Kluger,Marius Kuhn,Johannes R. Lemke,Hong Li,Francisco Martinez,Caroline Maxton,Heather C. Mefford,Giuseppe Merla,Hanna Mierzewska,Alison Muir,Sandra Monfort,Joost Nicolai,Jennifer Norman,Gina O'Grady,Barbara Oleksy,Carmen Orellana,Laura Elena Orec,Charlotte Peinhardt,Ewa Pronicka,Monica Rosello,Fernando Santos-Simarro,Eva Maria Christina Schwaibold,Alexander P. A. Stegmann,Constance T. Stumpel,Elzbieta Szczepanik,Iwona Terczynska,Julien Thevenon,Andreas Tzschach,Patrick Van Bogaert,Roberta Vittorini,Sonja Walsh,Sarah Weckhuysen,Barbara Weissman,Lynne Wolfe,Alexandre Reymond,Pasquelena De Nittis,Annapurna Poduri,Heather Olson,Pasquale Striano,Gaetan Lesca,Ingrid E. Scheffer,Rikke S. Moller,Lynette G. Sadleir

Epilepsia（2022）

引用4浏览0WOS引用

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

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 Jedlinska-Pijanowska,Marta Jurek, Dagmara Karolewska, Adela Kazmierczak, Teresa Kleist,Iwona Kochanowska,Malgorzata Krajewska-Walasek,Katarzyna Kufel,Anna Kutkowska-Kazmierczak,Agata Lipiec,Dorota Maksym-Gasiorek,Anna Materna-Kiryluk, Hanna Mazurkiewicz,Michal 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

Genes（2021）

引用6浏览0WOS引用

Aicardi-Goutieres Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts

Barbara Oleksy,Hanna Mierzewska,Jolanta Tryfon,Maria Wypchlo,Krystyna Wasilewska,Zofia Zalewska-Miszkurka,Rafal Ploski,Malgorzata Rydzanicz,Elzbieta Szczepanik

MOLECULAR SYNDROMOLOGY (2021)

引用2浏览0WOS引用

LOF or GOF - to which extend functional studies may be helpful in understanding SCN1A mutations

Dorota Hoffman-Zacharska,Ewa Nurowska,Bartlomiej Szulczyk,Marta Jurek,Michal Milewski,Paulina Gorka-Skoczylas,Agata Lipiec,Elzbieta Szczepanik

EPILEPSIA（2021）

引用0浏览0引用

The Neuropathological Findings of Developmental and Epileptic Encephalopathy-43 (DEE43) and Delineation of a the Molecular Spectrum of Novel Case

Hanna Mierzewska,Milena Laure-Kamionowska,Aleksandra Jezela-Stanek,Malgorzata Rydzanicz,Rafal Ploski,Elzbieta Szczepanik

Seizure（2021）

引用1浏览0WOS引用

Comprehensive Electrophysiological Analysis Of Scn1a Arg1596cys Mutation In A Family With Evolving Epilepsy Phenotypes

D. Hoffman-Zacharska, E. Nurowska,G. Witkowski,M. Jurek,A. Charzewska,B. Szulczyk,M. Milewski, M. Dawidziuk,E. Szczepanik

EUROPEAN JOURNAL OF NEUROLOGY（2021）

引用2浏览0引用

Evidence of the milder phenotypic spectrum of c.1582G>APIGT variant: Delineation based on seven novel Polish patients

Aleksandra Jezela-Stanek,Elzbieta Szczepanik,Hanna Mierzewska,Malgorzata Rydzanicz,Karolina Rutkowska,Alexej Knaus,Robert Smigiel,Iwona Stepniak, Michal G. Markiewicz,Snir Boniel,Peter Krawitz,Rafal Ploski

CLINICAL GENETICS（2020）

引用7浏览0WOS引用

Intrathecal Infusion of Autologous Adipose-Derived Regenerative Cells in Autoimmune Refractory Epilepsy: Evaluation of Safety and Efficacy

Elzbieta Szczepanik,Hanna Mierzewska,Dorota Antczak-Marach,Anna Figiel-Dabrowska,Iwona Terczynska,Jolanta Tryfon,Natalia Krzesniak,Bartlomiej Henryk Noszczyk,Ewa Sawicka,Krystyna Domanska-Janik,Anna Sarnowska

STEM CELLS INTERNATIONAL（2020）

引用15浏览0WOS引用

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