Hasil Pencarian - Aleksander Jamsheer

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  1. 1
    A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus

    A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus oleh Anna Sowińska-Seidler, Magdalena Socha, Anna Szoszkiewicz, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Aleksander Jamsheer, Aleksander Jamsheer

    Diterbitkan 2023-10-01
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  2. 2
    Molecular landscape of congenital vertebral malformations: recent discoveries and future directions

    Molecular landscape of congenital vertebral malformations: recent discoveries and future directions oleh Anna Szoszkiewicz, Ewelina Bukowska-Olech, Aleksander Jamsheer

    Diterbitkan 2024-01-01
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  3. 3
    Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies

    Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies oleh Ewelina Bukowska-Olech, Wiktoria Trzebiatowska, Wiktor Czech, Olga Drzymała, Piotr Frąk, Franciszek Klarowski, Piotr Kłusek, Anna Szwajkowska, Aleksander Jamsheer, Aleksander Jamsheer

    Diterbitkan 2021-12-01
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  4. 4
    SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably

    SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably oleh Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Jolanta Wierzba, Aleksander Jamsheer

    Diterbitkan 2022-08-01
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  5. 5
    The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings

    The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings oleh Anna Sowińska-Seidler, Paweł Sztromwasser, Paweł Sztromwasser, Katarzyna Zawadzka, Dawid Sielski, Ewelina Bukowska-Olech, Paweł Zawadzki, Paweł Zawadzki, Kazimierz Kozłowski, Aleksander Jamsheer, Aleksander Jamsheer

    Diterbitkan 2020-10-01
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  6. 6
    Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions

    Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regi... oleh Kinga Sałacińska, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna-Sokół, Elżbieta Jakubowska-Pietkiewicz, Izabela Michałus, Łukasz Kępczyński, Dominik Salachna, Aleksander Jamsheer, Aleksander Jamsheer, Ewelina Bukowska-Olech, Ilona Jaszczuk, Lucjusz Jakubowski, Agnieszka Gach

    Diterbitkan 2021-07-01
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  7. 7
    Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

    Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses oleh Ewelina Bukowska-Olech, Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Grzegorz Koczyk, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer, Aleksander Jamsheer

    Diterbitkan 2020-11-01
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  8. 8
    X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes

    X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes oleh Aleksandra Rojek, Maciej R. Krawczynski, Aleksander Jamsheer, Anna Sowinska-Seidler, Barbara Iwaniszewska, Ewa Malunowicz, Marek Niedziela

    Diterbitkan 2016-01-01
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  9. 9
    Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach

    Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach oleh Ewelina M. Olech, Tomasz Zemojtel, Anna Sowińska-Seidler, Peter N. Robinson, Stefan Mundlos, Marek Karczewski, Aleksander Jamsheer

    Diterbitkan 2016-05-01
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  10. 10
    Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene

    Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene oleh Ewelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska, Aleksander Jamsheer

    Diterbitkan 2021-06-01
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  11. 11
    Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature

    Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature oleh Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Marek Niedziela, Anna Sowińska-Seidler, Paweł Sztromwasser, Paweł Sztromwasser, Aleksander Jamsheer, Monika Obara-Moszyńska

    Diterbitkan 2022-10-01
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  12. 12
    Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects

    Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects oleh Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Dawid Larysz, Dawid Larysz, Paweł Gawliński, Grzegorz Koczyk, Grzegorz Koczyk, Delfina Popiel, Lidia Gurba-Bryśkiewicz, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Zuzanna Adamek, Aleksandra Szczepankiewicz, Paweł Dominiak, Filip Glista, Karolina Matuszewska, Karolina Matuszewska, Aleksander Jamsheer, Aleksander Jamsheer

    Diterbitkan 2022-04-01
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  13. 13
    Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

    Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis oleh Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Maciej R. Krawczyński, Machteld M. Oud, Machteld M. Oud

    Diterbitkan 2022-07-01
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  14. 14
    Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

    Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease oleh Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska

    Diterbitkan 2020-02-01
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  15. 15
    New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism

    New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism oleh Agnieszka Gach, Iwona Pinkier, Urszula Wysocka, Kinga Sałacińska, Dominik Salachna, Maria Szarras-Czapnik, Aleksandra Pietrzyk, Agata Sakowicz, Anna Nykel, Lena Rutkowska, Magda Rybak-Krzyszkowska, Magda Socha, Aleksander Jamsheer, Lucjusz Jakubowski

    Diterbitkan 2020-09-01
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  16. 16
    SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD)

    SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD) oleh Bartlomiej Budny, Tomasz Zemojtel, Tomasz Zemojtel, Malgorzata Kaluzna, Pawel Gut, Marek Niedziela, Monika Obara-Moszynska, Barbara Rabska-Pietrzak, Katarzyna Karmelita-Katulska, Marek Stajgis, Urszula Ambroziak, Tomasz Bednarczuk, Elzbieta Wrotkowska, Ewelina Bukowska-Olech, Aleksander Jamsheer, Marek Ruchala, Katarzyna Ziemnicka

    Diterbitkan 2020-06-01
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  17. 17
    The landscape of the COVID-19 pandemic in Poland emerging from epidemiological and genomic data

    The landscape of the COVID-19 pandemic in Poland emerging from epidemiological and genomic data oleh Barbara Mirska, Michal Zenczak, Katarzyna Nowis, Ireneusz Stolarek, Jan Podkowiński, Magdalena Rakoczy, Małgorzata Marcinkowska-Swojak, Natalia Koralewska, Paweł Zmora, Elżbieta Lenartowicz Onyekaa, Marcin Osuch, Katarzyna Łasińska, Jadwiga Kuczma-Napierała, Marcelina Jaworska, Łukasz Madej, Marzena Ciechomska, Aleksander Jamsheer, Krzysztof Kurowski, Marek Figlerowicz, Luiza Handschuh

    Diterbitkan 2024-06-01
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  18. 18
    NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study

    NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study oleh Kinga Sałacińska, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna-Sokół, Elżbieta Jakubowska-Pietkiewicz, Izabela Michałus, Łukasz Kępczyński, Dominik Salachna, Nina Wieczorek-Cichecka, Małgorzata Piotrowicz, Tatiana Chilarska, Aleksander Jamsheer, Paweł Matusik, Małgorzata Wilk, Elżbieta Petriczko, Maria Giżewska, Iwona Stecewicz, Mieczysław Walczak, Magda Rybak-Krzyszkowska, Andrzej Lewiński, Agnieszka Gach

    Diterbitkan 2023-09-01
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