2008 Barcelona - European Society of Human Genetics
2008 Barcelona - European Society of Human Genetics
2008 Barcelona - European Society of Human Genetics
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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