Search Results - Renata, Glazar

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  1. 1
    A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity

    A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity by Czarny-Ratajczak, Malwina, Lohiniva, Jaana, Rogala, Piotr, Kozlowski, Kazimierz, Perälä, Merja, Carter, Liisa, Spector, Tim D., Kolodziej, Lukasz, Seppänen, Ulpu, Glazar, Renata, Królewski, Jan, Latos-Bielenska, Anna, Ala-Kokko, Leena

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  2. 2
    Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

    Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland by Wozniak, Anna, Wolnik-Brzozowska, Danuta, Wisniewska, Marzena, Glazar, Renata, Materna-Kiryluk, Anna, Moszura, Tomasz, Badura-Stronka, Magdalena, Skolozdrzy, Joanna, Krawczynski, Maciej R, Zeyland, Joanna, Bobkowski, Waldemar, Slomski, Ryszard, Latos-Bielenska, Anna, Siwinska, Aldona

    Published in BMC pediatrics
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  3. 3
    Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia

    Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia by Hordyjewska‐Kowalczyk, Ewa, Sowińska‐Seidler, Anna, Olech, Ewelina M., Socha, Magdalena, Glazar, Renata, Kruczek, Anna, Latos‐Bieleńska, Anna, Tylzanowski, Przemko, Jamsheer, Aleksander

    Published in Clinical genetics
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  4. 4
    WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy

    WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy by Walczak‐Sztulpa, Joanna, Wawrocka, Anna, Sikora, Weronika, Pawlak, Marta, Bukowska‐Olech, Ewelina, Kopaczewski, Bartłomiej, Urzykowska, Agnieszka, Arts, Heleen H., Gotz‐Więckowska, Anna, Grenda, Ryszard, Latos‐Bieleńska, Anna, Glazar, Renata

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  5. 5
    Rare malformation syndromes in polish registry of congenital malformations in 2014-2017

    Rare malformation syndromes in polish registry of congenital malformations in 2014-2017 by Anna, Latos-Bielenska, Anna, Materna-Kiryluk, Katarzyna, Wisniewska, Anna, Jamry-Dziurla, Karolina, Matuszewska, Renata, Glazar, Aleksander, Jamsheer, Dorota, Wicher, Ryszard, Slezak, Jacek, Pilch

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  6. 6
    Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

    Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? by Jezela-Stanek, Aleksandra, Ciara, Elżbieta, Małunowicz, Ewa, Chrzanowska, Krystyna, Latos-Bieleńska, Anna, Krajewska-Walasek, Małgorzata

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  7. 7
    WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy

    WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy by Walczak-Sztulpa, Joanna, Wawrocka, Anna, Sikora, Weronika, Pawlak, Marta, Bukowska-Olech, Ewelina, Kopaczewski, Bartłomiej, Urzykowska, Agnieszka, Arts, Heleen H, Gotz-Więckowska, Anna, Grenda, Ryszard, Latos-Bieleńska, Anna, Glazar, Renata

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