2009 Vienna - European Society of Human Genetics

Keyword Index 0
qRT-PCR: P11.043, P13.36
QT Interval: C13.6
QT-PCR: P05.53
quadrupedal locomotion: C03.3
Quaking: P03.164
quality assurance: P15.10
Quality management: P15.11, P15.12,
P15.13
Quality: P15.09
quantitation: P11.022
Quantitative covariates: P08.02
Quantitative real-time PCR: P10.77
quantitative trait: P08.13
Quantitative traits: C17.3
Quatitative Real-Time PCR: P05.62
quercetin: P06.077
R
Rad50: P06.040, P09.054
radial aplasia: P02.167
radiosensitivity: P03.014
RANTES: P10.20
Rap80: P06.080
rapamycin: P14.22
rapid and prenatal diagnosis: P05.62
rapid eye movement sleep behaviour
disorder (RBD): P09.106
Rapid-onset dystonia parkinsonism:
P17.62
rare diseases: P01.44
rare disorder: P02.160
rare mutation: P10.05
Rare: P01.19
RAS/MAPK pathway: P02.141
RAS/MAPK Syndromes: P02.147
RAS: P02.144
RAS-MAPK: P02.134
RB pathway: P06.082
RB1 gene: P07.09
RDS in neonate: P05.31
RDS: P05.30
Reactive oxygen species: P03.194
Real Time PCR: P11.098, P15.07
real-time PCR array: P06.077
real-time pcr: P11.010
rearrangement: P06.121, P11.108,
P12.137
rearrangements: P06.092
recessive ataxia: C03.4, P08.55
Recessive OI: C08.2
reciprocal translocation: C16.4, P01.20,
P03.048, P03.132
recombination: P03.049
recurrence risk: P06.014
recurrent abortions: P03.027
recurrent miscarriage: P04.24, P09.107
recurrent pregnancy loss: C07.1
recurrent spontaneous abortions: P04.25
Redox state: P14.03
reference materials: P11.101
reference sequence: P11.102
Regulation: P05.51
regulations & ethics: P01.24
regulatory variation: P12.035
rehabilitation: P14.04, P14.07, P14.23
Relapse: C06.6
Relative Risks: P09.033
RELN: P09.048
renal cancer: P06.081
renal cell carcinoma: P06.082
Renal hereditary tubulopathies: P12.138
renal transplant: P08.56
renal: P02.085
renin-angiotensin system: P09.108
reno-urinary anomaly: P02.019
Repeated misacarriages: P10.12
Repeated pregnancy loss: P04.26
reporter gene assay: P11.103
reporter gene: P11.061
reproduction: P04.27
researcher identification: P11.104
Resequencing: C01.6, P02.194
Resorption: P02.099
respiratory chain complex: P12.112
respiratory diseases: P13.35
Restrictive Dermatopathy: P02.100
restrictive dermopathy: P02.101
RET protooncogene mutations: P06.061
RET: P06.056, P06.083, P10.38, S08.1
RET9: P09.052
retardation and dysmorphisms: P03.105
retinal detachment: P02.059
retinal disorders: P12.022
retinal dystrophies: P12.003
Retinal dystrophy: P12.139
retinitis pigmentosa type 2: P12.142
Retinitis Pigmentosa: P12.140, P12.141,
P12.143
Retinoblastoma: P06.084
retinoic acid: P06.173
retinopathy: C03.6, P02.080
retroelements: P11.105
Rett syndrome: P02.185, P02.187,
P02.188, P02.190, P02.191, P02.193,
P11.106
reversion: P06.160
revision process: P01.22
RFLP: P12.150
rhabdomysaroma: P02.149
rheumatoid Arthritis: P08.25, P08.57,
P09.109, P15.01
Rheumotoid Artritis: P08.44
Rhizomelic chondrodysplasia punctata type
3: P02.160
RHODOPSIN: P12.143
Rhombencephalosynapsis: P01.45
rib chondro-sarcoma: P06.052
Rieger: P03.133
ring 13: P03.108
Ring 18: P03.112
ring chromosome 3: P03.134
Ring Chromosome 7: P03.135
ring chromosome 9: P03.136
ring chromosome: P05.32
risk calculation: P05.25
risk factor: P17.41
risk model: C09.1
risk: P10.49
RLS: P09.110
RNA decay: C01.2
RNAi: P06.065
RNAseq: C06.5
RNA-seq: P11.023
Robertsonian translocation: P03.060,
P03.147
Robinow syndrome: P05.33
ROC curves: P17.12
ROC: C05.1
role: P06.197
Roleplay: P01.11
Romanian population: P10.16, P10.71
Romany: P12.104
ROR2: P05.33
Rostov region: P02.130, P10.37
RPE65 gene: P12.103
RPL: P04.28
RPS19: P11.033, P12.054
RPS24: P11.033
rs10505477: P06.002
RT PCR: P08.25
rubinstein taybi syndrome: P02.150
Rubinstein Taybi: P02.149
RUNX1: P03.078
RUNX2: P10.72, P12.037
Russell-Silver syndrome: P03.150
Russian Federation: P10.81
Ryanodine receptor gene: P16.47
ryanodine receptor type 1: P12.047
ryanodine receptors: P12.144
s
sads: S03.4
Sanfilippo C syndrome: P13.41
São Tomé and Príncipe: P10.40
sarcoglycan: P16.30
sarcoidosis: P09.111
sarcomere gene mutations: C13.4
sarcomeric gene: P16.23