2009 Vienna - European Society of Human Genetics

Keyword Index
Joubert syndrome- JSRD: C03.1
Joubert syndrome: C03.2
JPH3 gene: P12.089
JPS: P12.100
Juvenile Huntington disease: P02.055
juvenile idiopathic arthritis: P09.034,
P09.035
juvenile rheumatoid arthritis: P14.23
K
K562 cells: P11.029
K600fs: P16.13
Kabuki syndrome: P02.057
kabuki: P02.056
Karak syndrome: P12.101
Karyotype: P03.005, P03.037, P03.046,
P03.119, P03.190, P04.09
karyotyping: P03.001, P03.134, P04.23,
P06.103
Kashin-Beck: P09.065
Kawasaki disease: P10.49
kayaking: P09.066
KB: P15.06
KCNH2: P16.19, P16.29
KCNQ1: C10.1, P16.19, P17.05
KCNQ2: P17.70
keratin: C12.5
keratinocytes: P06.046
Keratosis Follicularis Spinularis Decalvans:
P12.102
kermanshah: P12.010
ketone body: P11.057
KFSD: P12.102
Khanty: P10.90
kidney: P02.085
KIF2A: P03.117
kinship: P10.50
kit: P11.062
Klinefelter syndrome: P02.032, P03.038
Knobloch syndrome: P02.058, P02.059
knock-down: C11.6
knockout mouse: P06.085
KORA: P17.05
kRAS: P06.155, P06.205, P06.206,
P06.207
KRT5,KRT14: P02.036
L
laboratory of Leningrad province: P01.36
laboratory parameters: P05.08
laboratory techniques: P01.49
LAMA2 gene: P11.063
LAMA2: P16.39
LARC: P11.040
large rearrangement: P06.112, P06.159,
P12.160
large-scale discovery: P11.064
large-scale genomic data: P11.025
Larsen: P02.153
laryngeal and oropharyngeal cancer:
P06.050
laryngeal membrane: P03.177
laryngomalacia: P02.060
LAT2: P13.29
late diabetic microvascular complication:
P17.03
Late onset: P09.024
LATS2: P06.051
Laurin-Sandrow Syndrome: P02.154
Laurin-Sandrow syndrome: PL2.4
LBSL: P02.203
LCT: P09.067
LDLR gene: P17.48
LDLR: P17.49
L-Dopa Selegiline therapy: P14.18
Lead: P03.039
Leber: P12.103
Leber’s hereditary optic atrophy: P12.082
left ventricular noncompaction: P16.28
legal status: P01.24
Leigh-syndrome: P02.061, P13.30
LEOPARD syndrome: P02.135, P02.139
LEOPARD: P02.138
LEP: P10.01
leptin receptor: P05.15, P09.089, P17.30
leptin: P05.14, P08.39, P09.089, P17.30
Lesch-Nyhan syndrome: P12.104
lethal skeletal dysplasia: P02.151
leucoencephalopathy: P02.062
leukodystrophy: P12.113
leukoencephalopathy: P02.203
Lewy Body Dementia: P09.106
LGMD2A: P16.45
LGMD2F: P14.12
LHON: P02.063, P02.064
Li Fraumeni Syndrome (LFS): P06.052
Li-Fraumeni syndrome: P06.053, S08.2
Liguidators the Accident: P07.02
Limb Body Wall Complex: P05.16
limb girdle muscular dystrophy: P16.30
limb malformation: P02.155
Limb reduction defects: P02.156
limb: P02.008
limb-girdle muscular dystrophy: P16.46
limitation of tongue movement: P02.051
Linkage Analysis: P08.47, P10.32
linkage disequilibrium: P08.40
linkage power: P08.41
Linkage: P08.34, P08.35, P08.40, P12.032
Lipid profile: P17.18
lipid-associated disorders: PL1.1
liposarcoma: P06.033
Lithuanian cohort: P09.056
liver cirrhosis: P10.27
liver disease: P02.126, P13.25
Liver fibrosis: P11.053
Liver malformation: P02.024
LMBRD1: P13.08
LMNA: P02.100
LN metastases: P06.134
Lobular breast cancer: P06.036
locus identification: C04.5
locus-specific mutation database: P11.065
Loeys-Dietz Syndromes: P02.065
Long QT syndrome (LQTS): P16.29
Long QT syndrome: P16.15
longevity: P09.074
loss of heterozygosity: P06.015, P06.101
loss of imprinting: P04.17
loss of methylation: P11.068
LOVD: P11.065
Low HDL: C10.2
low penetrance genes: C06.4
LQTS: P16.19
LRP1: P08.06
LRPAP1: P08.06
LRTOMT: C14.3
LS32: P15.07
LSDBs: P11.102
luciferase: P11.103
lung cancer: P07.07
LV hypertrophy: P09.013
lymphocytes: P10.42
lymphoproliferations: P06.092
Lynch syndrome: P06.145, P06.147,
P06.149, P06.150, P06.151, S13.2
lysinuric protein intolerance: P12.105,
P12.134
lysinuric protein-intolerance: P12.106
Lysosomal enzymes: P13.31
Lysosomal starage disorders: P13.13
Lysosomal Storage Diseases: P13.31
lysosomal storage disorder: P05.21
m
macro ncRNAs: P11.028
Madeira Island: P10.02
Madeira population: P10.07
major depression: P09.068
major depressive disorder: C05.2,
P09.069, P09.070
Mal de Meleda: P12.107
malaria: P10.51
male infertility: P02.119, P03.187,
P03.188, P03.191, P03.192, P03.193,
P03.194, P03.198, P11.066
Male Syndrome: P03.200
malformations: P03.048, P03.073