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| 1. |
Hirschsprung disease, associated syndromes and genetics: a review |
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Journal of Medical Genetics,
Volume 45,
Issue 1,
2008,
Page 1-14
JAmiel,
ESproat-Emison,
MGarcia-Barcelo,
FLantieri,
GBurzynski,
SBorrego,
APelet,
SArnold,
XMiao,
PGriseri,
A SBrooks,
GAntinolo,
Lde Pontual,
MClement-Ziza,
AMunnich,
CKashuk,
KWest,
K K-YWong,
SLyonnet,
AChakravarti,
P K-HTam,
ICeccherini,
R M WHofstra,
RFernandez,
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PDF (281KB)
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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. |
Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations |
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Journal of Medical Genetics,
Volume 45,
Issue 1,
2008,
Page 15-21
ATrizzino,
U zurStadt,
IUeda,
KRisma,
GJanka,
EIshii,
KBeutel,
JSumegi,
SCannella,
DPende,
AMian,
J-IHenter,
GGriffiths,
ASantoro,
AFilipovich,
MAricò,
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PDF (299KB)
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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. |
Genetic risk for metabolic syndrome: examination of candidate gene polymorphisms related to lipid metabolism in Japanese people |
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Journal of Medical Genetics,
Volume 45,
Issue 1,
2008,
Page 22-28
YYamada,
SIchihara,
KKato,
TYoshida,
KYokoi,
HMatsuo,
SWatanabe,
NMetoki,
HYoshida,
KSatoh,
YAoyagi,
AYasunaga,
HPark,
MTanaka,
WLee,
YNozawa,
Preview
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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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| 4. |
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells |
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Journal of Medical Genetics,
Volume 45,
Issue 1,
2008,
Page 29-31
CAngelozzi,
FBorgo,
F DTiziano,
AMartella,
GNeri,
CBrahe,
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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. |
Heterozygous deletion ofITPR1, but notSUMF1, in spinocerebellar ataxia type 16 |
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Journal of Medical Genetics,
Volume 45,
Issue 1,
2008,
Page 32-35
AIwaki,
YKawano,
SMiura,
HShibata,
DMatsuse,
WLi,
HFuruya,
YOhyagi,
TTaniwaki,
JKira,
YFukumaki,
Preview
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PDF (206KB)
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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. |
Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts |
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Journal of Medical Genetics,
Volume 45,
Issue 1,
2008,
Page 36-42
B LBrowning,
VAnnese,
M LBarclay,
S ABingham,
SBrand,
CBüning,
MCastro,
SCucchiara,
BDallapiccola,
HDrummond,
L RFerguson,
AFerraris,
S AFisher,
R BGearry,
JGlas,
LHenckaerts,
CHuebner,
DKnafelz,
LLakatos,
P LLakatos,
ALatiano,
XLiu,
CMathew,
BMüller-Myhsok,
W GNewman,
E RNimmo,
C LNoble,
OPalmieri,
MParkes,
IPetermann,
PRutgeerts,
JSatsangi,
A NShelling,
K ASiminovitch,
H-PTörök,
MTremelling,
SVermeire,
M RValvano,
HWitt,
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PDF (371KB)
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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. |
Rare heterozygousparkinvariants in French early-onset Parkinson disease patients and controls |
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Journal of Medical Genetics,
Volume 45,
Issue 1,
2008,
Page 43-46
SLesage,
ELohmann,
FTison,
FDurif,
ADürr,
ABrice,
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PDF (156KB)
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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. |
Diversity of the basic defect of homozygousCFTRmutation genotypes in humans |
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Journal of Medical Genetics,
Volume 45,
Issue 1,
2008,
Page 47-54
FStanke,
MBallmann,
IBronsveld,
TDörk,
SGallati,
ULaabs,
NDerichs,
MRitzka,
H-GPosselt,
H KHarms,
MGriese,
HBlau,
GMastella,
JBijman,
HVeeze,
BTümmler,
Preview
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PDF (240KB)
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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. |
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations |
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Journal of Medical Genetics,
Volume 45,
Issue 1,
2008,
Page 55-61
H A LTuppen,
FFattori,
RCarrozzo,
MZeviani,
SDiMauro,
SSeneca,
J EMartindale,
S EOlpin,
E PTreacy,
RMcFarland,
F MSantorelli,
R WTaylor,
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PDF (590KB)
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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. |
BRCA2: a cause of Li–Fraumeni-like syndrome |
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Journal of Medical Genetics,
Volume 45,
Issue 1,
2008,
Page 62-63
D GEvans,
C LWu,
J MBirch,
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PDF (173KB)
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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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Volume 45 issue 1