Keywords: Družinska centralna prezgodnja puberteta, sekvenciranje po Sangerju, MS-MLPA, MKRN3, nova kandidatna spremembaFull text (file, 1,71 MB)
Keywords: Nepojasnjena nizka rast, sekvenciranje po Sangerju, MLPA, gen SHOX.Full text (file, 3,98 MB)
Keywords: nevrofibromatoza tipa 1, MLPA, gen NF1, CNVkitFull text (file, 2,98 MB)
Keywords: izguba sluha, genetika, gen STRC, MLPAFull text (file, 2,20 MB)
Keywords: idiopathic short stature, Sanger sequencing, children and young adults, height, short stature, SHOX, MLPAFull text (file, 237,65 KB) This document has more files! More...
Keywords: hipogonadotropni hipogonadizem, Kallmannov sindrom, MLPA, gen ANOS1, nova genetska spremembaFull text (file, 1,28 MB)