Hasil Pencarian - Mateusz Dawidziuk

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  1. 1
    A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly

    A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly oleh Slawomir Bartoszewski, Mateusz Dawidziuk, Natalia Kasica, Roma Durak, Marta Jurek, Aleksandra Podwysocka, Dorothy Lys Guilbride, Piotr Podlasz, Cecilia Lanny Winata, Pawel Gawlinski

    Diterbitkan 2022-09-01
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  2. 2
    De Novo <i>ACTG1</i> Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome

    De Novo <i>ACTG1</i> Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome oleh Mateusz Dawidziuk, Anna Kutkowska-Kazmierczak, Ewelina Bukowska-Olech, Marta Jurek, Ewa Kalka, Dorothy Lys Guilbride, Mariusz Ireneusz Furmanek, Monika Bekiesinska-Figatowska, Jerzy Bal, Pawel Gawlinski

    Diterbitkan 2022-01-01
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  3. 3
    Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes

    Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes oleh Grzegorz Witkowski, Bartlomiej Szulczyk, Ewa Nurowska, Marta Jurek, Michal Pasierski, Agata Lipiec, Agnieszka Charzewska, Mateusz Dawidziuk, Michal Milewski, Szymon Owsiak, Rafal Rola, Halina Sienkiewicz Jarosz, Dorota Hoffman-Zacharska

    Diterbitkan 2024-02-01
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  4. 4
    A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

    A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy oleh Joanna Oswiecimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora, James R. Lupski, Wojciech Wiszniewski, Pawel Gawlinski

    Diterbitkan 2019-09-01
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  5. 5
    Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series

    Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series oleh Agnieszka Charzewska, Iwona Terczyńska, Agata Lipiec, Tomasz Mazurczak, Paulina Górka-Skoczylas, Róża Szlendak, Karolina Kanabus, Renata Tataj, Mateusz Dawidziuk, Bartosz Wojtaś, Bartłomiej Gielniewski, Jerzy Bal, Elżbieta Stawicka, Dorota Hoffman-Zacharska

    Diterbitkan 2023-01-01
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  6. 6
    The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies

    The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies oleh Elżbieta Kaja, Adrian Lejman, Dawid Sielski, Mateusz Sypniewski, Tomasz Gambin, Mateusz Dawidziuk, Tomasz Suchocki, Paweł Golik, Marzena Wojtaszewska, Magdalena Mroczek, Maria Stępień, Joanna Szyda, Karolina Lisiak-Teodorczyk, Filip Wolbach, Daria Kołodziejska, Katarzyna Ferdyn, Maciej Dąbrowski, Alicja Woźna, Marcin Żytkiewicz, Anna Bodora-Troińska, Waldemar Elikowski, Zbigniew J. Król, Artur Zaczyński, Agnieszka Pawlak, Robert Gil, Waldemar Wierzba, Paula Dobosz, Katarzyna Zawadzka, Paweł Zawadzki, Paweł Sztromwasser

    Diterbitkan 2022-04-01
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  7. 7
    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations oleh Elizabeth A. Werren, Emily R. Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, K. L. I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun A. Rappold, Rachel Rabin, John G. Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie L. Bielas

    Diterbitkan 2024-05-01
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