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Distinct characteristics of multisystem inflammatory syndrome in children in Poland
Author / Creator:Ludwikowska, Kamila Maria ; Okarska-Napierała, Magdalena ; Dudek, Natalia ; Tracewski, Paweł ; Kusa, Jacek ; Piwoński, Krzysztof Piotr ; Afelt, Aneta ; Cysewski, Dominik ; Biela, Mateusz ; Werner, Bożena ; Jackowska, Teresa ; Suski-Grabowski, Catherine ; Kursa, Miron Bartosz ; Kuchar, Ernest ; Szenborn, Leszek
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-12, Vol.11 (1), p.23562-23562, Article 23562
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Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit
Author / Creator:Śmigiel, Robert ; Biela, Mateusz ; Szmyd, Krzysztof ; Błoch, Michal ; Szmida, Elżbieta ; Skiba, Paweł ; Walczak, Anna ; Gasperowicz, Piotr ; Kosińska, Joanna ; Rydzanicz, Małgorzata ; Stawiński, Piotr ; Biernacka, Anna ; Zielińska, Marzena ; Gołębiowski, Waldemar ; Jalowska, Agnieszka ; Ohia, Grażyna ; Głowska, Bożena ; Walas, Wojciech ; Królak-Olejnik, Barbara ; Krajewski, Paweł ; Sykut-Cegielska, Jolanta ; Sąsiadek, Maria M. ; Płoski, Rafał
Publisher:Basel: MDPI AG
Journal title:Journal of clinical medicine, 2020-07, Vol.9 (7), p.2220
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Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome
Author / Creator:Smigiel, Robert ; Biernacka, Anna ; Biela, Mateusz ; Murcia-Pienkowski, Victor ; Szmida, Elzbieta ; Gasperowicz, Piotr ; Kosinska, Joanna ; Kostrzewa, Grazyna ; Koppolu, Agnieszka Anna ; Walczak, Anna ; Wawrzuta, Dominik ; Rydzanicz, Malgorzata ; Sasiadek, Malgorzata ; Ploski, Rafal
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2018-04, Vol.63 (4), p.517-520
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Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review
Author / Creator:Biela, Mateusz ; Rydzanicz, Malgorzata ; Szymanska, Krystyna ; Pieniawska‐Smiech, Karolina ; Lewandowicz‐Uszynska, Aleksandra ; Chruszcz, Joanna ; Benben, Lucyna ; Kuzior‐Plawiak, Malgorzata ; Szyld, Pawel ; Jakubiak, Aleksandra ; Szenborn, Leszek ; Ploski, Rafal ; Smigiel, Robert
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2021-09, Vol.9 (9), p.e1772-n/a
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COVID-19 mRNA BNT162b2 vaccine immunogenicity among children with a history of paediatric multisystem inflammatory syndrome temporally associated with COVID-19 (PIMS-TS)
Author / Creator:Ludwikowska, Kamila M ; Popiel, Aneta ; Matkowska-Kocjan, Agnieszka ; Biela, Mateusz ; Wójcik, Marta ; Szenborn, Filip ; Wielgos, Katarzyna ; Pielka-Markiewicz, Ewa ; Zaryczański, Janusz ; Kursa, Miron B ; Szenborn, Leszek
Publisher:Netherlands: Elsevier Ltd
Journal title:Vaccine, 2023-05, Vol.41 (21), p.3317-3327
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COVID-19 mRNA BNT162b2 vaccine safety and B-cell and T-cell reactogenicity among children with a history of paediatric multisystem inflammatory syndrome temporally associated with COVID-19 (PIMS-TS) -...
Author / Creator:Ludwikowska, Kamila M ; Popiel, Aneta ; Matkowska-Kocjan, Agnieszka ; Olbromski, Mateusz J ; Biela, Mateusz ; Wójcik, Marta ; Szenborn, Filip ; Wielgos, Katarzyna ; Pielka-Markiewicz, Ewa ; Zaryczański, Janusz ; Kursa, Miron B ; Szenborn, Leszek
Publisher:Netherlands: Elsevier Ltd
Journal title:Vaccine, 2023-03, Vol.41 (13), p.2289-2299
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Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation
Author / Creator:Biela, Mateusz ; Rydzanicz, Malgorzata ; Jankowska, Agnieszka ; Szlagatys-Sidorkiewicz, Agnieszka ; Rozensztrauch, Anna ; Płoski, Rafał ; Smigiel, Robert
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-01, Vol.13 (2), p.168
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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
Author / Creator:Stembalska, Agnieszka ; Rydzanicz, Małgorzata ; Klaniewska, Magdalena ; Dudarewicz, Lech ; Pollak, Agnieszka ; Biela, Mateusz ; Stawinski, Piotr ; Ploski, Rafal ; Smigiel, Robert
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-07, Vol.13 (8), p.1339
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ArticlesPeer ReviewedFull Text
Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
Author / Creator:Stembalska, Agnieszka ; Rydzanicz, Małgorzata ; Pollak, Agnieszka ; Kostrzewa, Grazyna ; Stawinski, Piotr ; Biela, Mateusz ; Ploski, Rafal ; Smigiel, Robert
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-07, Vol.12 (7), p.1078
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ArticlesPeer ReviewedFull Text
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in IDYNC2H1/I Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
Author / Creator:Stembalska, Agnieszka ; Rydzanicz, Małgorzata ; Klaniewska, Magdalena ; Dudarewicz, Lech ; Pollak, Agnieszka ; Biela, Mateusz ; Stawinski, Piotr ; Ploski, Rafal ; Smigiel, Robert
Publisher:MDPI AG
Journal title:Genes, 2022-07, Vol.13 (8)
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The Advancement of Appendicitis in Children in the Pre-Pandemic and the Pandemic Year
Author / Creator:Owczarzak, Marcin Jerzy ; Biela, Mateusz ; Paplicki, Mateusz ; Rąpała, Małgorzata ; Jakubaszko-Jabłońska, Joanna ; Kozakiewicz, Marzena ; Miśkiewicz, Piotr ; Niewińska, Kinga ; Godzińska, Ewa Joanna ; Godziński, Jan
Publisher:Switzerland: MDPI AG
Journal title:Journal of clinical medicine, 2024-10, Vol.13 (20), p.6137
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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked ILAS1L/I Gene
Author / Creator:Stembalska, Agnieszka ; Rydzanicz, Ma?gorzata ; Walas, Wojciech ; Gasperowicz, Piotr ; Pollak, Agnieszka ; Pienkowski, Victor Murcia ; Biela, Mateusz ; Klaniewska, Magdalena ; Gamrot, Zuzanna ; Gronska, Ewa ; Ploski, Rafal ; Smigiel, Robert
Publisher:MDPI AG
Journal title:Genes, 2022-04, Vol.13 (5)
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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene
Author / Creator:Stembalska, Agnieszka ; Rydzanicz, Małgorzata ; Walas, Wojciech ; Gasperowicz, Piotr ; Pollak, Agnieszka ; Pienkowski, Victor Murcia ; Biela, Mateusz ; Klaniewska, Magdalena ; Gamrot, Zuzanna ; Gronska, Ewa ; Ploski, Rafal ; Smigiel, Robert
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-05, Vol.13 (5), p.725
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ArticlesPeer ReviewedFull Text
Środowisko górskie jako miejsce aktywnego wypoczynku i związane z tym niebezpieczeństwa z uwzględnieniem wypadków w Tatrach Polskich
Author / Creator:Biela, Mateusz ; Chrostek, Remigiusz ; Pluta, Agnieszka ; Winiarski, Jacek ; Ostromęcka, Urszula ; Bar, Kamil ; Jaremków, Aleksandra
Publisher:Lublin: Institute of Rural Health
Journal title:Medycyna środowiskowa, 2018-01, Vol.21 (3), p.43
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Wpływ stosowania magnezji białej na stan zdrowia użytkowników zamkniętych obiektów wspinaczkowych
Author / Creator:Winiarski, Jacek ; Biela, Mateusz ; Chrostek, Remigiusz ; Popowicz, Ewa ; Ostromęcka, Urszula ; Pawlas, Krystyna
Publisher:Lublin: Institute of Rural Health
Journal title:Medycyna środowiskowa, 2018-01, Vol.21 (1), p.50
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ArticlesPeer ReviewedFull Text
Charakterystyka wypadków lawinowych i przegląd sprzętu lawinowego
Author / Creator:Biela, Mateusz ; Oleksy, Michał ; Oleksy, Monika ; Michalak, Aleksandra ; Krzeszowiak, Jakub
Publisher:Lublin: Institute of Rural Health
Journal title:Medycyna środowiskowa, 2015-01, Vol.18 (4), p.63
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Dolegliwości zdrowotne u rowerzystów w mieście – badanie pilotażowe
Author / Creator:Chrostek, Remigiusz ; Winiarski, Jacek ; Stolarczyk, Karolina ; Ostromęcka, Urszula ; Drapiewski, Arkadiusz ; Piluch, Natalia ; Biela, Mateusz ; Popowicz, Ewa ; Pawlas, Krystyna
Publisher:Lublin: Institute of Rural Health
Journal title:Medycyna środowiskowa, 2017-01, Vol.20 (4), p.28
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ReportsFull Text
Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation
Author / Creator:Biela, Mateusz ; Rydzanicz, Malgorzata ; Jankowska, Agnieszka ; Szlagatys-Sidorkiewicz, Agnieszka ; Rozensztrauch, Anna ; Płoski, Rafał ; Smigiel, Robert
Journal title:Genes, 2022, Vol.13 (2)
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ReportsFull Text
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
Author / Creator:Stembalska, Agnieszka ; Rydzanicz, Małgorzata ; Klaniewska, Magdalena ; Dudarewicz, Lech ; Pollak, Agnieszka ; Biela, Mateusz ; Stawinski, Piotr ; Ploski, Rafal ; Smigiel, Robert
Journal title:Genes, 2022, Vol.13 (8)
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ReportsFull Text
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene
Author / Creator:Stembalska, Agnieszka ; Rydzanicz, Małgorzata ; Walas, Wojciech ; Gasperowicz, Piotr ; Pollak, Agnieszka ; Pienkowski, Victor Murcia ; Biela, Mateusz ; Klaniewska, Magdalena ; Gamrot, Zuzanna ; Gronska, Ewa ; Ploski, Rafal ; Smigiel, Robert
Journal title:Genes, 2022, Vol.13 (5)
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Distinct characteristics of multisystem inflammatory syndrome in children in Poland

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Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

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Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome

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Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review

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COVID-19 mRNA BNT162b2 vaccine immunogenicity among children with a history of paediatric multisystem inflammatory syndrome temporally associated with COVID-19 (PIMS-TS)

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COVID-19 mRNA BNT162b2 vaccine safety and B-cell and T-cell reactogenicity among children with a history of paediatric multisystem inflammatory syndrome temporally associated with COVID-19 (PIMS-TS) -...

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Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation

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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias

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Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations

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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in IDYNC2H1/I Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias

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The Advancement of Appendicitis in Children in the Pre-Pandemic and the Pandemic Year

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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked ILAS1L/I Gene

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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene

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Środowisko górskie jako miejsce aktywnego wypoczynku i związane z tym niebezpieczeństwa z uwzględnieniem wypadków w Tatrach Polskich

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Wpływ stosowania magnezji białej na stan zdrowia użytkowników zamkniętych obiektów wspinaczkowych

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Charakterystyka wypadków lawinowych i przegląd sprzętu lawinowego

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Dolegliwości zdrowotne u rowerzystów w mieście – badanie pilotażowe

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Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation

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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias

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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene

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