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| 1. |
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations |
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Journal of Medical Genetics,
Volume 45,
Issue 10,
2008,
Page 609-621
SFaghri,
DTamura,
K HKraemer,
J JDiGiovanna,
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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. |
Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes? |
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Journal of Medical Genetics,
Volume 45,
Issue 10,
2008,
Page 622-631
HKehrer-Sawatzki,
D NCooper,
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PDF (292KB)
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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. |
Is genetics inhumane? |
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Journal of Medical Genetics,
Volume 45,
Issue 10,
2008,
Page 632-634
ArnoldMunnich,
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PDF (94KB)
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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. |
Congenital heart disease is a feature of severe infantile spinal muscular atrophy |
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Journal of Medical Genetics,
Volume 45,
Issue 10,
2008,
Page 635-638
SRudnik-Schöneborn,
RHeller,
CBerg,
CBetzler,
TGrimm,
TEggermann,
KEggermann,
RWirth,
BWirth,
KZerres,
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PDF (223KB)
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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. |
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients |
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Journal of Medical Genetics,
Volume 45,
Issue 10,
2008,
Page 639-646
ABotta,
FRinaldi,
CCatalli,
LVergani,
EBonifazi,
VRomeo,
ELoro,
AViola,
CAngelini,
GNovelli,
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PDF (842KB)
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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. |
Refinement of cortical dysgeneses spectrum associated withTUBA1Amutations |
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Journal of Medical Genetics,
Volume 45,
Issue 10,
2008,
Page 647-653
NBahi-Buisson,
KPoirier,
NBoddaert,
YSaillour,
LCastelnau,
NPhilip,
GBuyse,
LVillard,
SJoriot,
SMarret,
MBourgeois,
HVan Esch,
LLagae,
JAmiel,
LHertz-Pannier,
ARoubertie,
FRivier,
J MPinard,
CBeldjord,
JChelly,
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PDF (927KB)
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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 genome-wide association study identifies an association of a common variant inTERTwith susceptibility to idiopathic pulmonary fibrosis |
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Journal of Medical Genetics,
Volume 45,
Issue 10,
2008,
Page 654-656
TMushiroda,
SWattanapokayakit,
ATakahashi,
TNukiwa,
SKudoh,
TOgura,
HTaniguchi,
MKubo,
NKamatani,
YNakamura,
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PDF (307KB)
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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. |
Contribution ofPTENlarge rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach |
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Journal of Medical Genetics,
Volume 45,
Issue 10,
2008,
Page 657-665
FChibon,
CPrimois,
J-MBressieux,
DLacombe,
CLok,
LMauriac,
ATaieb,
MLongy,
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PDF (1293KB)
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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. |
Heart–hand syndrome of Slovenian type: a new kind of laminopathy |
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Journal of Medical Genetics,
Volume 45,
Issue 10,
2008,
Page 666-671
LRenou,
SStora,
R BenYaou,
MVolk,
MŠinkovec,
LDemay,
PRichard,
BPeterlin,
GBonne,
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PDF (588KB)
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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. |
Mapping of 5q35 chromosomal rearrangements within a genomically unstable region |
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Journal of Medical Genetics,
Volume 45,
Issue 10,
2008,
Page 672-678
KBuysse,
ACrepel,
BMenten,
FPattyn,
FAntonacci,
J AVeltman,
L ALarsen,
ZTümer,
Ade Klein,
Ivan de Laar,
KDevriendt,
GMortier,
FSpeleman,
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PDF (727KB)
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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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