Humangenetik Spektrum
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RAF1........................................... 172, 213<br />
RAG1....................................................257<br />
RAG2....................................................257<br />
RAI1.....................................................261<br />
Renales-Kolobom-Syndrom....................248<br />
RET..................................... 200, 207, 226<br />
Retinoschisis, juvenile, X-chromosomal...249<br />
Rett-Syndrom........................................249<br />
kongenitales.................................250<br />
RIT1.....................................................213<br />
RNASEH2A...........................................270<br />
RNASEH2B...........................................270<br />
RNASEH2C...........................................270<br />
Roberts-Syndrom..................................251<br />
Romano-Ward-Syndrom........................251<br />
RRM2B...................................................91<br />
RS1......................................................249<br />
RYR2....................................................163<br />
S<br />
Saccharase-Isomaltase-Defizienz,<br />
kongenitale......................................252<br />
Saethre-Chotzen-Syndrom.....................254<br />
SALL1..................................................278<br />
SAMHD1...............................................270<br />
SANDO-Syndrom...................................254<br />
SAR1B....................................................80<br />
SBDS....................................................258<br />
SBMA...................................................209<br />
SCA1....................................................263<br />
SCA2....................................................264<br />
SCA3....................................................265<br />
SCA6....................................................266<br />
SCA7....................................................266<br />
SCA17..................................................267<br />
Schilddrüsenhormon-Resistenz..............255<br />
Schwerhörigkeit<br />
erbliche nicht-syndromale..............255<br />
X-gekoppelt..................................256<br />
SCID.....................................................257<br />
SCN1A...................................................96<br />
SCN1A-assoziierte Erkrankungen.............96<br />
SCN5A.................................... 64, 95, 251<br />
SCNN1A...............................................246<br />
SCNN1B...................................... 245, 246<br />
SCNN1G...................................... 245, 246<br />
SDHA...................................................226<br />
SDHAF2................................................226<br />
SDHB............................................ 81, 226<br />
SDHC...................................................226<br />
SDHD............................................ 81, 226<br />
SERPINA1...............................................45<br />
SERPINA7.............................................276<br />
SERPINA10...........................................243<br />
SERPINC1...............................................51<br />
SERPING1...............................................51<br />
SGCA...................................................120<br />
SGCB...................................................120<br />
SGCD...................................................120<br />
SGCE....................................................211<br />
SGCG...................................................120<br />
SGLT1-Defekt........................................122<br />
SGLT2-Defekt........................................123<br />
SGSH....................................................205<br />
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