Costellos syndrom Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/costellos-syndrom
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    Costellos syndrom er en sjelden, medfødt tilstand som kjennetegnes ved karakteristiske, grove ansiktstrekk, kortvoksthet, distinktiv utseende og stilling ... ble tatt opp på kurs om Noonans syndrom, Costellos syndrom og cardiofaciocutant syndrom (CFC) på Frambu kompetansesenter for ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1193/differentials
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    ... nlm.nih.gov/pubmed/16825433?tool=bestpractice.com Costello syndrome SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Moderate cognitive impairment, ... Stabley DL, et al. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1193/differentials
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    ... nlm.nih.gov/pubmed/16825433?tool=bestpractice.com Costello syndrome SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Moderate cognitive impairment, ... Stabley DL, et al. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1193/pdf/1193.pdf
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    ... and NS, the mutations concerned are different. [ 59] Costello syndrome • Moderate cognitive • Molecular genetic testing will impairment, coarser ... Stabley DL, et al. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1193/pdf/1193.pdf
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    ... and NS, the mutations concerned are different. [ 59] Costello syndrome • Moderate cognitive • Molecular genetic testing will impairment, coarser ... Stabley DL, et al. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet ...
  6. Frambu
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    www.frambu.no/diagnoser
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    ... dystrofi Infantil GM2 Polymerase-gamma-relatert sykdom NARP Costellos syndrom Pearsons syndrom Klinefelters syndrom Fragilt X syndrom Gangliosidose ... anomali face syndrom CoPAN Cornelia de Langes syndrom Costellos syndrom Cowdens syndrom CPEO Cri du chat syndrom Cystinose ...
  7. Frambu
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    www.frambu.no/cardiofaciocutant-syndrom
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    ... ble tatt opp på kurs om Noonans syndrom, Costellos syndrom og cardiofaciocutant syndrom (CFC) på Frambu kompetansesenter for ...
  8. Frambu
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    www.frambu.no/noonans-syndrom
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    ... ble tatt opp på kurs om Noonans syndrom, Costellos syndrom og cardiofaciocutant syndrom (CFC) på Frambu kompetansesenter for ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1193/references
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    ... Stabley DL, et al. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet ... S, Reed H, et al. Cancer in Noonan, Costello, Cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet. ...
  10. Frambu
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    www.frambu.no
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    ... dystrofi Infantil GM2 Polymerase-gamma-relatert sykdom NARP Costellos syndrom Pearsons syndrom Klinefelters syndrom Fragilt X syndrom Gangliosidose ...
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