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2009 Vienna - European Society of Human Genetics

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Keyword Index<br />

Sardinia: C09.6<br />

Sardinian: C10.4<br />

Saudi Arabia: P10.47, P10.73<br />

Saudi: P16.06<br />

SC phocomelia/Roberts Syndrome:<br />

P02.102<br />

SCA 10: P02.011<br />

SCA: P12.145<br />

SCA15/16: P12.146<br />

SCA15: P12.145<br />

SCA2: P10.74<br />

SCA6 mutation: P12.030<br />

scalp defects: C16.3<br />

SCARB2: P08.07<br />

SCD-EDS: C04.1<br />

Schinzel-Giedion: P02.103<br />

Schizophrenia brain: P03.006<br />

Schizophrenia: C05.5, C17.2, P02.104,<br />

P03.050, P09.002, P09.030, P09.072,<br />

P09.112, P09.113, P09.128<br />

SCID: P02.082<br />

SCN1A: P17.63, P17.65, P17.67, P17.71<br />

SCN1B: P17.68<br />

SCN5A GENE: P16.20<br />

Scoring system: P05.48<br />

screening method: P06.079<br />

SCREENING METHODS: P02.117<br />

screening programs: P08.58<br />

screening: C18.3, P01.46, P06.110,<br />

P11.060<br />

SDHB: P06.038<br />

SDHD: P06.038, P06.085<br />

second-generation sequencing: C06.5<br />

SEDL: P02.166<br />

SEDT-PA: P02.105<br />

Segawa syndrome: P14.18<br />

Segmentation defects <strong>of</strong> the vertebrae:<br />

P02.161<br />

seizures: P02.188<br />

selection: P10.55<br />

semen analysis: P03.037<br />

semidominant inheritance: P12.055<br />

Semiquantitative multiplex PCR assay:<br />

P11.108<br />

senescence: S14.1<br />

Sensory-Motor Neuropathy: P10.37<br />

Sepsis: P09.061<br />

sequence specific primer: P03.028<br />

sequence variability: P10.72<br />

sequence variation nomenclature: P11.080<br />

sequence: P11.059, P11.060<br />

Sequencing: P02.172, P11.035, P11.109,<br />

P11.110, P11.119, P15.14<br />

SERCA2: P12.087, P12.088<br />

Serotonin transporter gene: P09.114<br />

serotonin transporter: P09.070<br />

serotonin: P09.092<br />

SERPINA1: P11.091<br />

SERPINC1 gene: P02.114<br />

SERT gene: P09.019<br />

serum triglycerides: P10.06<br />

serum: P06.057<br />

severe oligozoospermia: P03.193<br />

sex determination: P02.143, P04.33,<br />

P05.09<br />

sex ratio: P02.106<br />

sex reversal: P05.42<br />

sexreversal: P03.051, P03.202<br />

SGCD: P14.12<br />

SH2D1A: P12.169<br />

SH3BP2 gene: P02.018<br />

SHANK3: C16.5<br />

shared genetic susceptibility locus: C10.5<br />

SHFM3: P05.34<br />

SHH: P12.147<br />

short RNA: P11.072<br />

short stature: P07.06<br />

short tandem repeats: P10.75, P10.76<br />

SHOX gene: P02.107<br />

SHOX2: C11.2<br />

Siberian populations: P10.72<br />

sickle cell disease: P11.094<br />

sickle cell gene: P10.73<br />

Silent mutation: P08.21<br />

Silver-Russell syndrome: C08.5, P02.108<br />

SILVER-RUSSELL: P02.030<br />

Simpson-Golabi-Behmel: P03.079<br />

sindrome: P03.137<br />

single cell: C01.1, P11.070<br />

single gene disorder: P05.27<br />

Single median maxillary central incisor:<br />

P03.029<br />

single nucleotide polymorphism (SNP):<br />

P08.26, P11.111<br />

single nucleotide polymorphism: P06.054,<br />

P06.202, P08.12, P08.63, P09.069,<br />

P09.070<br />

single nucleotide polymorphisms: C06.4,<br />

P08.59, P09.039, P09.081, P17.12<br />

siRNA: P06.175, P11.029, P11.092<br />

Situs inversus totalis: P02.079<br />

situs inversus: P03.138<br />

skeletal dysplasia: P02.162<br />

Skeletal malformations: P02.024<br />

skewed X-inactivation: P04.29<br />

skin cancer: P06.086<br />

skull defect: P03.179<br />

SLC29A3: PL2.3<br />

SLC2A1: P13.21<br />

SLC39A13: C04.1<br />

SLC40A1: P14.19<br />

SLC6A8: P02.201<br />

SLC7A7: P12.105, P12.106<br />

SLE: P09.119<br />

Slug: P06.087<br />

SMA: P12.148, P12.149<br />

small RNAs: C01.4<br />

SMC1A gene: P12.048<br />

Smith-Lemli-Opitz syndrome: P02.163<br />

Smith-Magenis Syndrome: C02.1<br />

SMN gene: P12.150<br />

SMN1: P10.78, P12.149<br />

SMN2: P10.78, P14.20<br />

smoking: P02.020<br />

SMPD1: P12.121<br />

SMRT array: P12.151<br />

SMS1: P11.044<br />

Snapback primers: P11.004<br />

SNP array: P03.011, P12.152<br />

SNP arrays: P02.068<br />

snp microarrays: P08.55<br />

SNP polymorphism: P06.089<br />

SNP typing: P11.070<br />

SNP: P02.177, P05.15, P06.031, P06.037,<br />

P08.24, P09.115, P10.31, P11.019,<br />

P11.055, P11.083, P13.03<br />

SNPlotype: P09.121<br />

SNPs array: P03.102<br />

SNPs: P08.04, P09.126<br />

sociobiology: PL3.2<br />

sodium channel gene: P17.69<br />

sodium pertechnetate: P03.041<br />

s<strong>of</strong>tware: P11.123<br />

SOLiD sequencing systems: P11.084<br />

solid tumor: P06.174<br />

solid tumors: P07.10<br />

SOLiD: P06.027, P11.112, P11.113,<br />

P11.117, P11.119<br />

somatic K-ras protooncogene mutation:<br />

P06.208<br />

somatic mosaicism: P03.108<br />

somatic mutation: P12.043<br />

sonic hedgehog: P11.096, S15.3<br />

SOS1: P02.142, P13.27<br />

SOX14: P11.114<br />

Sp1 polymorphism: P09.034<br />

spectrum <strong>of</strong> CF mutations: P02.121<br />

spectrum <strong>of</strong> disease genes: C13.5<br />

sperm aneuploidy: P03.052<br />

spermatogenesis: P03.198<br />

spermine synthase (SMS) gene: P02.196<br />

spermiogenesis: C07.3<br />

SPG11: P12.085, P12.153<br />

SPG4 gene: P12.083<br />

SPG4 mutations: P12.154<br />

SPG42: P12.084<br />

Spinal dysostoses: P02.164<br />

spinal muscular athrophy: P12.155

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