• Je něco špatně v tomto záznamu ?

Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

M. Skorvanek, P. Dusek, M. Rydzanicz, A. Walczak, J. Kosinska, G. Kostrzewa, M. Brzozowska, V. Han, P. Dosekova, Z. Gdovinova, Z. Lehotska, P. Lisowski, R. Ploski,

. 2019 ; 62 (-) : 239-241. [pub] 20190124

Jazyk angličtina Země Velká Británie

Typ dokumentu kazuistiky, dopisy, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc20022764

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc20022764
003      
CZ-PrNML
005      
20201214124753.0
007      
ta
008      
201125s2019 xxk f 000 0|eng||
009      
AR
024    7_
$a 10.1016/j.parkreldis.2019.01.017 $2 doi
035    __
$a (PubMed)30733140
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxk
100    1_
$a Skorvanek, Matej $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic. Electronic address: matej.skorvanek@upjs.sk.
245    10
$a Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype? / $c M. Skorvanek, P. Dusek, M. Rydzanicz, A. Walczak, J. Kosinska, G. Kostrzewa, M. Brzozowska, V. Han, P. Dosekova, Z. Gdovinova, Z. Lehotska, P. Lisowski, R. Ploski,
650    _2
$a dospělí $7 D000328
650    _2
$a transportní proteiny $x genetika $7 D002352
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a lidé $7 D006801
650    _2
$a mutace $x genetika $7 D009154
650    _2
$a neurovývojové poruchy $x diagnostické zobrazování $x genetika $7 D065886
650    _2
$a jaderné proteiny $x genetika $7 D009687
650    12
$a fenotyp $7 D010641
655    _2
$a kazuistiky $7 D002363
655    _2
$a dopisy $7 D016422
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a Dusek, Petr $u Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.
700    1_
$a Rydzanicz, Malgorzata $u Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
700    1_
$a Walczak, Anna $u Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
700    1_
$a Kosinska, Joanna $u Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
700    1_
$a Kostrzewa, Grazyna $u Department of Forensic Medicine, Medical University of Warsaw, Warsaw, Poland.
700    1_
$a Brzozowska, Malgorzata $u Department of Forensic Medicine, Medical University of Warsaw, Warsaw, Poland.
700    1_
$a Han, Vladimir $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
700    1_
$a Dosekova, Petra $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovak Republic.
700    1_
$a Gdovinova, Zuzana $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
700    1_
$a Lehotska, Zdenka $u Department of Radiology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
700    1_
$a Lisowski, Pawel $u Institute of Genetics and Animal Breeding, Polish Academy of Sciences, Jastrzebiec, Magdalenka, Poland; Max Delbrück Center for Molecular Medicine (MDC) in the Helmholtz Association, Berlin, Germany. Electronic address: lisowski884@gmail.com.
700    1_
$a Ploski, Rafal $u Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. Electronic address: rploski@wp.pl.
773    0_
$w MED00006198 $t Parkinsonism & related disorders $x 1873-5126 $g Roč. 62, č. - (2019), s. 239-241
856    41
$u https://pubmed.ncbi.nlm.nih.gov/30733140 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20201125 $b ABA008
991    __
$a 20201214124754 $b ABA008
999    __
$a ok $b bmc $g 1595083 $s 1113440
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2019 $b 62 $c - $d 239-241 $e 20190124 $i 1873-5126 $m Parkinsonism & related disorders $n Parkinsonism Relat Disord $x MED00006198
LZP    __
$a Pubmed-20201125

Najít záznam

Citační ukazatele

Nahrávání dat ...

Možnosti archivace

Nahrávání dat ...