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    Wyświetlanie 1-3 z 3
    Tytuł:
    Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers.
    Autorzy:
    Mohammadi MF; Department of Cell and Molecular Sciences, Faculty of Biological Sciences Kharazmi University Tehran Iran.
    Fateh ST; School of Medicine Tehran University of Medical Sciences Tehran Iran.
    Aghajani H; Faculty of Medicine, Tehran Medical Sciences Branch Islamic Azad University Tehran Iran.
    Bahramy A; Department of Medical Genetics, Faculty of Medical Sciences Tarbiat Modares University Tehran Iran.
    Zaheryani SMS; Jwan Private Clinic Boukan Iran.
    Behroozi J; Department of Medical Genetics, Faculty of Medical Sciences Tarbiat Modares University Tehran Iran.; Research Center for Cancer Screening and Epidemiology AJA University of Medical Sciences Tehran Iran.
    Kahani SM; Department of Medical Genetics, Faculty of Medical Sciences Tarbiat Modares University Tehran Iran.
    Mohammadi P; Department of Medical Genetics, Faculty of Medical Sciences Tarbiat Modares University Tehran Iran.
    Garshasbi M; Department of Medical Genetics, Faculty of Medical Sciences Tarbiat Modares University Tehran Iran.
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    Źródło:
    Clinical case reports [Clin Case Rep] 2023 Oct 23; Vol. 11 (10), pp. e8062. Date of Electronic Publication: 2023 Oct 23 (Print Publication: 2023).
    Typ publikacji:
    Case Reports
    Raport
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Correction: Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
    Autorzy:
    Dehnavi AZ; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Bemanalizadeh M; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
    Kahani SM; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran, Iran.
    Ashrafi MR; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Rohani M; Skull Base Research Center, The Five Senses Health Institute, Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.; Department of Neurology, Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
    Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
    Heidari M; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Hosseinpour S; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Amini B; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Zokaei S; Dr. Farhud's Genetic Clinic, Tehran, Iran.; School of Advanced Medical Science, Islamic Azad University, Tehran, Iran.
    Rezaei Z; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Aryan H; Dr. Farhud's Genetic Clinic, Tehran, Iran.; National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
    Amanat M; Department of Neurology, Johns Hopkins Medicine, Baltimore, MD, USA.
    Vahidnezhad H; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
    Mohammadi P; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran, Iran.; Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran, Iran.
    Garshasbi M; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran, Iran. .
    Tavasoli AR; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. .; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. .; Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran, Iran. .
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 17; Vol. 18 (1), pp. 190. Date of Electronic Publication: 2023 Jul 17.
    Typ publikacji:
    Published Erratum
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
    Autorzy:
    Dehnavi AZ; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Bemanalizadeh M; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
    Kahani SM; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran, Iran.
    Ashrafi MR; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Rohani M; Skull Base Research Center, The Five Senses Health Institute, Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.; Department of Neurology, Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
    Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
    Heidari M; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Hosseinpour S; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Amini B; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Zokaei S; Dr. Farhud's Genetic Clinic, Tehran, Iran.; School of Advanced Medical Science, Islamic Azad University, Tehran, Iran.
    Rezaei Z; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Aryan H; Dr. Farhud's Genetic Clinic, Tehran, Iran.; National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
    Amanat M; Department of Neurology, Johns Hopkins Medicine, Baltimore, MD, USA.
    Vahidnezhad H; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
    Mohammadi P; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran, Iran.; Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran, Iran.
    Garshasbi M; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran, Iran. .
    Tavasoli AR; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. .; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. .; Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran, Iran. .
    Pokaż więcej
    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 05; Vol. 18 (1), pp. 177. Date of Electronic Publication: 2023 Jul 05.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Neuroaxonal Dystrophies*/genetics
    Parkinsonian Disorders*/genetics
    Adult ; Child ; Humans ; Genotype ; Group VI Phospholipases A2/genetics ; Mutation/genetics ; Phenotype
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
      Wyświetlanie 1-3 z 3

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