About: A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17     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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rdf:type
Description
  • We describe a girl with neurofibromatosis type 1 (NF1), mild dysmorphic features, growth and mental retardation, autism, and mosaicism of ring chromosome 17 and chromosome 17 monosomy. The extent of genetic material deleted from the ring chromosome was d
  • We describe a girl with neurofibromatosis type 1 (NF1), mild dysmorphic features, growth and mental retardation, autism, and mosaicism of ring chromosome 17 and chromosome 17 monosomy. The extent of genetic material deleted from the ring chromosome was d (en)
  • We describe a girl with neurofibromatosis type 1 (NF1), mild dysmorphic features, growth and mental retardation, autism, and mosaicism of ring chromosome 17 and chromosome 17 monosomy. The extent of genetic material deleted from the ring chromosome was (cs)
Title
  • A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17
  • A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17 (en)
  • Dívka s neurofibromatózou typ 1, atypickým autismem a kruhovým chromozómem 17 v mozaice (cs)
skos:prefLabel
  • A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17
  • A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17 (en)
  • Dívka s neurofibromatózou typ 1, atypickým autismem a kruhovým chromozómem 17 v mozaice (cs)
skos:notation
  • RIV/00064203:_____/07:1525!RIV08-MZ0-00064203
http://linked.open.../vavai/riv/strany
  • 76-81
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • Z(MSM0021620813), Z(MZ000064203), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika
  • 1
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
  • 407902
http://linked.open...ai/riv/idVysledku
  • RIV/00064203:_____/07:1525
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • ring chromosome 17; ring syndrome; neurofibromarosis; autism; mental retardation; cancer susceptibility; mental-retardation; genomewide screen; phenotype; genes (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [30B9669CD26C]
http://linked.open...i/riv/nazevZdroje
  • American journal of medical genetics. Part A
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 143A
http://linked.open...iv/tvurceVysledku
  • Hrdlička, Michal
  • Novotná, Drahuše
  • Bendová, Šárka
  • Petrák, Bořivoj
  • Havlovicová, Markéta
http://linked.open...n/vavai/riv/zamer
issn
  • 1552-4825
number of pages
is http://linked.open...avai/riv/vysledek of
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