Number of the records: 1
A case of Rett syndrome from Ukraine - clinical diagnosis confirmed by mutation analysis of the MECP2 gene
SYS r028998 LBL ^^^^^naa^^22^^^^^^^^450^ 005 20150128092326.6 100 $a 20041001a2004 m y0sloc0103 ba 101 0-
$a eng $d eng 102 $a SK 200 1-
$a A case of Rett syndrome from Ukraine - clinical diagnosis confirmed by mutation analysis of the MECP2 gene $f V. Bzdúch ... [et al.] 215 $c Obr., sch., tab. 320 $a Res. angl. 320 $a Bibliogr. odkazy 463 -1
$1 001 sllk_un_cat*sg000135_2004_004_009 $1 011 $a 0006-9248 $1 200 1 $a Bratislavské lekárske listy $d Bratislava medical journal $e international journal for biomedical sciences and clinical medicine $v Vol. 105, no. 9 (2004), s. 299-302 $1 210 $a Bratislava $c Slovak Academic Press 541 1-
$a Prípad Rettovho syndrómu z Ukrajiny - klinická diagnóza potvrdená mutančnou analýzou MECP2 génu 606 1-
$a Rettov syndróm $x komplikácie $x diagnostika $2 mesh $3 sllk_un_auth*d015518 $9 . 606 1-
$a analýza DNA, mutačná $x metódy $2 mesh $3 sllk_un_auth*d004252 $9 . 606 1-
$a zmena génového usporiadania $2 mesh $3 sllk_un_auth*d015321 $9 . 606 2-
$3 sllk_un_auth*d018899 $a CpG ostrovy $x genetika $x imunológia $9 . $2 mesh 606 2-
$3 sllk_un_auth*d008607 $a postihnutie intelektuálne $x diagnostika $x genetika $9 . $2 mesh 606 2-
$a diagnostika prenatálna $x metódy $2 mesh $3 sllk_un_auth*d011296 $9 . 606 2-
$a u ženského pohlavia $2 mesh $3 sllk_un_auth*d005260 $9 . 607 $a Ukrajina $2 mesh $3 sllk_un_auth*d014455 608 $3 sllk_un_auth*d002363 $a kazuistiky $2 mesh 608 $3 sllk_un_auth*d016423 $a kongres $2 mesh 675 $a 616-008.9:575.113:061.3(477) $v 2. $z slo 701 -1
$a Bzdúch $b Vladimír $3 sllk_un_auth*p0052591 $4 070 $p First Department of Pediatrics, Comenius University Children's Hospital, Bratislava, Slovakia 701 -1
$3 sllk_un_auth*p0035409 $a Záhoráková $b Daniela $p First Department of Pediatrics, Comenius University Children's Hospital, Bratislava, Slovakia $4 070 701 -1
$a Grechanina $b E. $3 sllk_un_auth*p0037704 $4 070 $p First Department of Pediatrics, Comenius University Children's Hospital, Bratislava, Slovakia 701 -1
$a Zdibskaja $b E.P. $3 sllk_un_auth*p0037705 $4 070 $p First Department of Pediatrics, Comenius University Children's Hospital, Bratislava, Slovakia 701 -1
$a Goldfarb $b I.G. $3 sllk_un_auth*p0037707 $4 070 $p First Department of Pediatrics, Comenius University Children's Hospital, Bratislava, Slovakia 701 -1
$3 sllk_un_auth*0017046 $a Zeman $b Jiří $f 1950- $p First Department of Pediatrics, Comenius University Children's Hospital, Bratislava, Slovakia $4 070 701 -1
$3 sllk_un_auth*p0018276 $a Martásek $b Pavel $f 1952- $p First Department of Pediatrics, Comenius University Children's Hospital, Bratislava, Slovakia $4 070 711 12
$3 sllk_un_auth*k0002613 $a Ázijsko-európsky kongres o dedičných metabolických poruchách $b AEWIEM $d 9. $e Stará Lesná, Slovensko $f 2004 801 -0
$a SK $b BA006 $c 20041001 $g AACR2
Number of the records: 1