2008 Barcelona - European Society of Human Genetics

Keyword Index 0
sperm: P02.205
spermatozoa: P02.224, P02.229, P02.236
SPG11: P05.185
SPG15: P05.184
SPG31: P06.131
SPG4: P01.360, P05.083, P05.186
spicocerebellar ataxia type 3 (SCA3):
P05.187
spinal malformations: P01.137
spinal muscular atrophy: C07.4, P01.218,
P01.219, P05.188, P09.27, P10.26
Spinal: P07.119
Spinocerebellar ataxia type 1: P07.111,
P07.120
Spinocerebellar Ataxia Type I: P07.121
Spinocerebellar ataxia: P05.189
Splice mutations: P06.273
splice site mutation: P04.037
splicing defect: P10.09
splicing defects: C07.2, C12.6
splicing mutations: P05.043
splicing: P01.215, P05.024, P07.093
split hand foot malformation: C11.5
Spondylocarpotarsal synostosis syndrome:
P01.170
spondyloenchondrodysplasia: P01.145
spondyloepimetaphyseal dysplasia: P01.146
spondyloepıphyseal dysplasıa: P01.147
spontaneous abortion: P03.62, P09.67
Spontaneous abortions: P02.117, P03.59,
P06.174
sporadic breast cancer: P04.065, P04.066
Sport: P06.004
SPRY1 gene: P06.274
squamous cell carcinoma: P04.151
SRY gene: P02.102, P02.103, P02.104
SRY: P02.101, P02.105
SSCP: P05.079
ß-hydroxyglutarate: S11.3
sSMC: P02.093
standards: EW2.1
Stargardt disease: P05.190
statin: P06.275
statins: P10.19
statistical models: C14.4
statstics: P03.27
stem cells: P08.75, S10.1
Steroid-resistant nephrotic syndrome:
P05.145
Stickler syndrome: C11.2
STR duplication: P03.39
STR loci: P07.079
STR markers: P01.262, P03.05
STR: P07.043
stratification: C13.6
stress response signaling: P06.246
Stroke: P01.361, P06.276, P06.277,
P07.062, P07.094, P08.75
structural chromosome aberrations: P02.228
structural chromosome abnormalities:
P03.63, P03.71
structural chromosome abnormality: P03.64
Structural variation: C05.2, P05.191, PL2.5
study design: P06.115
subjective risk: EP08.8
submicroscopic chromosome imbalance:
S08.1
subtelomere: P02.002, P02.008
subtelomeric aberrations: P02.003
Subtelomeric deletion: P02.004
subtelomeric imbalances: P02.014
subtelomeric rearrangements: P02.001,
P08.45
subtelomeric region: P02.010
subtelomeric regions rearragements:
P05.192
Subtelomeric regions: P02.013
subtelomeric: P02.132
Sudden death: P06.160
suicide: P06.278, P07.122
supernumerary marker chromosome: P03.52
supernumerary marker chromosomes:
P02.199
support group: EP14.03
Support: EP13.1
SUR1: P01.297
susceptibility testing: EP09.1
susceptibility to disease: EPL5.4
susceptibility: P04.159, P06.167, P07.021,
S06.1
symphysiopatia: EP01.10
symptomatic patients: EP07.4
Synaptonemal complex: P02.232
SYNDROME: P01.335
Syndromic microcephaly: P01.174
synovial sarcoma: P04.200
systematic review: EP07.4
systemic disorder: P01.223
Systemic lupus erythematosus (SLE):
P06.280
Systemic Lupus Erythematosus: P06.106,
P06.279
systems biology: S12.3
T cell acute lymphoblastic leukemia: P04.100
t(11;22): P02.200
t(13;14): P03.47
t(21;21): P02.159
t(3;16): P02.188
t(3;21)(q26;q22): P04.072
t(4;10)(q25;q26): P02.149
t(9;22): P04.070
t(X;Y): P02.201
T1DM: P07.123
T315I mutation: P04.102
T8993G: P05.114
tagSNP: P06.295
Takotsubo Cardiomyopathy: P05.193
T-ALL: P04.101
Tandem duplication: P07.029
TaqMan assays: P08.17
TaqMan: P08.32
targeted therapy: P04.117
TAU: P05.181
taurodontism: P01.364
Tay-Sachs: P01.070
TBX1 CRKL mutation: P02.073
T-cells: P05.194
TCF4: P01.346
TCIRG1: P01.161
TCOF1 gene: P01.366
TCR/BCR rearrangements: P04.169
TCR: P05.194
TDP-43: P06.019
TDT: P06.054
teaching: P09.68
TECTA: P05.195
tectorial membrane (TM): P05.195
telehealth: EP10.22
Telomerase: P02.137, P04.133, P04.136
telomere length: P02.202, P04.136
telomere: P01.362, P04.070
telomeric association: P04.147
telomeric microdeletion: P02.130
Temporal Lobe Epilepsy: P06.266
TERC: P04.201
termination of pregnancy: EP14.21
TESE: P01.303
test: EP08.5
testicular dysgenesis syndrome: P01.363
testing: P01.203, P05.035
testis differentiation: P02.238
tetrasomy 18p: C01.4
TFFs: P06.281
TFIIH: P05.208
TFR gene: P04.049
TGFBR1: P10.18
TGFBR2: P05.118
TGM1: P05.143
thalassaemia: EP06.4, P01.010, P07.124,
P08.76
thalassemia intermedia: P01.024
Thalassemia: P01.004, P01.005, P01.015,
P01.016, P01.017, P01.018, P01.023
THBS4: P08.77
The 4P-syndrome: P02.045
the genes: P06.282
the load and the spectrum of hereditary
disorders: P07.057
the ß2-adrenergic receptor: P07.010
The Wiskott-Aldrich syndrome: P05.196
Therapeutic development: P10.08
therapy: S02.1
Thompsen: P05.023
thoracic aorta: P06.164
Thrombophilia: P05.061, P05.197
Thrombophilic gene mutation: P09.69
Thrombophilic gene mutations: P09.70
Thrombosis: P05.198, P06.283
thromboxane synthase: C03.3
thumb agenesis: P01.125
Thymidilate synthase: P04.178
Thymidine Kinase: P10.25
thyroid cancer: P06.284
thyroid gland cancer: P02.114
Thyroid hormone receptor beta mutation:
P05.200
thyroid hormone: P05.199
tibial hypo/agenesis: P01.148
Tie2: C02.2
tiling array: P08.62
tissue microarray: P04.058