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2008 Barcelona - European Society of Human Genetics

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Keyword Index 0<br />

haemoglobinopathies: C09.3, P08.76<br />

Haemophila: P05.062<br />

Haemophilia A: P05.063<br />

haemophilia: P06.123<br />

Hairpin structure: P08.13<br />

Hajdu-Cheney syndrome: P01.134<br />

HAMP: P06.127<br />

Hand Osteoarthritis: P06.124<br />

Hanhart syndrome: P01.135<br />

haplogroup: P07.110<br />

haploinsufficiency: P04.155<br />

haplotype analysis: P06.152<br />

Haplotype and simulation analyses: P06.228<br />

haplotype: P01.007, P01.022, P03.28,<br />

P04.086, P05.019, P06.042, P06.243<br />

haplotypes: P06.058<br />

haptoglobin: P06.214<br />

Hb F Malta I: P01.020<br />

Hb F Sardegna: P01.020<br />

Hb Lepore: P01.019, P01.022<br />

Hb S: P07.016<br />

Hb Torino: P01.021<br />

HbE/βthalassemia: P01.014<br />

HbF inducers: P10.02<br />

HBOC families: P04.031<br />

HBOC: EPL3.3<br />

HCM: P05.064, P05.065, P05.092, P07.065<br />

HD: EP08.1, EP10.16, EP13.4, P09.37<br />

HDL: P06.148<br />

HDL2: P09.37<br />

HDR syndrome: P02.068<br />

health communication: EW1.1<br />

health pr<strong>of</strong>essionals: P09.09<br />

healthcare pr<strong>of</strong>essionals: EP14.05<br />

healthcare system: P09.50<br />

Hearing impairment: C03.2, P06.125<br />

Hearing loss: C03.2, P01.128, P01.279,<br />

P05.055, P05.067, P05.068, P05.069,<br />

P05.072, P05.073, P05.074<br />

hearing: C12.4<br />

hearing-loss: P06.232<br />

Heart defect: P01.174, P02.076<br />

heart defects: P01.136<br />

heart failure: P06.043<br />

heart: P05.033, P08.36<br />

height: C13.1, P06.126, P06.238, P07.060<br />

HEK 293: P04.197<br />

HELLP syndrome: P06.308<br />

Hematologic malignancies: P04.076<br />

hematopeiotic cell: P04.152<br />

hematopoietic stem cells: P10.13<br />

Heme oxigenase 2: P06.031<br />

heme-oxigenase 1: P06.256<br />

Hemochromatosis type IV: P05.076<br />

hemochromatosis: P05.075, P06.127<br />

Hemoglobin: P01.004<br />

Hemoglobinopathy: P01.019, P01.022<br />

hemokinin-1: P05.140<br />

hemophilia A: P05.077, P05.078<br />

Hemophilia B: P05.079<br />

hemophilia: P01.291<br />

Hemostasis: P06.009<br />

Hennekam syndrome: P01.171<br />

hepatic fibrosis: P06.113<br />

Hepatitis C: P02.202<br />

hepatoblastoma: P01.292, P04.153<br />

Hepatocellular carcinoma: P04.206, P10.14<br />

hepcidin: P06.127<br />

HER2/neu and EGFR: P04.171, P04.172<br />

Her-2/neu: P04.162<br />

hereditary angioedema: P05.017<br />

Hereditary breast and ovarian cancer:<br />

EP09.2<br />

Hereditary cystatin C amyloid angiopathy:<br />

C03.5<br />

hereditary deafness: EP14.07<br />

hereditary disorders SCA2, FAP: EP08.7<br />

Hereditary Epidermolysis Bullosa: P05.080<br />

Hereditary hearing loss: P05.081<br />

hereditary hemochromatosis: P07.066,<br />

P07.067<br />

hereditary hemorrhagic telangiectasia:<br />

P01.293<br />

Hereditary Non-Polyposis Colorectal Cancer:<br />

EPL3.1, EPL3.4<br />

Hereditary Proteinuria Syndrome: P05.082<br />

Hereditary spastic paraparesis: P05.083<br />

Hereditary spastic paraplegia: P05.186,<br />

P06.128<br />

Hereditary spastic paraplegias (HSP):<br />

P05.185<br />

hetero-oligomers: P05.138<br />

heteroploidy frequency: P02.224<br />

heteroploidy: P02.229<br />

Heterotopia: P01.239<br />

heterotopic ossification: P05.084<br />

Heterozygosity: P06.178<br />

heterozygous familial hypercholesterolemia:<br />

P06.161<br />

heterozygous: P01.008, P01.241<br />

Hex-A: P01.070<br />

HEXB: P01.068<br />

HFE C282Y: P04.111<br />

HFE gene: P04.049, P07.066<br />

HFE: P06.096<br />

HGPPS: P01.356<br />

HHCS: P05.085<br />

HHT: P01.293, P05.086<br />

HHV-6: P02.011<br />

HIBM: P05.087<br />

-hidroxilase deficiencyα17: P05.030<br />

HIF1A: P06.129<br />

high resolution melting analysis: P08.37<br />

high resolution melting ethylation analysis:<br />

P08.38<br />

high resolution melting point analysis:<br />

P06.221<br />

High resolution melting: P09.70<br />

high-schools: P09.36<br />

high-throughput mutation screening: P06.221<br />

High-throughput-sequencing: C05.1<br />

Histopathological examination <strong>of</strong> the placenta:<br />

P01.327<br />

history: P09.38<br />

HLA: P06.202, P06.294, P07.128, P07.135,<br />

P10.13<br />

HLA-B*51 alelle: P08.06<br />

HNF1a: P05.131<br />

HNPCC: EPL3.4, P04.016, P04.017,<br />

P04.018, P04.022, P04.023, P04.024<br />

HNPP: P01.238<br />

HNRPU gene: P02.090<br />

holoprosencephaly: P01.294<br />

Holt-Oram: P01.136<br />

home sampling: P10.21<br />

Homeobox Gene: P10.24<br />

homocysteine: P06.143<br />

homocystinuria: P01.050, P05.134<br />

homologues recombination: P10.28<br />

Homozygosity mapping: P05.010, P05.144<br />

homozygosity: P07.068<br />

homozygous robertsonian translocations:<br />

P03.44<br />

hormone resistance: P04.186<br />

hospital-based case-control study: P01.267<br />

host-karyome-microbiome interactions: PL1.1<br />

Hotspot: C13.2, P04.005<br />

HOXD13: C11.1<br />

HPFH: P01.011, P01.015<br />

HPRT1: P01.059<br />

HPS: P04.006<br />

HRAS: P01.189<br />

HR-CGH: P02.007<br />

HRM: P04.069, P05.031, P05.109, P07.069,<br />

P08.39<br />

HR-MCA: P08.40<br />

HSCR: P05.088, P06.130<br />

HSP: P05.186, P05.212, P06.131<br />

HSP90: P06.246<br />

hTERC: P04.096<br />

hTERT, COX2: P04.198<br />

hTERT: P04.096<br />

Hu11cells: P10.15<br />

human development: P08.41<br />

<strong>Human</strong> diversity: P07.072<br />

human genetics: P07.070, P08.81<br />

human genome: P08.58<br />

<strong>Human</strong> Leukocyte Antigen Typing: P08.42<br />

human mesenchymal stem cells: P02.151<br />

human metaphase chromosomes: P02.138<br />

human pedigree: P06.132<br />

human placentas: P02.049<br />

human-canine testing model: P06.322<br />

Hunter syndrome: P10.16<br />

Huntington Disease: EP08.1, EP08.2,<br />

P01.296<br />

Huntington disease-like: P01.295<br />

Huntington: EP12.2, P01.295<br />

Huntington’s Disease: EP13.5, EP13.6,<br />

EP14.13, P05.089<br />

Huntington’s: EP13.4<br />

hydrops fetalis: P01.327<br />

hydrops: P01.352<br />

hydroxymethylbilane synthase: P05.161<br />

hydroxyurea: P10.05<br />

hygroma colli: P03.31<br />

Hyperferritinemia: P01.051<br />

hyperinsulinism: P01.297<br />

hyperisulinemia: P01.313<br />

hypermethylation: P04.167<br />

hyperparathyroidism: P06.133<br />

hyperphosphatasia: P01.298

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