Počet záznamov: 1
A case of Rett syndrome from Ukraine - Clinical diagnosis confirmed by mutation analysis of the MECP2 gene
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$a A case of Rett syndrome from Ukraine - Clinical diagnosis confirmed by mutation analysis of the MECP2 gene $f V. Bzdúch ... [et al.] 305 $a Plný text prednášky na s. 303-309 tohoto čísla periodika 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. 320 $1 210 $a Bratislava $c Slovak Academic Press 541 1-
$a Popis prípadu Rettovho syndrómu z Ukrajiny - klinická diagnóza potvrdená mutačnou analýzou génu MECP2 606 1-
$a Rettov syndróm $x komplikácie $x diagnostika $x genetika $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-
$3 sllk_un_auth*d018899 $a CpG ostrovy $9 . $2 mesh 606 2-
$a incidencia $2 mesh $3 sllk_un_auth*d015994 $9 . 606 2-
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$a analýza sekvenčná $x metódy $2 mesh $3 sllk_un_auth*d017421 $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*d016416 $a abstrakt z kongresu $2 mesh 675 $a (616.831-007+616-009):575.113(477):061.3 $v 2. $z slo 701 -1
$a Bzdúch $b Vladimír $3 sllk_un_auth*p0052591 $4 070 $p I. detská klinika DFN a LFUK, Oddelenie klinickej biochémie DFN, Bratislava 701 -1
$3 sllk_un_auth*p0035409 $a Záhoráková $b Daniela $p Department of Pediatrics and Centre for Integrated Genomics, 1st Faculty of medicine, Charles university, Prague $4 070 701 -1
$a Grechanina $b E.Y. $3 sllk_un_auth*p0037726 $4 070 $p Department of Medical Genetics, Kharkiv State Medical University, Kharkiv, Ukraine 701 -1
$a Zdibskaja $b E.P. $3 sllk_un_auth*p0037705 $4 070 $p Department of Medical Genetics, Kharkiv State Medical University, Kharkiv, Ukraine 701 -1
$a Goldfarb $b I.G. $3 sllk_un_auth*p0037707 $4 070 $p Department of Medical Genetics, Kharkiv State Medical University, Kharkiv, Ukraine 701 -1
$3 sllk_un_auth*0017046 $a Zeman $b Jiří $f 1950- $p Department of Pediatrics and Centre for Integrated Genomics, 1st Faculty of medicine, Charles university, Prague $4 070 701 -1
$3 sllk_un_auth*p0018276 $a Martásek $b Pavel $f 1952- $p Department of Pediatrics and Centre for Integrated Genomics, 1st Faculty of medicine, Charles university, Prague $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
Počet záznamov: 1