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rdf:type
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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)
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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)
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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)
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skos:notation
| - RIV/00064203:_____/07:1525!RIV08-MZ0-00064203
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http://linked.open.../vavai/riv/strany
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - Z(MSM0021620813), Z(MZ000064203), Z(MZ0FNM2005)
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00064203:_____/07:1525
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - ring chromosome 17; ring syndrome; neurofibromarosis; autism; mental retardation; cancer susceptibility; mental-retardation; genomewide screen; phenotype; genes (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - American journal of medical genetics. Part A
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Hrdlička, Michal
- Novotná, Drahuše
- Bendová, Šárka
- Petrák, Bořivoj
- Havlovicová, Markéta
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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