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    Tytuł:
    Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients.
    Autorzy:
    Fernández RM; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, Seville, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain.
    Lozano-Arana MD; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, Seville, Spain.
    Sánchez B; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, Seville, Spain.
    Peciña A; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, Seville, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain.
    García-Lozano JC; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, Seville, Spain.
    Borrego S; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, Seville, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain.
    Antiñolo G; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, Seville, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain.
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    Źródło:
    BioMed research international [Biomed Res Int] 2017; Vol. 2017, pp. 9165363. Date of Electronic Publication: 2017 Nov 14.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Myotonic Dystrophy*/diagnosis
    Myotonic Dystrophy*/epidemiology
    Myotonic Dystrophy*/genetics
    Pregnancy Outcome*/epidemiology
    Pregnancy Outcome*/genetics
    Preimplantation Diagnosis*
    Adult ; Cohort Studies ; Female ; Haplotypes/genetics ; Humans ; Male ; Microsatellite Repeats/genetics ; Pregnancy
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain.
    Autorzy:
    Fernández RM; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain.
    Peciña A; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain.
    Lozano-Arana MD; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, 41013 Seville, Spain.
    Sánchez B; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, 41013 Seville, Spain.
    García-Lozano JC; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, 41013 Seville, Spain.
    Borrego S; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain.
    Antiñolo G; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain.
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    Źródło:
    BioMed research international [Biomed Res Int] 2015; Vol. 2015, pp. 965839. Date of Electronic Publication: 2015 Dec 02.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Genetic Testing*
    Preimplantation Diagnosis*
    Fragile X Syndrome/*diagnosis
    Primary Ovarian Insufficiency/*diagnosis
    Adult ; Birth Rate ; Embryo Transfer ; Female ; Fragile X Syndrome/genetics ; Fragile X Syndrome/pathology ; Heterozygote ; Hospitals, University ; Humans ; Pregnancy ; Primary Ovarian Insufficiency/genetics ; Primary Ovarian Insufficiency/pathology ; Spain
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview.
    Autorzy:
    Fernández RM; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain.
    Peciña A; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain.
    Sánchez B; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain.
    Lozano-Arana MD; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain.
    García-Lozano JC; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain.
    Pérez-Garrido R; Hemophilia Unit, University Hospital Virgen del Rocío, 41013 Seville, Spain.
    Núñez R; Hemophilia Unit, University Hospital Virgen del Rocío, 41013 Seville, Spain.
    Borrego S; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain.
    Antiñolo G; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain.
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    Źródło:
    BioMed research international [Biomed Res Int] 2015; Vol. 2015, pp. 406096. Date of Electronic Publication: 2015 Jul 16.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Hospitals, University*
    Genetic Testing/*methods
    Hemophilia A/*diagnosis
    Hemophilia A/*genetics
    Hemophilia B/*diagnosis
    Hemophilia B/*genetics
    Preimplantation Diagnosis/*methods
    Adult ; Embryo, Mammalian/physiology ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Microsatellite Repeats/genetics ; Polymerase Chain Reaction ; Pregnancy ; Spain
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Experience of preimplantation genetic diagnosis with HLA matching at the University Hospital Virgen del Rocío in Spain: technical and clinical overview.
    Autorzy:
    Fernández RM; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Avenida Manuel Siurot s/n, 41013 Seville, Spain.
    Peciña A; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Avenida Manuel Siurot s/n, 41013 Seville, Spain.
    Lozano-Arana MD; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013 Seville, Spain.
    Sánchez B; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013 Seville, Spain.
    Guardiola J; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013 Seville, Spain.
    García-Lozano JC; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013 Seville, Spain.
    Borrego S; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Avenida Manuel Siurot s/n, 41013 Seville, Spain.
    Antiñolo G; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Avenida Manuel Siurot s/n, 41013 Seville, Spain.
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    Źródło:
    BioMed research international [Biomed Res Int] 2014; Vol. 2014, pp. 560160. Date of Electronic Publication: 2014 Apr 24.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    HLA Antigens/*genetics
    Histocompatibility Testing/*methods
    Preimplantation Diagnosis/*methods
    Biopsy ; Cord Blood Stem Cell Transplantation ; Female ; Fertilization in Vitro ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/immunology ; Hematopoietic Stem Cell Transplantation ; Humans ; Infant, Newborn ; Male ; Molecular Biology ; Pregnancy ; Pregnancy Outcome ; Reproducibility of Results ; Reproductive Techniques, Assisted ; Spain
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Novel one-step multiplex PCR-based method for HLA typing and preimplantational genetic diagnosis of β-Thalassemia.
    Autorzy:
    Fernández RM; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Avenida Manuel Siurot, s/n, 41013 Seville, Spain.
    Peciña A
    Lozano-Arana MD
    García-Lozano JC
    Borrego S
    Antiñolo G
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    Źródło:
    BioMed research international [Biomed Res Int] 2013; Vol. 2013, pp. 585106. Date of Electronic Publication: 2013 Apr 04.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Histocompatibility Testing/*methods
    Multiplex Polymerase Chain Reaction/*methods
    beta-Globins/*genetics
    beta-Thalassemia/*diagnosis
    Adult ; Child ; Embryo Transfer ; Female ; Fertilization in Vitro ; Humans ; Male ; Oocytes/cytology ; Oocytes/metabolism ; Pregnancy ; Preimplantation Diagnosis ; Reproductive Techniques, Assisted ; Spain ; beta-Thalassemia/blood ; beta-Thalassemia/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-5 z 5

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