2009 Vienna - European Society of Human Genetics
2009 Vienna - European Society of Human Genetics
2009 Vienna - European Society of Human Genetics
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Keyword Index<br />
DMD: P16.40, P16.41, P16.42, P16.44<br />
DNA damage: P04.03<br />
DNA methylation: P03.054, S13.1<br />
DNA microarray: P08.52<br />
DNA microarrays: P09.041<br />
DNA pooling: P11.123<br />
DNA repair genes: P06.202, P10.18<br />
DNA repair: P06.143<br />
DNA resequencing array: P16.25<br />
DNA sequencing: C13.4, P11.034<br />
DNA-diagnostics: P12.034<br />
DNAI1: C12.6<br />
Docetaxel: P06.073<br />
Dopamin receptor genes: P08.25<br />
dopamine D2 receptor: P09.051<br />
dopamine receptor gene: P10.19<br />
dopamine receptor: P02.076<br />
dopamine: P17.66<br />
double aneuploidy: P03.124<br />
Double heterozygote: P06.032<br />
double ring chromosome 4: P03.107<br />
double translocation: P03.125<br />
Down critical region: P03.021<br />
Down Syndrome: P01.07, P02.106,<br />
P03.018, P03.019, P03.020, P03.021,<br />
P03.148, P06.005<br />
Down’s syndrome screening: P05.25<br />
DQ2, DQ8: P12.029<br />
DQA1 and DQB1: P04.25<br />
drift: P08.19<br />
drug addiction: P08.26<br />
Duchenne/Becker muscular dystrophy:<br />
P16.43<br />
duplication 11p11.2: P03.131<br />
Duplication 16p13.3: P02.148<br />
duplication 3p25.3: P03.083<br />
duplication 9p: P03.136<br />
Duplication Xp22.12: P02.196<br />
duplication: P02.179<br />
dynamin 2: P16.38<br />
dynein arms: P12.036<br />
dyskeratosis congenita: P02.034<br />
Dyskinesia, PED: P13.21<br />
dyskinesia: P17.54<br />
Dyslipidemia: P17.48<br />
dysmorphic face: P02.051<br />
dysmorphic featureas: P03.116<br />
dysmorphism: P03.114<br />
Dysmorphology: P01.08, P01.09, P01.10,<br />
P02.069, P03.113<br />
dystonia: P02.202<br />
dystroglycanopathies: C14.2<br />
Dystrophic epidermolysis bullosa: P12.055<br />
dystrophinopathy: P16.44<br />
DYT12: P17.62<br />
E<br />
E2 protein: P11.058<br />
early development <strong>of</strong> liver failure: P12.008<br />
Early Infantile Epileptic Encephalopathy:<br />
P12.124<br />
early onset hearing loss: P02.035<br />
Early-diagnosis: P06.104<br />
East Asia: P01.06<br />
east azerbaijan population: P10.75<br />
E-cadherin mutation: P06.045<br />
economic analysis: P06.124<br />
Ecotilling: P10.05<br />
ectodermal dysplasia: P02.169<br />
EDARADD: P12.017<br />
Education: C18.5, P01.09, P01.11, P01.12,<br />
P01.25, P01.43<br />
Effects on chromosomes: P03.043<br />
Efferocytosis: P08.17<br />
efficacy <strong>of</strong> omeprazole: P08.23<br />
EFNB1: C04.6, P02.168<br />
Ehlers-Danlos syndrome: P12.039<br />
ELA2: P12.045<br />
elastin: P03.184<br />
electrophoresis: P08.65<br />
Ellis van Creveld: P02.169<br />
ELN: P03.182<br />
Emanuel syndrome: C16.1, P03.178<br />
embryo development: P04.32<br />
embryonic pattern formation: S15.3<br />
Embryos: P05.45, S09.1<br />
EMMA: P12.157<br />
emotional regulation: C18.1<br />
EMT: P06.087<br />
ENAC: P12.027<br />
end stage renal disease: P08.01<br />
Endometrial cancer: P06.152<br />
endometriosis: P04.04, P10.20, P12.118<br />
endometrium: P06.206<br />
Endothelial function: P14.03<br />
Endothelial Nitric Oxide Synthase: P10.21<br />
endurance: P09.044<br />
eNOS G894T: P17.19<br />
eNOS gene: P16.31<br />
eNOS: P10.01, P10.22<br />
ENPP1: P08.27<br />
enrichment: P11.035, P11.086, PL2.2<br />
Enzyme replacement therapy: P13.38,<br />
P14.08, P14.13<br />
enzyme-free: P14.05<br />
EPCAM: P06.145<br />
Eph receptor tyrosine kinase: P12.020<br />
EPHA2: P12.020<br />
epidemiological study: P02.045<br />
epidemiology: P10.25, P10.67, P16.35<br />
Epidermodysplasia verruciformis: P12.056<br />
epidermolysis bullosa: C12.5, P02.036<br />
epigenetic silencing: P06.084<br />
epigenetic: C12.1, P01.39, P06.128<br />
epigenetics: P11.068, S02.1<br />
epilepsy: C02.2, P02.183, P03.083,<br />
P03.094, P03.107, P03.126, P17.63,<br />
P17.65, P17.66, P17.67, P17.68<br />
Epileptic encephalopathy: P02.189<br />
epimutation: C08.5<br />
epistasis: C05.3<br />
EPM1-Unverricht-Lundborg disease (ULD):<br />
P17.64<br />
EQA: P15.12<br />
eQTLs: S12.2<br />
ERCC2 gene: P06.129<br />
eRF3 – 12 GGC allele: P06.137<br />
ERT: C12.4<br />
esophageal atresia: P02.037<br />
esophageal cancer: P06.006<br />
esophageal reflux: P03.138<br />
ESRD: P09.076<br />
essential hypertension: P05.19<br />
estrogen receptor alpha: P06.139<br />
Estrogen Receptor beta: P06.179<br />
ethics: P01.13, P01.14, P05.46<br />
Ethnic groups <strong>of</strong> Siberian region: P10.28<br />
ethnic groups: P10.14<br />
Etiology: P02.070<br />
ETV6: P06.168<br />
eugenics: P01.15<br />
Eurogentest: P15.12<br />
EVC: P02.169<br />
EVI1: P06.173<br />
Evidence-based: P01.10<br />
evolution: P01.12, P11.079, PL3.2<br />
Ewing’s carcoma: P06.033<br />
excessive sweating: P02.016<br />
exonic splicing enhancer: P11.063<br />
exposed soldiers: P03.043<br />
expression level analysis: P17.06<br />
expression: P02.168, P06.133, P11.100<br />
EXT1: P13.26<br />
EXT2: P13.26<br />
external quality assessment scheme:<br />
P15.10<br />
external quality assessment: C02.6<br />
extracellular matrix proteins: P11.036<br />
Extreme nephromegaly: P05.43<br />
Extreme Noth-Eastern Eurasia: P10.60<br />
eye malformations: P03.017<br />
F<br />
Fabry disease: P13.12, P13.13<br />
Fabry: P13.11<br />
facial dysmorphy: P03.115<br />
Facioscapulohumeral dystrophy: P11.037<br />
Facioscapulohumeral muscular dystrophy