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 />
NAT2: P12.118<br />
natridiuretic peptid precursor gene: P05.19<br />
Natural History: P03.170, P16.05<br />
NBIA: C14.5<br />
NBN gene: P06.063<br />
NBN: P10.64<br />
NBS: P10.64<br />
NBS1 gene: P06.064<br />
NDUFS1: P12.112<br />
NEMO: P02.054, P12.096<br />
Neonatal diabetes mellitus: P02.081<br />
Neonatal diabetes: S04.2<br />
neonatal hyperbilirubinemia: P05.20<br />
neonatal screening: P01.38, P05.10<br />
neonates: P05.30<br />
neoplasia: P06.003<br />
NEP: P09.036<br />
nephrotic syndrome: P12.119<br />
Network: P01.45, P02.118<br />
Neural Crest Cells: C17.4<br />
Neural Crest: C11.3<br />
neural tissue: P11.095<br />
neural tube defects: P09.086, P10.63,<br />
S15.1<br />
neuroblastoma: P06.049, P06.101<br />
neurodegeneration: C01.4<br />
neurodegenerative disorder: S10.3<br />
neurodevelopment: P09.113, P11.121<br />
neur<strong>of</strong>ibromatosis type 1: P14.22<br />
Neur<strong>of</strong>ibromatosis type I: P02.140<br />
Neur<strong>of</strong>ibromatosis: P15.08<br />
neurogenetics: P12.120<br />
Neuroichthyosis: P08.47<br />
neuromuscular disorders: C14.2<br />
neuron: S10.2<br />
Neuronal subtype specification: S15.3<br />
neuropathy: P02.137<br />
neuropsychiatric symptoms: P17.64<br />
neutrophil elastase: P12.045<br />
newborn screening: P01.37, P02.129,<br />
P02.130, P03.154<br />
Next Gen sequencing: P11.082<br />
next generation sequencing: P11.050,<br />
P11.072, P11.083, P11.084, P11.085,<br />
PL2.2<br />
next-generation sequencing: P11.086,<br />
P11.113<br />
NF1 gene: P02.140<br />
NF1: P02.132, P02.136, P02.137<br />
NFATC4: P09.015<br />
NF-kappa-B inhibitor alpha: P04.14<br />
NHEJ deficiency syndrome: P02.082<br />
NHL: P06.183, P06.198<br />
NHS: P12.117<br />
niche signaling: S12.4<br />
Nicolaides-Baraitser Syndrome: C08.1<br />
NIDDM: P17.10<br />
Niemann-Pick types A/B: P12.121<br />
Nijmegen breakage syndrome: P10.64<br />
NIPA1 and NIPA2: P03.062<br />
nitric oxide synthase: P17.21<br />
Nitric Oxide: P10.21<br />
NOD2/CARD15 gene: P09.057<br />
NOD2: P09.053, P09.058<br />
non invasive: P05.57<br />
non- syndromic ascending aortic aneurysm:<br />
P11.087<br />
noncentrality parameter: P08.41<br />
non-coding RNA: S02.1<br />
noncoding RNAs: P11.073<br />
Noncompaction Cardiomyopathy: C13.5<br />
none: P11.088<br />
non-immune hydrops foetalis: P05.21<br />
Non-Invasive Prenatal Diagnosis: P02.177,<br />
P05.22<br />
nonsense-mediated mRNA decay:<br />
P12.108, P12.110<br />
non-small cell lung cancer: P06.051<br />
non-syndromic cleft lip and palate:<br />
P09.075<br />
non-syndromic cleft lip/palate: P09.087<br />
Non-syndromic Hearing Loss: P12.122<br />
nonsyndromic mental retardation: P02.197<br />
Nonsyndromic sensorineural deafness:<br />
P10.65<br />
Nonsyndromic sensorineural hearing loss:<br />
P12.123<br />
Noonan syndrome: P02.133, P02.134,<br />
P02.139, P02.140, P02.141, P02.142,<br />
P02.144, P02.145, P02.146<br />
Noonan: P02.138<br />
noradrenergic system genes: P09.088<br />
normalization: P11.077<br />
Northwest region <strong>of</strong> Russia: P08.21<br />
NOTCH2: P12.007<br />
NOTCH3: P17.22<br />
novel mutation: P16.50<br />
novel mutations: P12.163<br />
novel syndrome: P02.083<br />
NPHS1: P12.044<br />
NRX1: P03.075<br />
NRXN2: P11.089<br />
NSCLC: P11.090<br />
nuclear transfer: P05.46<br />
Nucleostemin: P06.023, P06.065<br />
nutrition: P09.014<br />
Nystagmus: P03.030<br />
O<br />
obesity: C10.6, P08.39, P09.047, P09.089,<br />
P09.090, P09.091, P17.04, P17.12, S06.2<br />
Obsessive Compulsive Disorder: P09.092<br />
occipital encephalocele: P02.059<br />
occupational chronic bronchitis: P08.48<br />
OCT4: P06.024<br />
ocular findings: P03.117<br />
ocular malformation: P03.118<br />
OFCD: P02.084<br />
OFD1: P02.085, P12.125<br />
OFDI: P02.086<br />
Ohdo: P02.015<br />
Ohtahara syndrome: P12.124<br />
oligo array CGH: P03.047<br />
oligo design: P11.084<br />
oligoarrays: P03.074<br />
oligodendroglial tumors: P07.08<br />
oligodontia: P02.087<br />
oligogenic disease: P12.095<br />
oligonucleotide array CGH: P03.101<br />
oligonucleotides: P14.21<br />
Ontology: C15.4<br />
oocyte donors: P04.02<br />
oocyte-to-embryo transition: P04.14<br />
OPD spectrum disorders: P02.088<br />
ophthalmopathology: P10.56<br />
Opsismodysplasia: P02.162<br />
optic atrophy: P04.15<br />
Oral cancer: P06.066<br />
oral clefts: P02.089, P09.093<br />
Oral squamous cell carcinoma: P06.066,<br />
P06.067<br />
oral-facial-digital syndromes: P02.090<br />
organic aciduria: S11.2<br />
ORMDL3: P09.012<br />
Orodental phenotype: P02.022<br />
Oro-dental phenotypic spectrum: P03.172<br />
or<strong>of</strong>acial cleft: P05.29<br />
Or<strong>of</strong>aciodigital syndrome: P12.125<br />
OSMR: P08.53<br />
osteoarthropathy: P09.065<br />
osteochondrodysplasia: P10.66<br />
Osteogenesis imperfecta (OI): P12.127<br />
osteogenesis imperfecta: P10.67, P12.126<br />
osteopoikilosis: P03.072<br />
osteoporosis: C08.4, P09.094, P09.095,<br />
P11.021<br />
osteosclerosis: P02.158<br />
oto-facial syndrome: P02.091<br />
ot<strong>of</strong>erlin: P12.052<br />
otosclerosis: P09.048<br />
outreach: P01.42<br />
ovarian cancer: P06.068, P06.113<br />
Ovarian function: P09.099<br />
ovarian hyperstimulation syndrome:<br />
P04.16<br />
ovarian response: P04.05<br />
ovarion cancer: P06.133<br />
overlapping phenotype <strong>of</strong> Wolf-Hirschhorn
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