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| 1. |
Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis. |
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Journal of Medical Genetics,
Volume 35,
Issue 12,
1998,
Page 969-972
J BAli,
TSepp,
SWard,
A JGreen,
J RYates,
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ISSN:0022-2593
出版商:J Med Genet
年代:1998
数据来源: BMJ
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| 2. |
Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas. |
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Journal of Medical Genetics,
Volume 35,
Issue 12,
1998,
Page 973-977
C LWu,
NThakker,
WNeary,
GBlack,
RLye,
R TRamsden,
A PRead,
D GEvans,
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PDF (981KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1998
数据来源: BMJ
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| 3. |
Genetic implications of double primary cancers of the colorectum and endometrium. |
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Journal of Medical Genetics,
Volume 35,
Issue 12,
1998,
Page 978-984
TPal,
TFlanders,
MMitchell-Lehman,
AMacMillan,
J SBrunet,
S ANarod,
W DFoulkes,
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PDF (1234KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1998
数据来源: BMJ
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| 4. |
Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM). |
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Journal of Medical Genetics,
Volume 35,
Issue 12,
1998,
Page 985-988
G CBlack,
RPerveen,
EHatchwell,
AReck,
JClayton-Smith,
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PDF (793KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1998
数据来源: BMJ
|
| 5. |
Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma. |
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Journal of Medical Genetics,
Volume 35,
Issue 12,
1998,
Page 989-992
DStoilova,
AChild,
GBrice,
TDesai,
MBarsoum-Homsy,
NOzdemir,
LChevrette,
M FAdam,
H JGarchon,
RPitts Crick,
MSarfarazi,
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PDF (773KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1998
数据来源: BMJ
|
| 6. |
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. |
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Journal of Medical Genetics,
Volume 35,
Issue 12,
1998,
Page 993-996
S WKnight,
T JVulliamy,
N SHeiss,
GMatthijs,
KDevriendt,
J MConnor,
MD'Urso,
APoustka,
P JMason,
IDokal,
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PDF (898KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1998
数据来源: BMJ
|
| 7. |
Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28. |
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Journal of Medical Genetics,
Volume 35,
Issue 12,
1998,
Page 997-1003
TWebb,
AClarke,
FHanefeld,
J LPereira,
LRosenbloom,
C GWoods,
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PDF (1267KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1998
数据来源: BMJ
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| 8. |
Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata. |
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Journal of Medical Genetics,
Volume 35,
Issue 12,
1998,
Page 1004-1008
L JSheffield,
A HOsborn,
W MHutchison,
D OSillence,
S MForrest,
S JWhite,
H HDahl,
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PDF (901KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1998
数据来源: BMJ
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| 9. |
The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy. |
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Journal of Medical Genetics,
Volume 35,
Issue 12,
1998,
Page 1009-1013
Rde Franchis,
ABuoninconti,
CMandato,
APepe,
M PSperandeo,
RDel Gado,
VCapra,
ESalvaggio,
GAndria,
PMastroiacovo,
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PDF (943KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1998
数据来源: BMJ
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| 10. |
Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease. |
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Journal of Medical Genetics,
Volume 35,
Issue 12,
1998,
Page 1014-1019
A ULópez-Gutiérrez,
LRiba,
M LOrdoñez-Sánchez,
SRamírez-Jiménez,
MCerrillo-Hinojosa,
M TTusié-Luna,
Preview
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PDF (1144KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1998
数据来源: BMJ
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