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| 1. |
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes |
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Journal of Medical Genetics,
Volume 44,
Issue 11,
2007,
Page 673-688
Pde Bie,
PMuller,
CWijmenga,
L W JKlomp,
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ISSN:0022-2593
出版商:J Med Genet
年代:2007
数据来源: BMJ
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| 2. |
Estimating risks of common complex diseases across genetic and environmental factors: the example of Crohn disease |
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Journal of Medical Genetics,
Volume 44,
Issue 11,
2007,
Page 689-694
C MLewis,
S C LWhitwell,
AForbes,
JSanderson,
C GMathew,
T MMarteau,
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PDF (221KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2007
数据来源: BMJ
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| 3. |
Factors associated withHDCAG repeat instability in Huntington disease |
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Journal of Medical Genetics,
Volume 44,
Issue 11,
2007,
Page 695-701
V CWheeler,
FPersichetti,
S MMcNeil,
J SMysore,
S SMysore,
M EMacDonald,
R HMyers,
J FGusella,
N SWexler,
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PDF (231KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2007
数据来源: BMJ
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| 4. |
High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome |
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Journal of Medical Genetics,
Volume 44,
Issue 11,
2007,
Page 702-709
SAretz,
DStienen,
SUhlhaas,
MStolte,
M MEntius,
SLoff,
WBack,
AKaufmann,
K-MKeller,
S HBlaas,
RSiebert,
SVogt,
SSpranger,
EHolinski-Feder,
LSunde,
PPropping,
WFriedl,
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PDF (523KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2007
数据来源: BMJ
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| 5. |
A genome-wide scan for genes involved in primary vesicoureteric reflux |
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Journal of Medical Genetics,
Volume 44,
Issue 11,
2007,
Page 710-717
HKelly,
C MMolony,
J MDarlow,
M EPirker,
AYoneda,
A JGreen,
PPuri,
D EBarton,
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PDF (455KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2007
数据来源: BMJ
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| 6. |
Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease |
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Journal of Medical Genetics,
Volume 44,
Issue 11,
2007,
Page 718-720
PVahteristo,
AKokko,
OSaksela,
KAittomäki,
L AAaltonen,
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PDF (153KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2007
数据来源: BMJ
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| 7. |
A novel hearing loss-related mutation occurring in theGJB2basal promoter |
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Journal of Medical Genetics,
Volume 44,
Issue 11,
2007,
Page 721-725
T DMatos,
HCaria,
HSimões-Teixeira,
TAasen,
RNickel,
D JJagger,
AO’Neill,
D PKelsell,
GFialho,
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PDF (654KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2007
数据来源: BMJ
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| 8. |
Germline E-cadherin mutations in familial lobular breast cancer |
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Journal of Medical Genetics,
Volume 44,
Issue 11,
2007,
Page 726-731
SMasciari,
NLarsson,
JSenz,
NBoyd,
PKaurah,
M JKandel,
L NHarris,
H CPinheiro,
ATroussard,
PMiron,
NTung,
COliveira,
LCollins,
SSchnitt,
J EGarber,
DHuntsman,
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PDF (760KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2007
数据来源: BMJ
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| 9. |
Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing |
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Journal of Medical Genetics,
Volume 44,
Issue 11,
2007,
Page 732-738
KAktan-Collan,
AHaukkala,
KPylvänäinen,
H JJärvinen,
L AAaltonen,
PPeltomäki,
ERantanen,
HKääriäinen,
J-PMecklin,
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PDF (242KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2007
数据来源: BMJ
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| 10. |
Mutations in theAP1S2gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia |
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Journal of Medical Genetics,
Volume 44,
Issue 11,
2007,
Page 739-744
YSaillour,
GZanni,
VDes Portes,
DHeron,
LGuibaud,
M TIba-Zizen,
J LPedespan,
KPoirier,
LCastelnau,
CJulien,
CFranconnet,
DBonthron,
M EPorteous,
JChelly,
TBienvenu,
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PDF (518KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2007
数据来源: BMJ
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