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rdf:type
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Description
| - X-linked agammaglobulinemia (XLA) is characterized by low levels of B-lymphocytes with early-onset, recurrent, microbial infections occasionally causing neurological symptoms. We observed an atypical clinical course of XLA, complicated since early childh
- X-linked agammaglobulinemia (XLA) is characterized by low levels of B-lymphocytes with early-onset, recurrent, microbial infections occasionally causing neurological symptoms. We observed an atypical clinical course of XLA, complicated since early childh (en)
- Popis rozsáhlé delece na X chromozomu, která vysvětluje komplexní mnohočetná postižení u pacientů s Brutonovou agamagloublinémií (cs)
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Title
| - Contiguous x-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes
- Kontinuální delece zahrnující geny BTK, TIMM8A, TAF7L a DRP2 (cs)
- Contiguous x-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes (en)
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skos:prefLabel
| - Contiguous x-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes
- Kontinuální delece zahrnující geny BTK, TIMM8A, TAF7L a DRP2 (cs)
- Contiguous x-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes (en)
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skos:notation
| - RIV/00064203:_____/07:1587!RIV08-MSM-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
| - P(1M0520), Z(MSM0021620812)
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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:_____/07:1587
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - X-linked agammaglobulinemia (XLA); Bruton tyrosine kinase (BTK); Mohr-Tranebjaerg syndrome; immunodeficiency; sensorineural deafness; recessive deafness syndrome; brutons tyrosine kinase; linked agammaglobulinemia; mental deficiency; ddp1/timm8a-timm13 complex; dystonia syndrome; ddp gene; mutation; family; expression (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
| - Journal of Clinical Immunology
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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...vavai/riv/projekt
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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
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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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