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    Wyświetlanie 1-20 z 20
    Tytuł:
    Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor.
    Autorzy:
    Cohen-Barak E; Department of Dermatology, 'Emek' Medical Center, Afula, Israel.; Bruce and Ruth Rappaport Faculty of Medicine, Technion, Haifa, Israel.
    Toledano-Alhadef H; Pediatric Neurology and Child Development Center, Gilbert Israeli and International Neurofibromatosis Center, Dana-Dwek Children Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
    Danial-Farran N; The Genetic Institute, 'Emek' Medical Center, Afula, Israel.
    Livneh I; Bruce and Ruth Rappaport Faculty of Medicine, Technion, Haifa, Israel.
    Mwassi B; Department of Dermatology, 'Emek' Medical Center, Afula, Israel.; Bruce and Ruth Rappaport Faculty of Medicine, Technion, Haifa, Israel.
    Hriesh M; Department of Dermatology, 'Emek' Medical Center, Afula, Israel.
    Zagairy F; Department of Dermatology, 'Emek' Medical Center, Afula, Israel.
    Gafni-Amsalem C; The Genetic Institute, 'Emek' Medical Center, Afula, Israel.
    Bashir H; The Genetic Institute, 'Emek' Medical Center, Afula, Israel.
    Khayat M; The Genetic Institute, 'Emek' Medical Center, Afula, Israel.
    Warrour N; The Genetic Institute, 'Emek' Medical Center, Afula, Israel.
    Sher O; Bone&Soft Tissue Pathology Service, Department of Pathology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
    Marom D; Human Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
    Postovsky S; Department of Pediatric Oncology, 'Emek' Medical Center, Afula, Israel.
    Dujovny T; Department of Pediatric Oncology, 'Emek' Medical Center, Afula, Israel.
    Ziv M; Department of Dermatology, 'Emek' Medical Center, Afula, Israel.
    Shalev SA; Bruce and Ruth Rappaport Faculty of Medicine, Technion, Haifa, Israel.; The Genetic Institute, 'Emek' Medical Center, Afula, Israel.
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    Źródło:
    Experimental dermatology [Exp Dermatol] 2022 May; Vol. 31 (5), pp. 775-780. Date of Electronic Publication: 2021 Dec 20.
    Typ publikacji:
    Case Reports; Journal Article
    MeSH Terms:
    Neurofibroma, Plexiform*/drug therapy
    Neurofibroma, Plexiform*/genetics
    Neurofibroma, Plexiform*/metabolism
    Neurofibromatosis 1*/drug therapy
    Neurofibromatosis 1*/genetics
    Neurofibromatosis 1*/pathology
    Female ; GTP-Binding Protein alpha Subunits/genetics ; GTP-Binding Protein alpha Subunits/metabolism ; Heterozygote ; Humans ; Mitogen-Activated Protein Kinase Kinases ; Neurofibromin 1 ; Protein Kinase Inhibitors/pharmacology ; Protein Kinase Inhibitors/therapeutic use ; Transcription Factors/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    SAM syndrome is characterized by extensive phenotypic heterogeneity.
    Autorzy:
    Taiber S; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Department of Human Molecular Genetics & Biochemistry, Tel Aviv University, Ramat Aviv, Israel.
    Samuelov L; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
    Mohamad J; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Department of Human Molecular Genetics & Biochemistry, Tel Aviv University, Ramat Aviv, Israel.
    Barak EC; Department of Dermatology, Ha'Emek Medical Center, Afula, Israel.; The Ruth and Bruce Rappaport, Faculty of Medicine, Technion, Haifa, Israel.
    Sarig O; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
    Shalev SA; The Ruth and Bruce Rappaport, Faculty of Medicine, Technion, Haifa, Israel.; Genetic Institute, Ha'Emek Medical Center, Afula, Israel.
    Lestringant G; British Ministry of Defense, London, UK.
    Sprecher E; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Department of Human Molecular Genetics & Biochemistry, Tel Aviv University, Ramat Aviv, Israel.
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    Źródło:
    Experimental dermatology [Exp Dermatol] 2018 Jul; Vol. 27 (7), pp. 787-790.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
    MeSH Terms:
    Dermatitis/*genetics
    Desmoglein 1/*genetics
    Hypersensitivity/*genetics
    Wasting Syndrome/*genetics
    Adolescent ; Amino Acid Substitution ; Child, Preschool ; Codon, Nonsense ; DNA Mutational Analysis ; Dermatitis/pathology ; Female ; Heterozygote ; Homozygote ; Humans ; Keratoderma, Palmoplantar/genetics ; Keratoderma, Palmoplantar/pathology ; Loss of Function Mutation ; Male ; Pedigree ; Phenotype ; Point Mutation ; Syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
    Autorzy:
    Spiegel R; 1] Genetic Institute, Emek Medical Center, Afula, Israel [2] Rappaport School of Medicine, Technion, Haifa, Israel.
    Mandel H; 1] Rappaport School of Medicine, Technion, Haifa, Israel [2] Metabolic Unit, Rambam Medical Center, Haifa, Israel.
    Saada A; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    Lerer I; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    Burger A; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    Shaag A; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    Shalev SA; 1] Genetic Institute, Emek Medical Center, Afula, Israel [2] Rappaport School of Medicine, Technion, Haifa, Israel.
    Jabaly-Habib H; Department of Ophthalmology, Emek Medical Center, Afula, Israel.
    Goldsher D; Department of Radiology, Rambam Medical Center, Haifa, Israel.
    Gomori JM; Department of Radiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    Lossos A; Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    Meiner V; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
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    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Aug; Vol. 22 (8), pp. 1019-25. Date of Electronic Publication: 2014 Jan 15.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Genetic Association Studies*
    Mutation*
    Phenotype*
    Mitochondrial Proteins/*genetics
    Peptide Termination Factors/*genetics
    Adolescent ; Adult ; Alternative Splicing ; Amino Acid Sequence ; Brain/pathology ; Child ; Consanguinity ; DNA Mutational Analysis ; Electron Transport Complex IV/metabolism ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Optic Atrophy/genetics ; Pedigree ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.
    Autorzy:
    Spiegel R; 1] Department of Pediatric A', Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel [2] Genetic Institute, Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel.
    Saada A; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
    Halvardson J; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.
    Soiferman D; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
    Shaag A; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
    Edvardson S; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
    Horovitz Y; Department of Pediatric A', Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel.
    Khayat M; Genetic Institute, Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel.
    Shalev SA; Genetic Institute, Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel.
    Feuk L; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.
    Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
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    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Jul; Vol. 22 (7), pp. 902-6. Date of Electronic Publication: 2013 Nov 27.
    Typ publikacji:
    Case Reports; Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Point Mutation*
    Ferredoxins/*genetics
    Mitochondrial Myopathies/*genetics
    Mitochondrial Proteins/*genetics
    Adolescent ; DNA Mutational Analysis ; Electron Transport Complex I/genetics ; Electron Transport Complex I/metabolism ; Electron Transport Complex II/genetics ; Electron Transport Complex II/metabolism ; Exome ; Female ; Ferredoxins/metabolism ; Humans ; Mitochondrial Myopathies/metabolism ; Mitochondrial Proteins/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia.
    Autorzy:
    Caridi G; Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genoa, Italy.
    Dagnino M
    Lugani F
    Shalev SA
    Campagnoli M
    Galliano M
    Spiegel R
    Minchiotti L
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    Źródło:
    European journal of clinical investigation [Eur J Clin Invest] 2013 Jan; Vol. 43 (1), pp. 72-8. Date of Electronic Publication: 2012 Nov 26.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    Chromosome Disorders/*ethnology
    Serum Albumin/*genetics
    Child ; DNA Mutational Analysis ; Heteroduplex Analysis ; Humans ; Israel ; Male ; Middle Aged ; Polymorphism, Single-Stranded Conformational ; Serum Albumin/deficiency
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.
    Autorzy:
    Spiegel R; Genetic Institute, Ha'Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel. />Shaag A
    Mandel H
    Reich D
    Penyakov M
    Hujeirat Y
    Saada A
    Elpeleg O
    Shalev SA
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    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2009 Sep; Vol. 17 (9), pp. 1200-3. Date of Electronic Publication: 2009 Mar 04.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    Acidosis, Lactic/*genetics
    NADH Dehydrogenase/*genetics
    Acidosis, Lactic/pathology ; Base Sequence ; DNA Mutational Analysis ; Fatal Outcome ; Female ; Genotype ; Humans ; Infant, Newborn ; Jews/genetics ; Male
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    A targeted population carrier screening program for severe and frequent genetic diseases in Israel.
    Autorzy:
    Zlotogora J; Department of Community Genetics, Public Health Services, Ministry of Health and the Hebrew University Jerusalem, Tel Hashomer, Ramat Gan, Israel. />Carmi R
    Lev B
    Shalev SA
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    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2009 May; Vol. 17 (5), pp. 591-7. Date of Electronic Publication: 2008 Dec 24.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Genetic Carrier Screening/*methods
    Genetic Diseases, Inborn/*diagnosis
    Genetic Diseases, Inborn/*genetics
    Genetic Testing/*methods
    Child ; Female ; Humans ; Infant, Newborn ; Israel ; Neonatal Screening ; Pregnancy ; Prenatal Diagnosis ; Program Evaluation
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    The fate of 12 recessive mutations in a single village.
    Autorzy:
    Zlotogora J; Department of Genetic Community; Public Health Services, Health Ministry and Hebrew University Jerusalem, Israel. />Hujerat Y
    Barges S
    Shalev SA
    Chakravarti A
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    Źródło:
    Annals of human genetics [Ann Hum Genet] 2007 Mar; Vol. 71 (Pt 2), pp. 202-8.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Genes, Recessive*
    Mutation*
    Arabs/*genetics
    Adult ; Consanguinity ; Female ; Founder Effect ; Heterozygote ; Humans ; Islam ; Israel ; Male ; Pedigree
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-20 z 20

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