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2009 Vienna - European Society of Human Genetics

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Keyword Index<br />

malignant hyperthermia: P12.047,<br />

P12.144, P16.47<br />

malonyl-CoA decarboxylase: P11.067<br />

malonyl-CoA: P11.002, P11.067<br />

Management: P03.171<br />

manganese superoxide dismutase:<br />

P06.054<br />

mapping: P12.077<br />

Marfan syndrome: P02.066, P03.040,<br />

P12.039, P12.108, P12.109<br />

Marker: P03.095<br />

Massive parallel sequencing: C01.5<br />

Mate pair: P11.117<br />

mate selection: C09.4<br />

Maternal age: P04.01<br />

maternal cell contamination: P05.17<br />

Maternal Plasma: P05.18, P05.22<br />

maternal upd 14: P11.068<br />

MATERNAL UPD7: P02.030<br />

matrimonial distances: P04.10<br />

matrix metalloproteinase: P04.04, P08.48<br />

matrix metalloproteinase-3: P17.45<br />

MBD2: P11.040, P14.01<br />

MC1R: C06.1<br />

MCT8: P11.069<br />

MDA: P11.070<br />

MDC1A: P16.39<br />

MDD: P09.071<br />

MDR: P06.178<br />

mdr1/abcb1: P10.52<br />

MDR1: P06.055<br />

MDS: P06.204<br />

mechanisms: P03.145<br />

Meckel syndrome: C03.2<br />

Meconium Ileus: P02.127<br />

MECP2: P02.184, P02.190, P02.191,<br />

P11.106<br />

media: P01.42<br />

Medical Genetic Services: P01.32<br />

Medical <strong>Genetics</strong>: P01.14<br />

medical outcome: P05.49<br />

medical students: P01.48<br />

medical, psychological and pedagogical<br />

resources: P01.34<br />

medical-genetic, psycho-pedagogical<br />

rehabilitation: P01.34<br />

Mediterranean: P10.26<br />

medulloblastoma: P06.063<br />

MEF2C: C16.2<br />

MEFV gene mutations: P08.28<br />

MEFV: P10.24<br />

megalocornea: P02.067<br />

meiosis: P03.049<br />

melanoma: C06.1<br />

MELAS: C07.4<br />

MEN1: P01.35, P06.056<br />

MEN2: S08.1<br />

mendelian diseases: C15.6<br />

Ménière’s disease: P08.42<br />

meningoencephalocelle: P02.047<br />

Menkes disease: P13.32<br />

Menopause: C10.3, P04.22<br />

mental retardation: C14.2, P02.006,<br />

P02.067, P02.068, P02.069, P02.070,<br />

P02.074, P02.152, P02.183, P02.184,<br />

P02.190, P02.192, P03.003, P03.064,<br />

P03.069, P03.073, P03.074, P03.081,<br />

P03.096, P03.097, P03.098, P03.109,<br />

P03.114, P03.115, P03.116, P03.156,<br />

P03.158, P03.169, P09.112, P10.53,<br />

P11.026, P12.110, P12.151<br />

mentally retardation: P03.034<br />

Merrf: P02.071<br />

Mesoaxial polydactyly: P05.33<br />

meta-analysis: C10.6, P08.15, P09.004<br />

metabolic disorders: P09.014<br />

Metabolic syndrome: P10.06, P13.01,<br />

P17.07, P17.08, P17.31, P17.32<br />

metabolism: P13.43<br />

metabolomics: P13.28, PL2.1<br />

Metachromatic leukodystrophy: P02.072<br />

metastasis: P06.001<br />

metatarsal duplication: P02.033<br />

methaemoglobinaemia: P12.111<br />

methionine synthase (MTR) gene: P09.130<br />

methionine synthase reductase (MTRR):<br />

P09.130<br />

methylation analysis: P11.027<br />

methylation pattern: P06.128<br />

Methylation: C15.2, P02.108, P04.07,<br />

P06.057, P06.081, P06.099, P06.126,<br />

P06.139, P11.008, P11.034, P11.059,<br />

P11.062, P11.066, P11.071, S13.2<br />

Methyl-binding domain-Protein: P06.057<br />

methylmalonic acid: S11.2<br />

methylmalonic acidemia: C12.3, P13.04,<br />

P13.05<br />

Methylmalonic Aciduria: P13.33<br />

methylome: P11.014<br />

mexican females: P06.018<br />

mfn2: P16.37<br />

MGMT: P06.015<br />

MHC genes: C09.4<br />

MHC odortype: C09.4<br />

MHC: P01.46, P06.144, P09.101, P10.54<br />

micro RNA: P11.072<br />

microarray analysis: P03.104, P11.009<br />

microarray enrichment: C01.3<br />

microarray, RT-PCR: P02.145<br />

microarray: C07.2, P02.189, P03.078,<br />

P06.012, P06.058, P06.062, P06.074,<br />

P10.23, P11.026, P11.091, P13.27<br />

microarrays: P02.159<br />

microbes: PL3.2<br />

microcephaly,: P03.111<br />

microcephaly: P02.033, P02.073, P02.091,<br />

P02.152, P02.193, P03.125<br />

microdeletion 15q11.2: P03.062<br />

microdeletion syndrome: C02.5, P03.087,<br />

P03.167, P12.165<br />

microdeletion: P02.136, P03.063, P03.064,<br />

P03.066, P03.186, S05.2<br />

microdeletional syndromes: P03.088<br />

microdeletions: P03.199<br />

microduplication 22q11.2: P09.072<br />

microduplication 22q11: P03.179<br />

microduplication: P02.145, P03.181<br />

microenvironmental microarrays: S12.4<br />

micr<strong>of</strong>luidic technology: P11.094<br />

Micronuclei frequencies: P03.039<br />

micronuclei: P03.041, P03.045<br />

Micronucleus: P03.042<br />

microRNA: P11.016, P11.039, P11.073,<br />

PL2.6<br />

microRNA-125b: P06.059<br />

microRNAs: C14.1, P05.18, P17.33, S02.2<br />

Microsatellite Instability: P05.45, P06.141<br />

microsatellite markers: P05.17<br />

microsatellite: P05.14<br />

microtubule-instability: P11.031<br />

microvillus inclusion disease: C11.6<br />

Migraine: P09.073<br />

mild phenotype: P03.141, P12.048<br />

minigenes: P12.161<br />

Minors: S03.1<br />

miRNA: P06.060, P11.100<br />

miRNAs: C01.4<br />

mirror polysyndactyly: P02.154<br />

miscarriages: P04.11<br />

misdiagnosis: P02.106<br />

Mismatch Repair (MMR) genes: P06.149<br />

missed abortion: P05.07<br />

missing data likelihood: C05.6<br />

mitochondiropathy: P12.112<br />

Mitochondria mutation: P03.192<br />

mitochondria: C07.4, P04.26, P11.075,<br />

P12.065, P13.34, P13.44, P13.48, S10.2<br />

MITOCHONDRIAL DISEASE: P02.064<br />

mitochondrial disorders: P13.02, P13.30<br />

Mitochondrial DNA depletion syndrome:<br />

P13.10<br />

mitochondrial DNA disorders: P05.46<br />

Mitochondrial DNA mutations: P03.194,<br />

P05.47<br />

mitochondrial DNA: P02.061, P05.39,<br />

P17.08, P17.53<br />

mitochondrial mutation: P12.113<br />

Mitochondrial: P02.063, S09.3

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