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| 1. |
Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class |
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Journal of Medical Genetics,
Volume 40,
Issue 9,
2003,
Page 106-106
A GYip,
ADürr,
D AMarchuk,
AAshley-Koch,
AHentati,
D CRubinsztein,
EReid,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 2. |
Sensitivity ofBRCA1/2mutation testing in 466 breast/ovarian cancer families |
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Journal of Medical Genetics,
Volume 40,
Issue 9,
2003,
Page 107-107
D G REvans,
MBulman,
KYoung,
DGokhale,
FLalloo,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
|
| 3. |
Promoter polymorphisms of theCD14gene in Italian patients with coeliac disease |
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Journal of Medical Genetics,
Volume 40,
Issue 9,
2003,
Page 108-108
MBoniotto,
LBraida,
AVentura,
SPercopo,
AAmoroso,
SCrovella,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 4. |
The genetics of inherited macular dystrophies |
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Journal of Medical Genetics,
Volume 40,
Issue 9,
2003,
Page 641-650
MMichaelides,
D MHunt,
A TMoore,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 5. |
Demographic and phenotypic features of 70 families segregating Barrett’s oesophagus and oesophageal adenocarcinoma |
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Journal of Medical Genetics,
Volume 40,
Issue 9,
2003,
Page 651-656
C MDrovdlic,
K A BGoddard,
AChak,
WBrock,
LChessler,
J FKing,
JRichter,
G WFalk,
D KJohnston,
J LFisher,
W MGrady,
SLemeshow,
CEng,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 6. |
HRPT2mutations are associated with malignancy in sporadic parathyroid tumours |
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Journal of Medical Genetics,
Volume 40,
Issue 9,
2003,
Page 657-663
V MHowell,
C JHaven,
KKahnoski,
S KKhoo,
DPetillo,
JChen,
G JFleuren,
B GRobinson,
L WDelbridge,
JPhilips,
A ENelson,
UKrause,
KHammje,
HDralle,
CHoang-Vu,
OGimm,
D JMarsh,
HMorreau,
B TTeh,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 7. |
Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays |
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Journal of Medical Genetics,
Volume 40,
Issue 9,
2003,
Page 664-670
HFiegler,
S MGribble,
D CBurford,
PCarr,
EPrigmore,
K MPorter,
SClegg,
J ACrolla,
N RDennis,
PJacobs,
N PCarter,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 8. |
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22 |
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Journal of Medical Genetics,
Volume 40,
Issue 9,
2003,
Page 671-675
E MChan,
D EBulman,
A DPaterson,
JTurnbull,
EAndermann,
FAndermann,
G ARouleau,
A VDelgado-Escueta,
S WScherer,
B AMinassian,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 9. |
Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries |
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Journal of Medical Genetics,
Volume 40,
Issue 9,
2003,
Page 676-681
H P HNeumann,
MSalzmann,
BBohnert-Iwan,
TMannuelian,
CSkerka,
DLenk,
B UBender,
MCybulla,
PRiegler,
AKönigsrainer,
UNeyer,
ABock,
UWidmer,
D AMale,
GFranke,
P FZipfel,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 10. |
Neurofibromatosis 2 in a patient with ade novobalanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2) |
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Journal of Medical Genetics,
Volume 40,
Issue 9,
2003,
Page 682-684
CBovie,
S THolden,
ASchroer,
ESmith,
DTrump,
F LRaymond,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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