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| 1. |
No evidence for mosaicism in Silver-Russell syndrome |
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Journal of Medical Genetics,
Volume 38,
Issue 4,
2001,
Page 11-11
DAVIDMONK,
MEGANHITCHINS,
SILVIARUSSO,
MICHAELPREECE,
PHILIPSTANIER,
GUDRUN EMOORE,
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 2. |
New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles |
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Journal of Medical Genetics,
Volume 38,
Issue 4,
2001,
Page 12-12
ANNEKEMAAT-KIEVIT,
MONIQUELOSEKOOT,
HANNEKE VAN DEN BOER-VANDEN BERG,
GERT-JANVAN OMMEN,
MARTINUSNIERMEIJER,
MARTIJNBREUNING,
AADTIBBEN,
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PDF (168KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 3. |
Rett syndrome and theMECP2gene |
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Journal of Medical Genetics,
Volume 38,
Issue 4,
2001,
Page 217-223
TessaWebb,
FaridaLatif,
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PDF (223KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 4. |
Angelman syndrome phenotype associated with mutations inMECP2, a gene encoding a methyl CpG binding protein |
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Journal of Medical Genetics,
Volume 38,
Issue 4,
2001,
Page 224-228
PamelaWatson,
GraemeBlack,
SimonRamsden,
MargaretBarrow,
MauriceSuper,
BronwynKerr,
JillClayton-Smith,
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PDF (182KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 5. |
Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment |
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Journal of Medical Genetics,
Volume 38,
Issue 4,
2001,
Page 229-231
T PHutchin,
K RThompson,
MParker,
VNewton,
MBitner-Glindzicz,
R FMueller,
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PDF (108KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 6. |
Genetic association of anLBP-1c/CP2/LSFgene polymorphism with late onset Alzheimer's disease |
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Journal of Medical Genetics,
Volume 38,
Issue 4,
2001,
Page 232-233
Alison ETaylor,
AgustinYip,
CarolBrayne,
DouglasEaston,
John GrimleyEvans,
JohnXuereb,
NigelCairns,
Margaret MEsiri,
David CRubinsztein,
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PDF (156KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 7. |
A polymorphism in the gene for microsomal epoxide hydrolase is associated with pre-eclampsia |
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Journal of Medical Genetics,
Volume 38,
Issue 4,
2001,
Page 234-237
Petra L MZusterzeel,
Wilbert H MPeters,
WillyVisser,
Kristel J MHermsen,
Hennie M JRoelofs,
Eric A PSteegers,
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PDF (204KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 8. |
Autosomal dominant polycystic kidney disease unlinked to thePKD1andPKD2loci presenting as familial cerebral aneurysm |
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Journal of Medical Genetics,
Volume 38,
Issue 4,
2001,
Page 238-240
R SMCCONNELL,
D CRUBINSZTEIN,
T FFANNIN,
C SMCKINSTRY,
BKELLY,
I CBAILEY,
A EHUGHES,
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 9. |
Detection of heterozygousSMN1deletions in SMA families using a simple fluorescent multiplex PCR method |
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Journal of Medical Genetics,
Volume 38,
Issue 4,
2001,
Page 240-243
PASCALESAUGIER-VEBER,
NATHALIEDROUOT,
SUZIELEFEBVRE,
FRANÇOISECHARBONNIER,
ELODIEVIAL,
ARNOLDMUNNICH,
THIERRYFRÉBOURG,
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 10. |
Low prevalence ofSPINK1gene mutations in adult patients with chronic idiopathic pancreatitis |
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Journal of Medical Genetics,
Volume 38,
Issue 4,
2001,
Page 243-244
JOHANNOCKENGA,
THILODÖRK,
MANFREDSTUHRMANN,
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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