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Anna Jakubiuk-Tomaszuk

Showing results (1-10 of 19) with videos related to

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Archives of Iranian Medicine|June 16, 2020
Thyroid Function in Children with Down Syndrome in the Polish Population: A Case-Control StudyBeata Zelazowska-Rutkowska, Anna Jakubiuk-Tomaszuk, Bogdan Cylwik
Pharmacological Reports : PR|October 21, 2015
Decrease of interleukin (IL)17A gene expression in leucocytes and in the amount of IL-17A protein in CD4+ T cells in children with Down SyndromeAnna Jakubiuk-Tomaszuk, Wojciech Sobaniec, Małgorzata Rusak, et al.
Frontiers in Genetics|February 23, 2023
Case report: Variants in the <i>ERCC4</i> gene as a rare cause of cerebellar ataxia with choreaJoanna Kulikowska, Anna Jakubiuk-Tomaszuk, Małgorzata Rydzanicz, et al.
Advances in Experimental Medicine and Biology|March 19, 2016
Cytogenomic Evaluation of Children with Congenital Anomalies: Critical Implications for Diagnostic Testing and Genetic CounselingKrzysztof Szczałuba, Anna Jakubiuk-Tomaszuk, Marta Kędzior, et al.
Orphanet Journal of Rare Diseases|June 27, 2021
Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 geneEwelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, et al.
Clinical Genetics|July 26, 2019
Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interactionAnna Jakubiuk-Tomaszuk, Victor Murcia Pienkowski, Szymon Zietkiewicz, et al.
Clinical Genetics|October 24, 2021
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st centuryMagdalena Badura-Stronka, Adam Sebastian Hirschfeld, Anna Winczewska-Wiktor, et al.
Medycyna Wieku Rozwojowego|February 13, 2014
The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher diseaseDorota Hoffman-Zacharska, Hanna Mierzewska, Elżbieta Szczepanik, et al.
Frontiers in Neurology|July 2, 2024
Case report: Cerebrotendinous xanthomatosis treatment follow-upKarolina Ejsmont-Sowała, Tomasz Książek, Katarzyna Maciorowska-Rosłan, et al.
International Journal of Molecular Sciences|October 14, 2023
<i>NTHL1</i> Gene Mutations in Polish Polyposis Patients-Weighty Player or Vague Background?Natalia Grot, Marta Kaczmarek-Ryś, Emilia Lis-Tanaś, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
Archives of Iranian Medicine|June 16, 2020
Thyroid Function in Children with Down Syndrome in the Polish Population: A Case-Control StudyBeata Zelazowska-Rutkowska, Anna Jakubiuk-Tomaszuk, Bogdan Cylwik
Pharmacological Reports : PR|October 21, 2015
Decrease of interleukin (IL)17A gene expression in leucocytes and in the amount of IL-17A protein in CD4+ T cells in children with Down SyndromeAnna Jakubiuk-Tomaszuk, Wojciech Sobaniec, Małgorzata Rusak, et al.
Frontiers in Genetics|February 23, 2023
Case report: Variants in the <i>ERCC4</i> gene as a rare cause of cerebellar ataxia with choreaJoanna Kulikowska, Anna Jakubiuk-Tomaszuk, Małgorzata Rydzanicz, et al.
Advances in Experimental Medicine and Biology|March 19, 2016
Cytogenomic Evaluation of Children with Congenital Anomalies: Critical Implications for Diagnostic Testing and Genetic CounselingKrzysztof Szczałuba, Anna Jakubiuk-Tomaszuk, Marta Kędzior, et al.
Orphanet Journal of Rare Diseases|June 27, 2021
Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 geneEwelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, et al.
Clinical Genetics|July 26, 2019
Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interactionAnna Jakubiuk-Tomaszuk, Victor Murcia Pienkowski, Szymon Zietkiewicz, et al.
Clinical Genetics|October 24, 2021
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st centuryMagdalena Badura-Stronka, Adam Sebastian Hirschfeld, Anna Winczewska-Wiktor, et al.
Medycyna Wieku Rozwojowego|February 13, 2014
The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher diseaseDorota Hoffman-Zacharska, Hanna Mierzewska, Elżbieta Szczepanik, et al.
Frontiers in Neurology|July 2, 2024
Case report: Cerebrotendinous xanthomatosis treatment follow-upKarolina Ejsmont-Sowała, Tomasz Książek, Katarzyna Maciorowska-Rosłan, et al.
International Journal of Molecular Sciences|October 14, 2023
<i>NTHL1</i> Gene Mutations in Polish Polyposis Patients-Weighty Player or Vague Background?Natalia Grot, Marta Kaczmarek-Ryś, Emilia Lis-Tanaś, et al.
Pageof 2