|
|
| 1. |
Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study |
| |
Journal of Medical Genetics,
Volume 44,
Issue 3,
2007,
Page 68-68
Oliver W JQuarrell,
Alan SRigby,
LBarron,
YCrow,
ADalton,
NDennis,
A EFryer,
FHeydon,
EKinning,
ALashwood,
MLosekoot,
LMargerison,
SMcDonnell,
P JMorrison,
ANorman,
MPeterson,
F LRaymond,
SSimpson,
EThompson,
JWarner,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
|
| 2. |
Genomic deletion withinGLDCis a major cause of non-ketotic hyperglycinaemia |
| |
Journal of Medical Genetics,
Volume 44,
Issue 3,
2007,
Page 69-69
JunkoKanno,
TimHutchin,
FumiakiKamada,
AyumiNarisawa,
YokoAoki,
YoichiMatsubara,
ShigeoKure,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
|
| 3. |
NewVMD2gene mutations identified in patients affected by Best vitelliform macular dystrophy |
| |
Journal of Medical Genetics,
Volume 44,
Issue 3,
2007,
Page 70-70
DMarchant,
KYu,
KBigot,
ORoche,
AGermain,
DBonneau,
VDrouin-Garraud,
D FSchorderet,
FMunier,
DSchmidt,
PLe Neindre,
CMarsac,
MMenasche,
J LDufier,
RFischmeister,
CHartzell,
MAbitbol,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
|
| 4. |
MYO7Amutation screening in Usher syndrome type I patients from diverse origins |
| |
Journal of Medical Genetics,
Volume 44,
Issue 3,
2007,
Page 71-71
TJaijo,
EAller,
MBeneyto,
CNajera,
CGraziano,
DTurchetti,
MSeri,
CAyuso,
MBaiget,
FMoreno,
CMorera,
HPerez-Garrigues,
J MMillan,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
|
| 5. |
Challenges in the phenotypic characterisation of patients in genetic studies of coronary artery disease |
| |
Journal of Medical Genetics,
Volume 44,
Issue 3,
2007,
Page 161-165
Albert KLuo,
Brian KJefferson,
Mario JGarcia,
Geoffrey SGinsburg,
Eric JTopol,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
|
| 6. |
Somatic mutations of the epidermal growth factor receptor and non-small-cell lung cancer |
| |
Journal of Medical Genetics,
Volume 44,
Issue 3,
2007,
Page 166-172
XiaozhuZhang,
AlexChang,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
|
| 7. |
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA) |
| |
Journal of Medical Genetics,
Volume 44,
Issue 3,
2007,
Page 173-180
ErikaFernandez-Vizarra,
AngelaBerardinelli,
LuciaValente,
ValeriaTiranti,
MassimoZeviani,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
|
| 8. |
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes |
| |
Journal of Medical Genetics,
Volume 44,
Issue 3,
2007,
Page 181-192
RoslynVarki,
SaraSadowski,
JouniUitto,
EllenPfendner,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
|
| 9. |
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome |
| |
Journal of Medical Genetics,
Volume 44,
Issue 3,
2007,
Page 193-199
AudeServais,
VéroniqueFrémeaux-Bacchi,
MoglieLequintrec,
RémiSalomon,
JacquesBlouin,
BertrandKnebelmann,
Jean-PierreGrünfeld,
PhilippeLesavre,
Laure-HélèneNoël,
FadiFakhouri,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
|
| 10. |
Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats |
| |
Journal of Medical Genetics,
Volume 44,
Issue 3,
2007,
Page 200-204
Danuta ZLoesch,
Quang MBui,
Richard MHuggins,
Robert JMitchell,
Randi JHagerman,
FloraTassone,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
|
|
首页
