24.08.2013 Views

2008 Barcelona - European Society of Human Genetics

2008 Barcelona - European Society of Human Genetics

2008 Barcelona - European Society of Human Genetics

SHOW MORE
SHOW LESS

You also want an ePaper? Increase the reach of your titles

YUMPU automatically turns print PDFs into web optimized ePapers that Google loves.

Keyword Index<br />

MLH1: P04.010, P04.022, P04.023, P04.204<br />

MLL: P04.095<br />

MLPA (multiplex ligation dependent probe<br />

amplifica: P06.315<br />

MLPA: P01.103, P01.115, P01.221, P01.320,<br />

P01.362, P02.001, P02.008, P02.014,<br />

P02.015, P02.050, P02.074, P03.11, P03.51,<br />

P03.52, P03.62, P04.027, P05.095, P05.120,<br />

P05.183, P06.183, P06.184, P08.50, P08.63<br />

MLS: P01.321<br />

MMP20: P05.005<br />

MMR: P04.016<br />

Modifiers: P07.064<br />

modifying factor: P05.036<br />

modulation factors: P01.105<br />

MODY3: P05.131<br />

moebius syndrome: P01.322<br />

Molar Tooth Sign: P01.309<br />

Molecular Analysis: P05.032<br />

molecular basis: P01.011<br />

Molecular Biomarkers: S03.4<br />

Molecular cytogenetics: P02.168, P02.196<br />

molecular defects: P01.201<br />

molecular diagnosis: P04.065<br />

molecular diagnostics: P01.024, P01.287<br />

Molecular <strong>Genetics</strong> testing: P09.44<br />

molecular genetics: P01.156, P01.279,<br />

P09.55<br />

molecular interaction networks: S12.2<br />

molecular pr<strong>of</strong>iling: P04.014, S12.1<br />

MOMO syndrome: P01.323<br />

Monilethrix: P05.213<br />

monosomy 21: P02.169<br />

monosomy 3: P04.205<br />

monosomy 3p: P02.210<br />

Monozygotic twins: P06.126<br />

monozygotic: P01.044<br />

Mood Disorder: P06.001, P06.121<br />

Mood disorders: P06.177<br />

morbidity: P09.52<br />

Morgagni: P02.139<br />

Morocco: P07.023<br />

Morpholino Antisense Oligonucleotides<br />

(AMOs): C15.2<br />

Morquio IVB type: P01.043<br />

Mosaic aneuploidy: P03.53<br />

mosaic NF1: P01.197<br />

mosaic trisomy 22: P01.324<br />

mosaic: P02.215<br />

mosaicism: P01.166, P02.084, P02.102,<br />

P02.113, P03.45, P03.63, P05.132, P05.146<br />

MOTIVATION: EPL3.3<br />

motor neuron disease: P06.018<br />

MOTOR NEURON: P05.181<br />

mouse models: P08.61<br />

Mowat-Wilson syndrome: P01.326<br />

Mowat-Wilson: P01.325<br />

MPNST: P01.194<br />

MPS 1: P01.044<br />

MPZ: P01.226, P01.256<br />

MRI: P01.274<br />

mRNA decay: P01.162<br />

mRNA expression: P08.66<br />

mRNA: P01.038<br />

MRP1: P04.097, P04.098<br />

MRT3: C14.3<br />

MSH2: P04.010, P04.017, P04.024<br />

MSH6: P04.011<br />

MS-MLPA: P01.090, P02.055, P02.058,<br />

P02.060<br />

MSUD: P09.22<br />

MSX1 gene: P06.185<br />

mt DNA: P07.084<br />

mtDNA: P04.142, P05.064, P05.130,<br />

P06.298, P07.065, P07.135<br />

MTHFR C677T: P06.065<br />

MTHFR polymorphism: P04.163<br />

MTHFR severe deficiency: P05.134<br />

MTHFR: P05.133, P05.197, P06.050,<br />

P06.186, P06.187, P06.204, P06.278, P08.55<br />

MTHFR-C677T variant: P07.091<br />

mTOR: P04.123<br />

MTR: P04.164<br />

Mucopolysaccharidosis VII: P01.327<br />

Muliple Sclerosis: P05.125<br />

multicultural: EP10.12, P09.18<br />

multidisciplinary approach: C11.4<br />

Multidisciplinary: EP05.2<br />

Multidrug Resistance Protein 1: P07.027<br />

multiple congenital anomalies: P02.130<br />

multiple congenital anomaly syndrome:<br />

P01.096<br />

Multiple endocrine neoplasia type 2A<br />

(MEN2A): EP13.8<br />

multiple endocrine neoplasia: P04.165<br />

Multiple Ligation Probe Amplification:<br />

P02.125<br />

multiple malformations: P01.330<br />

multiple myeloma: P04.114, P06.074<br />

multiple primary tumors: P04.166<br />

Multiple sclerosis: P01.345, P05.191,<br />

P06.010, P06.188, P06.189, P06.190,<br />

P06.191, P06.192, P06.193, P06.197,<br />

P07.067<br />

Multiple sulfatase deficiency: P01.061<br />

Multiplex Assays: P07.074<br />

Multiplex Ligation Probe Amplification:<br />

P08.45<br />

multiplex ligation-dependent amplification<br />

(MLPA): P01.238<br />

Multiplex PCR: P06.191<br />

multiplex STRs: P04.094<br />

multiplex: P08.74<br />

multisystem type I pseudohypoaldosteronism:<br />

P01.328<br />

Multple osteochondromas: P01.160<br />

Mulvihill-Smith: P01.329<br />

Munc13-4 mutations: P05.040<br />

muscle fiber: P06.309<br />

muscle: P01.306<br />

muscular disorders: P05.124<br />

muscular dystrophy: P08.25<br />

muscular weakness: P01.206<br />

Muscular: P07.119<br />

musical aptitude: P06.194<br />

muslim world: EP10.11<br />

mutation 35delG and M34T: P07.092<br />

mutation analysis: P01.040, P05.117,<br />

P06.248<br />

Mutation database: P08.15<br />

mutation detection: P04.031, P05.148,<br />

P06.195<br />

mutation scanning: P04.026, P06.196<br />

mutation screening: P06.093, P06.290<br />

mutation/expression: P04.176<br />

Mutation: P01.005, P01.006, P01.017,<br />

P01.038, P01.062, P01.159, P01.179,<br />

P01.205, P01.209, P01.242, P01.294,<br />

P01.369, P01.370, P04.062, P04.159,<br />

P05.061, P05.075, P05.110, P05.156,<br />

P05.173, P06.125, P06.201, P06.211,<br />

P06.234, P08.10, P08.11, P08.56, P08.57,<br />

PL2.4<br />

mutations: P01.056, P01.200, P04.001,<br />

P04.092, P04.127, P05.053, P05.064,<br />

P05.065, P05.119, P05.135, P06.019,<br />

P06.149, P08.79<br />

MUTYH: P04.004<br />

MUTYH-associated polyposis: P04.025<br />

MyBPC3: P01.300, P01.301<br />

myelin: P05.136<br />

Myelodysplastic Syndrome: P04.107,<br />

P04.109<br />

myelodysplastic syndromes: P04.071<br />

myelodysplastic: P04.115<br />

Myelodysplatic syndrome: P04.116<br />

myeloid leukemia: P04.077<br />

Myeloperoxidase: P06.226<br />

Myeloproliferative disorders: P04.117<br />

myeloproliferative neoplasms: P04.083<br />

myeloproliferative: P04.115<br />

MYH: P04.011<br />

MYH7: P05.065<br />

MYO9B: P06.197<br />

MYOC: P06.241<br />

myocardial infarction: P05.137, P05.138,<br />

P06.198<br />

Myocilin: P05.057<br />

myopathy: P01.206<br />

myopathyc process: P05.133<br />

myopia: P06.199<br />

Myosin Binding Protein C: P05.090<br />

Myotonia congenita: P01.212, P05.023<br />

myotonia: P06.302<br />

Myotonic dystrophy type 1: P01.215<br />

Myotonic dystrophy type 1: P01.224,<br />

P05.032<br />

Myotonic Dystrophy: EPL6.2, P01.213,<br />

P01.214, P06.200<br />

Na Channelopathy: P05.177<br />

Nager syndrome: P03.49<br />

Nahuas: P07.032<br />

Nail-patella syndrome: P01.330, P06.201<br />

NAIP: P01.216<br />

narrative perspective: EP10.21<br />

Narrow chest: P01.143<br />

NASBA: P08.51<br />

NAT2: P06.011, P06.047, P06.289<br />

natural autoantibodies: P06.202<br />

Natural background radiation: P07.029<br />

natural selection: P06.262, P06.263

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!