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| 1. |
Recent advances in the molecular pathology, cell biology and genetics of ciliopathies |
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Journal of Medical Genetics,
Volume 45,
Issue 5,
2008,
Page 257-267
MAdams,
U MSmith,
C VLogan,
C AJohnson,
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 2. |
Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform |
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Journal of Medical Genetics,
Volume 45,
Issue 5,
2008,
Page 268-274
EAston,
HWhitby,
TMaxwell,
NGlaus,
BCowley,
DLowry,
X LZhu,
BIssa,
S TSouth,
A RBrothman,
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PDF (1497KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 3. |
Genome-wide linkage scan for maximum and length-dependent knee muscle strength in young men: significant evidence for linkage at chromosome 14q24.3 |
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Journal of Medical Genetics,
Volume 45,
Issue 5,
2008,
Page 275-283
GDe Mars,
AWindelinckx,
WHuygens,
M WPeeters,
G PBeunen,
JAerssens,
RVlietinck,
M A IThomis,
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PDF (419KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 4. |
CDKN2Amutations and melanoma risk in the Icelandic population |
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Journal of Medical Genetics,
Volume 45,
Issue 5,
2008,
Page 284-289
A MGoldstein,
S NStacey,
J HOlafsson,
G FJonsson,
AHelgason,
PSulem,
BSigurgeirsson,
K RBenediktsdottir,
KThorisdottir,
RRagnarsson,
JKjartansson,
JKostic,
GMasson,
KKristjansson,
J RGulcher,
AKong,
UThorsteinsdottir,
TRafnar,
M ATucker,
KStefansson,
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PDF (211KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 5. |
Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery |
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Journal of Medical Genetics,
Volume 45,
Issue 5,
2008,
Page 290-297
E GAllen,
JJuncos,
RLetz,
MRusin,
DHamilton,
GNovak,
LShubeck,
S WTinker,
S LSherman,
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PDF (238KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 6. |
CYLDmutations in familial skin appendage tumours |
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Journal of Medical Genetics,
Volume 45,
Issue 5,
2008,
Page 298-302
SSaggar,
K AChernoff,
SLodha,
LHorev,
SKohl,
R SHonjo,
H R CBrandt,
KHartmann,
J TCelebi,
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PDF (575KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 7. |
A missense mutation inPTCH2underlies dominantly inherited NBCCS in a Chinese family |
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Journal of Medical Genetics,
Volume 45,
Issue 5,
2008,
Page 303-308
ZFan,
JLi,
JDu,
HZhang,
YShen,
C-YWang,
SWang,
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PDF (1061KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 8. |
Comparison of X-chromosome inactivation patterns in multiple tissues from human females |
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Journal of Medical Genetics,
Volume 45,
Issue 5,
2008,
Page 309-313
D CBittel,
M FTheodoro,
NKibiryeva,
WFischer,
ZTalebizadeh,
M GButler,
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PDF (228KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 9. |
Deletion ofC2orf34,PREPLandSLC3A1causes atypical hypotonia–cystinuria syndrome |
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Journal of Medical Genetics,
Volume 45,
Issue 5,
2008,
Page 314-318
BChabrol,
KMartens,
SMeulemans,
ACano,
JJaeken,
GMatthijs,
J W MCreemers,
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PDF (273KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 10. |
Response to Stensonet alon the review of general mutation databases |
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Journal of Medical Genetics,
Volume 45,
Issue 5,
2008,
Page 319-320
R AGeorge,
T DSmith,
SCallaghan,
LHardman,
CPierides,
OHoraitis,
M AWouters,
R G HCotton,
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PDF (88KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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