Počet záznamov: 1
Triple X syndrome plus translocation between Xp and 6p associated with X-linked hypophosphatemic rickets: identification of breakpoint within the PHEX-gene
SYS r000443 LBL ^^^^^naa^^22^^^^^^^^450^ 005 20200205065558.0 100 $a 20000517a2000 m y0sloc0103 ba 101 0-
$a eng $d eng 102 $a SK 200 1-
$a Triple X syndrome plus translocation between Xp and 6p associated with X-linked hypophosphatemic rickets: identification of breakpoint within the PHEX-gene $f S. Riedl, E. Schober, H. Frisch 300 $a Abstrakta zo 6.Stredoeurópskej konferencie pediatrických endokrinológov 300 $a The 6th Middle European Workshop of Paediatric Endocrinology /MEWPE 1999/, 300 $a Emmersdorf, Austria, November 19-21, 1999 463 -1
$1 001 sllk_un_cat*sg000136_2000_000_001 $1 011 $a 1210-0668 $a 1336-0329 $1 200 1 $a Endocrine regulations $v Roč. 34, č. 1 (2000), s. 49-50 541 1-
$a XXX syndróm plus translokácia medzi Xp a 6p združená s X-viazanou hypofosfatemickou krivicou: identifikácia miesta zlomu v PHEX-géne 606 0-
$3 sllk_un_auth*d053098 $a rachitída hypofosfatemická familiárna $x genetika $2 mesh 606 0-
$a trizómia $2 mesh $3 sllk_un_auth*d014314 606 0-
$a translokácia genetická $2 mesh $3 sllk_un_auth*d014178 610 2-
$a gén PHEX 675 $a 616.71-008:575.224:061.3 $v 1. stred. $z slo 700 -1
$3 sllk_un_auth*p0067952 $a Riedl $b Stefan $4 070 701 -1
$a Schober $b E. $3 sllk_un_auth*p0050932 $4 070 701 -1
$a Frisch $b H. $3 sllk_un_auth*p0051197 $4 070 711 12
$3 sllk_un_auth*k0010148 $a Middle European Workshop of Paediatric Endocrinologists $d 6. $e Emmersdorf, Rakúsko $f 1999 801 -0
$a SK $b BA006 $c 20000517 $g AACR2
Počet záznamov: 1