About: Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes

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About: Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes 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	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	We aimed to determine the prevalence, genetics, and clinical phenotype of FOXP3 mutations in a large cohort with permanent neonatal diabetes (PNDM). We aimed to determine the prevalence, genetics, and clinical phenotype of FOXP3 mutations in a large cohort with permanent neonatal diabetes (PNDM). (en)
Title	Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes (en)
skos:prefLabel	Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes (en)
skos:notation	RIV/00216208:11130/09:4226!RIV10-MZ0-11130___
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM0021620819), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Šumník, Zdeněk
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	307294
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/09:4226
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	x-linked syndrome; regulatory t-cells; immune dysregulation; syndrome ipex; swiss-model; polyendocrinopathy; enteropathy; mellitus; protein; immunodysregulation (en)
http://linked.open.../riv/klicoveSlovo	mellitus protein regulatory t-cells enteropathy immune dysregulation immunodysregulation polyendocrinopathy swiss-model syndrome ipex x-linked syndrome
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[FCD0045179A8]
http://linked.open...i/riv/nazevZdroje	Diabetes Care
http://linked.open...in/vavai/riv/obor	FB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	12 (xsd:int)
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	32
http://linked.open...iv/tvurceVysledku	Šumník, Zdeněk Ellard, Sian Rubio-Cabezas, Oscar Caswell, Richard Cayssials, Amely Deiss, Dorothee Hattersley, Andrew T Herr, Mathias Lewis, Vaughan Loew, Anja Minton, Jayne A. L Shield, Julian P
http://linked.open...ain/vavai/riv/wos	000262188000023
http://linked.open...n/vavai/riv/zamer	Náhrada a podpora funkce některých životně důležitých orgánů Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	0149-5992
number of pages	6 (xsd:int)
http://localhost/t...ganizacniJednotka	11130

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