Search Results - Salachna, Dominik

  • Showing 1 - 8 results of 8
Refine Results
  1. 1
    Familial Partial Lipodystrophy-Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3

    Familial Partial Lipodystrophy-Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3 by Rutkowska, Lena, Salachna, Dominik, Lewandowski, Krzysztof, Lewiński, Andrzej, Gach, Agnieszka

    Published in Diagnostics (Basel)
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  2. 2
    New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism

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

    Get full text
    Items that cite this one
    Article
    Save to List
    Saved in:
  3. 3
    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... by Sałacińska, Kinga, Pinkier, Iwona, Rutkowska, Lena, Chlebna-Sokół, Danuta, Jakubowska-Pietkiewicz, Elżbieta, Michałus, Izabela, Kępczyński, Łukasz, Salachna, Dominik, Jamsheer, Aleksander, Bukowska-Olech, Ewelina, Jaszczuk, Ilona, Jakubowski, Lucjusz, Gach, Agnieszka

    Published in Frontiers in genetics
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  4. 4
    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 by Sałacińska, Kinga, Pinkier, Iwona, Rutkowska, Lena, Chlebna-Sokół, Danuta, Jakubowska-Pietkiewicz, Elżbieta, Michałus, Izabela, Kępczyński, Łukasz, Salachna, Dominik, Wieczorek-Cichecka, Nina, Piotrowicz, Małgorzata, Chilarska, Tatiana, Jamsheer, Aleksander, Matusik, Paweł, Wilk, Małgorzata, Petriczko, Elżbieta, Giżewska, Maria, Stecewicz, Iwona, Walczak, Mieczysław, Rybak-Krzyszkowska, Magda, Lewiński, Andrzej, Gach, Agnieszka

    Get full text
    Items that this one cites
    Article
    Save to List
    Saved in:
  5. 5
    The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta

    The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta by Sałacińska, Kinga, Michałus, Izabela, Pinkier, Iwona, Rutkowska, Lena, Chlebna‐Sokół, Danuta, Jakubowska‐Pietkiewicz, Elżbieta, Kępczyński, Łukasz, Salachna, Dominik, Gach, Agnieszka

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  6. 6
    Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease

    Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease by Gach, Agnieszka, Pinkier, Iwona, Sałacińska, Kinga, Szarras-Czapnik, Maria, Salachna, Dominik, Kucińska, Agata, Rybak-Krzyszkowska, Magda, Sakowicz, Agata

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  7. 7
    Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients

    Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients by Rutkowska, Lena, Pinkier, Iwona, Sałacińska, Kinga, Kępczyński, Łukasz, Salachna, Dominik, Lewek, Joanna, Banach, Maciej, Matusik, Paweł, Starostecka, Ewa, Lewiński, Andrzej, Płoski, Rafał, Stawiński, Piotr, Gach, Agnieszka

    Published in Genes
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  8. 8
    Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel

    Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel by Rutkowska, Lena, Sałacińska, Kinga, Salachna, Dominik, Matusik, Paweł, Pinkier, Iwona, Kępczyński, Łukasz, Piotrowicz, Małgorzata, Starostecka, Ewa, Lewiński, Andrzej, Gach, Agnieszka

    Published in Genes
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:

Search Tools: