Number of the records: 1
A novel HNF4A mutation c. 427-1G A causing congenital hyperinsulinism and glycogenosis - like phenotype
SYS 251986 LBL 00000naa--2200000---450- 005 20220505124626.9 100 $a 20180124d m y slo-03 ----ba 101 $a eng 102 $a NL 200 1-
$a A novel HNF4A mutation c. 427-1G A causing congenital hyperinsulinism and glycogenosis - like phenotype $f Juraj Stanik, Martina Skopkova, Katarina Brennerova, Daniel Danis, Monika Rosolankova, Anna Salingova, Vladimir Bzduch, Iwar Klimes, and Daniela Gasperikova 463 -1
$1 001 sav_un_epca*251977 $1 200 1 $a Genetics of diabetes and its role in precision medicine $e 6th EASD - SGGD meeting $v P. 120 $1 210 $a Leiden $c Leiden University Medical Center $d 2017 $1 712 12 $3 sav_un_auth*0206174 $a EASD - SGGD meeting $b Genetics of diabetes and its role in precision medicine $d 6th $e Leiden, The Netherlands $f 11-13 May 2017 $h Leiden University Medical Center $4 070 700 -1
$3 sav_un_auth*0155464 $a Staník $b Juraj $p SAVBIOMED $4 070 $p SAVEXEND $x Z $T Biomedicínske centrum SAV $Y SAVBIOMED $Y SAVBIOMED $Y SAVEXEND 701 -1
$3 sav_un_auth*0160934 $a Škopková $b Martina $p SAVBIOMED $4 070 $p SAVEXEND $x Z $T Biomedicínske centrum SAV $Y SAVBIOMED $Y SAVBIOMED $Y SAVEXEND 701 -1
$3 sav_un_auth*0194146 $a Brennerová $b Katarína $4 070 701 -1
$3 sav_un_auth*0194149 $a Daniš $b Daniel $f 1989 $4 070 $p SAVBIOMED $p SAVEXEND $x Z $T Biomedicínske centrum SAV $Y SAVBIOMED $Y SAVBIOMED $Y SAVEXEND 701 -1
$3 sav_un_auth*0166246 $a Rosoľanková $b Monika $4 070 701 -1
$3 sav_un_auth*0204508 $a Salingova $b Anna $4 070 701 -1
$3 sav_un_auth*0206182 $a Bzduch $b Vladimir $4 070 701 -1
$3 sav_un_auth*0148179 $a Klimeš $b Iwar $4 070 $p SAVBIOMED $p SAVEXEND $x Z $T Biomedicínske centrum SAV $Y SAVBIOMED $Y SAVBIOMED $Y SAVEXEND 701 -1
$3 sav_un_auth*0155047 $a Gašperíková $b Daniela $p SAVBIOMED $4 070 $p SAVEXEND $x Z $T Biomedicínske centrum SAV $Y SAVBIOMED $Y SAVBIOMED $Y SAVEXEND 712 12
$3 sav_un_auth*0204506 $a APVV-0107-12 $b Molekulárno-genetický výskum s farmakogenetickými konsekvenciami u detí s hyperinzulinemickými hypoglykémiami $e BMC-ÚEE $f 2013-2017 $4 070 $h Zodpovedný riešiteľ: MUDr. Juraj Staník, PhD. / RNDr. Daniela Gašparíková, DrSc. 801 -0
$a SK $b SAV $c 20180124 $g AACR2
Number of the records: 1