Showing 1 - 7 results of 7 for search 'Agnieszka Stembalska', query time: 0.03s Refine Results
  1. 1
    Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

    Prenatal diagnosis--principles of diagnostic procedures and genetic counseling. by Justyna Gil, Karolina Pesz, Ryszard Slezak, Agnieszka Stembalska, Maria Sasiadek

    Published 2008-04-01
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  2. 2
    Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

    Prenatal diagnosis--principles of diagnostic procedures and genetic counseling. by Ryszard Slezak, Agnieszka Stembalska, Karolina Pesz, Justyna Gil, Maria Sasiadek

    Published 2008-04-01
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  3. 3
    Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with <i>TMEM67</i> Mutations

    Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with <i>TMEM67</i> Mutations by Agnieszka Stembalska, Małgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Rafal Ploski, Robert Smigiel

    Published 2021-07-01
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  4. 4
    Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in <i>DYNC2H1</i> Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias

    Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in <i>DYNC2H1</i> Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skele... by Agnieszka Stembalska, Małgorzata Rydzanicz, Magdalena Klaniewska, Lech Dudarewicz, Agnieszka Pollak, Mateusz Biela, Piotr Stawinski, Rafal Ploski, Robert Smigiel

    Published 2022-07-01
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  5. 5
    Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population

    Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population by Marta Podralska, Iwona Ziółkowska-Suchanek, Magdalena Żurawek, Agnieszka Dzikiewicz-Krawczyk, Ryszard Słomski, Jerzy Nowak, Agnieszka Stembalska, Karolina Pesz, Maria Mosor

    Published 2018-04-01
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  6. 6
    Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked <i>LAS1L</i> Gene

    Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked <i>LAS1L</i> Gene by Agnieszka Stembalska, Małgorzata Rydzanicz, Wojciech Walas, Piotr Gasperowicz, Agnieszka Pollak, Victor Murcia Pienkowski, Mateusz Biela, Magdalena Klaniewska, Zuzanna Gamrot, Ewa Gronska, Rafal Ploski, Robert Smigiel

    Published 2022-04-01
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  7. 7
    Breakpoint Mapping of Symptomatic Balanced Translocations Links the <em>EPHA6</em>, <em>KLF13</em> and <em>UBR3</em> Genes to Novel Disease Phenotype

    Breakpoint Mapping of Symptomatic Balanced Translocations Links the <em>EPHA6</em>, <em>KLF13</em> and <em>UBR3</em> Genes to Novel Disease Phenotype by Victor Murcia Pienkowski, Marzena Kucharczyk, Małgorzata Rydzanicz, Barbara Poszewiecka, Katarzyna Pachota, Marlena Młynek, Piotr Stawiński, Agnieszka Pollak, Joanna Kosińska, Katarzyna Wojciechowska, Monika Lejman, Agata Cieślikowska, Dorota Wicher, Agnieszka Stembalska, Karolina Matuszewska, Anna Materna-Kiryluk, Anna Gambin, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Rafał Płoski

    Published 2020-04-01
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