About: Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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Description
  • Noonan syndrome (NS) and related disorders are caused by mutations in various genes encoding molecules involved in the RAS-MAPK signalling cascade.
  • Noonan syndrome (NS) and related disorders are caused by mutations in various genes encoding molecules involved in the RAS-MAPK signalling cascade. (en)
Title
  • Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence
  • Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence (en)
skos:prefLabel
  • Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence
  • Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence (en)
skos:notation
  • RIV/00216208:11130/09:5649!RIV10-MZ0-11130___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(NR9457)
http://linked.open...iv/cisloPeriodika
  • 5
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 330034
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11130/09:5649
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • Noonan syndrome; LEOPARD syndrome; Cardio-facio-cutaneous syndrome; Mitogen-activated protein kinases; BRAF (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • NL - Nizozemsko
http://linked.open...ontrolniKodProRIV
  • [08BF66C9B6A9]
http://linked.open...i/riv/nazevZdroje
  • European Journal of Medical Genetics
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 52
http://linked.open...iv/tvurceVysledku
  • Koudová, Monika
  • Seemanová, Eva
  • Zenker, M.
http://linked.open...ain/vavai/riv/wos
  • 000270124300012
issn
  • 1769-7212
number of pages
http://localhost/t...ganizacniJednotka
  • 11130
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