2008 Barcelona - European Society of Human Genetics

Keyword Index
NBIA: P01.331
NBN gene: P05.142
NBN mutation: P01.332
NBS1 gene: P04.166
NBS1: P04.086, P04.112
NDUFS1: P06.192
need for information: EP14.16
negative selection: P05.002
neonatal diabetes: P05.102
neonatal diagnosis: P07.016
neonatal follow-up: P03.67
Neonatal screening program: P01.074
neonatal screening: C14.5, EP14.08
neonatal teeth: P01.131
neonatal: P09.45
neonate: P06.252
neoplastic clones: P04.177
nephrin gene (NPHS1): P05.028
nephrolithiasis: P06.049, P06.320
nephrotic syndrome: P06.201, P06.203
NEPHROTYC: P01.335
network reconstruction: S12.1
Network: EP05.3, P01.282, P09.05
networks: P08.12
neural tube defects: P06.187, P06.204,
P06.205
neuroblastoma: P02.170, P04.167, P04.168
neurodegenerative diseases: P05.139
Neurodegenerative Disorders: P05.128
neuroendocrine tumors: EP08.8
neurofibroma number: P01.196
Neurofibromatisis-Noonan like Syndrome:
P01.175
Neurofibromatosis 1: P01.199
Neurofibromatosis I: P01.195
Neurofibromatosis type 1: C15.2, EPL6.3,
P01.191, P01.192, P01.196, P01.197
Neurofibromatosis: P01.190, P01.198
neurokinin B: P05.140
Neuroligin: P05.007
neuromuscular disorders: P06.258
neuronal ceroid lipofuscinosis: P06.207
Neuronal migration: P01.239
neuronal: P06.094
neuropathy: P06.310
neuropsychiatric disorders: P06.245
neuropsychological: P01.288
neuropsychology: P06.208
neurotrophic factors: P06.056
new molecular target: P04.188
New mutation: P04.016
new mutations: P01.073
new technology: P08.40
newborn screening: EP06.2
Newfoundland: P01.095, P06.105
Next Generation Sequencing: P08.58,
P08.59
next-generation sequencing: C05.2
NF 1: P01.193
NF1: C15.2, P01.194, P01.197, P01.198,
P01.199, P04.013
NFATC4: P06.209
NF-kappaB: P05.141
nibrin: S14.3
nicotinic acetylcholine receptor: P06.098
Niemann-Pick type C: P01.063
Nijmegen breakage syndrome: P02.171,
P04.169, P05.142
Nijmegen breakage: P01.332
NIPA1: P06.128
NIPBL gene: P07.093
NIPBL: P01.266
NLGN: P05.007
NOD2/CARD15: P06.137
nodular periventricular heterotopia: P01.333
noise induced hearing loss: P06.210
nomenclature: P01.286
Non Invasive: P03.24
Non Melanoma Skin Cancer: P04.170,
P04.189
Nonbullous congenital ichthyosiform
erythroderma: P05.143
non-CML Chronic myeloproliferative
disorders: P04.118
non-coding mutation: P05.072
nondisjunction: P02.107, P06.089
Non-disjunction: P05.034
none: EW3.1
non-enzymatic labeling: P08.30
nonhomologous recombination: P02.042
non-invasive prenatal diagnosis: P03.09,
P03.21, P03.22, P03.23
noninvasive prenatal diagnosis: P03.54
noninvasive prenatal testing: P03.20
non-invasive sample collection: P10.21
noninvasive: P03.25
Nonketotic Hyperglycinemia: P09.46
non-polyposis colorectal cancer: P04.028
Non-Small Cell-Lung Cancer: P04.171,
P04.172
non-syndromic cleft lip with/without palate:
P06.248
non-syndromic hearing loss: P07.053
nonsyndromic mental retardation: P05.144
Noonan like syndrome: P01.177
Noonan Syndrom: P01.178
Noonan Syndrome Type 4: P01.181
Noonan syndrome/LEOPARD syndrome:
P01.183
Noonan syndrome: P01.179, P01.180,
P01.182, P01.185, P01.186, P01.187,
P01.188, P03.31, S13.1
Noonan: P01.176, P01.184
Norrie: P06.211
NOS2 gene: P06.296
NOTCH1: P01.243, P01.334
NOTCH3 gene: P07.094
Notch3: P05.018
Novel mutation in TH gene: P01.280
novel mutation SOX9: P01.123
novel mutation: P01.132, P01.204
Novel variants: P01.074
NPC1 gene: P01.045
NPD: P01.045
NPHS1: P05.082
NPHS2: P01.335, P05.145, P07.098
NPS: P05.146
NPY: P07.095
Nrf2: P05.089
NRG1: P06.264
NSCLC: P08.49
NSD1: P05.183
NSF: P02.039
NSHL: P05.081
NTD: P06.206
NTRK2 gene: P06.034
NTRK3: P05.088
nuchal translucency: P03.42
nuclear architecture: P02.112
Nutrition: P06.212, P10.07
oa CGH: P02.025
OA1: P06.324
obesity: P01.323, P05.147, P06.213,
P06.214, P06.288, P07.104, P07.109
OCA2: P09.47
occupational chronic bronchitis: P06.215
OCT1: P06.216
OCT2: P06.216
OCT3/4: P04.173
OCT3: P06.216
ocular anomalies: P01.125
oculocutaneous albinism: P02.172, P09.47
Oculo-Facio-Cardio-Dental (OFCD)
syndrome: P01.336
Oculopharyngeal muscular dystrophy:
EP10.20, P01.217
oesophageal atresia: P05.148
Of association: P06.020
OFD1: C12.5, P05.151
OFDI: P05.149
Oligo array-cgh: C04.2
oligo-array CGH: P08.04
oligodactyly: P01.135
oligonucleotide aCGH: P02.095
oligonucleotide probe: C09.6
oligophrenin: P01.081
Oligosaccharyltransferase: C07.1
Omanı type: P01.147
omic approach: P06.259
Omphalocele: P01.289
on line genetic consultation: P09.29
Oncocytic Tumors: P04.174
oncogene amplification: P04.171
Oncogene: P04.141, S14.1
oncogenetics: P01.260
Online database: P09.48
OPHN1 gene: P01.082
opisthorchosis: P06.028
Opitz Syndrome: C12.3, P05.150
Opitz trigonocephaly syndrome: P05.020
Optic Atrophy: P01.232
Oradea, Vascau: P07.041
Oral cancer: P04.175
oral clefts: P01.337, P06.217
oral squamous cell carcinoma: P04.163
oral-facial-digital syndrome type 1: P05.151
oral-facial-digital syndrome: P01.338
Organ transplantation: P04.189
orofacial clefting: P01.255
Orphanet: P09.48
osteoarthritis: P06.218