|
|
| 1. |
Array comparative genomic hybridisation on first polar bodies suggests that non-disjunction is not the predominant mechanism leading to aneuploidy in humans |
| |
Journal of Medical Genetics,
Volume 48,
Issue 7,
2011,
Page 433-437
A SGabriel,
A RThornhill,
C SOttolini,
AGordon,
A P CBrown,
JTaylor,
KBennett,
AHandyside,
D KGriffin,
Preview
|
PDF (622KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2011
数据来源: BMJ
|
| 2. |
Replacement of the myotonic dystrophy type 1 CTG repeat with ‘non-CTG repeat’ insertions in specific tissues |
| |
Journal of Medical Genetics,
Volume 48,
Issue 7,
2011,
Page 438-443
Michelle MAxford,
ArturoLópez-Castel,
MasayukiNakamori,
Charles AThornton,
Christopher EPearson,
Preview
|
PDF (788KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2011
数据来源: BMJ
|
| 3. |
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population |
| |
Journal of Medical Genetics,
Volume 48,
Issue 7,
2011,
Page 444-449
Mary LMcMaster,
Alisa MGoldstein,
Dilys MParry,
Preview
|
PDF (225KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2011
数据来源: BMJ
|
| 4. |
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa |
| |
Journal of Medical Genetics,
Volume 48,
Issue 7,
2011,
Page 450-457
DimitraKiritsi,
Johannes SKern,
HaukeSchumann,
JürgenKohlhase,
CristinaHas,
LeenaBruckner-Tuderman,
Preview
|
PDF (986KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2011
数据来源: BMJ
|
| 5. |
Gastrointestinal polyps in McCune Albright syndrome |
| |
Journal of Medical Genetics,
Volume 48,
Issue 7,
2011,
Page 458-461
MargaretZacharin,
AnuragBajpai,
Chung WoChow,
AnthonyCatto-Smith,
ConstantineStratakis,
Michelle WWong,
RodneyScott,
Preview
|
PDF (212KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2011
数据来源: BMJ
|
| 6. |
MEIS1andBTBD9: genetic association with restless leg syndrome in end stage renal disease |
| |
Journal of Medical Genetics,
Volume 48,
Issue 7,
2011,
Page 462-466
BarbaraSchormair,
JensPlag,
MariaKaffe,
NadineGroß,
DarinaCzamara,
WalterSamtleben,
PeterLichtner,
AndreasStröhle,
IoannisStefanidis,
AndreasVainas,
EfthimiosDardiotis,
George KSakkas,
ChristianGieger,
BertramMüller-Myhsok,
ThomasMeitinger,
UweHeemann,
Georgios MHadjigeorgiou,
KonradOexle,
JulianeWinkelmann,
Preview
|
PDF (109KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2011
数据来源: BMJ
|
| 7. |
Genome-wide linkage and association mapping identify susceptibility alleles inABCC4for Kawasaki disease |
| |
Journal of Medical Genetics,
Volume 48,
Issue 7,
2011,
Page 467-472
Chiea ChuenKhor,
SoniaDavila,
ChisatoShimizu,
StephanieSheng,
TomoyoMatsubara,
YasuoSuzuki,
Jane WNewburger,
AnnetteBaker,
DavidBurgner,
WillemijnBreunis,
TacoKuijpers,
Victoria JWright,
MichaelLevin,
Martin LHibberd,
Jane CBurns,
Preview
|
PDF (310KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2011
数据来源: BMJ
|
| 8. |
Variants in or nearKITLG,BAK1,DMRT1, andTERT-CLPTM1Lpredispose to familial testicular germ cell tumour |
| |
Journal of Medical Genetics,
Volume 48,
Issue 7,
2011,
Page 473-476
Christian PKratz,
Summer SHan,
Philip SRosenberg,
Sonja IBerndt,
LaurieBurdett,
MeredithYeager,
Larissa AKorde,
Phuong LMai,
RuthPfeiffer,
Mark HGreene,
Preview
|
PDF (439KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2011
数据来源: BMJ
|
| 9. |
A role for XRCC2 gene polymorphisms in breast cancer risk and survival |
| |
Journal of Medical Genetics,
Volume 48,
Issue 7,
2011,
Page 477-484
Wei-YuLin,
Nicola JCamp,
Lisa ACannon-Albright,
KristinaAllen-Brady,
SabapathyBalasubramanian,
Malcolm W RReed,
John LHopper,
CarmelApicella,
Graham GGiles,
Melissa CSouthey,
Roger LMilne,
Jose IArias-Pérez,
PrimitivaMenéndez-Rodríguez,
JavierBenítez,
MagdalenaGrundmann,
NataliaDubrowinskaja,
Tjoung-WonPark-Simon,
ThiloDörk,
MontserratGarcia-Closas,
JonineFigueroa,
MarkSherman,
JolantaLissowska,
Douglas FEaston,
Alison MDunning,
PreethaRajaraman,
Alice JSigurdson,
Michele MDoody,
Martha SLinet,
Paul DPharoah,
Marjanka KSchmidt,
AngelaCox,
Preview
|
PDF (369KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2011
数据来源: BMJ
|
| 10. |
Association of HLA class I markers with multiple sclerosis in the Italian and UK population: evidence of two independent protective effects |
| |
Journal of Medical Genetics,
Volume 48,
Issue 7,
2011,
Page 485-492
LauraBergamaschi,
MariaBan,
NadiaBarizzone,
MaurizioLeone,
DanielaFerrante,
Maria EdvigeFasano,
Franca RGuerini,
LuciaCorrado,
PaolaNaldi,
EnniaDametto,
CristinaAgliardi,
MarcoSalvetti,
RosellaMechelli,
DanielaGalimberti,
ElioScarpini,
PaolaCavalla,
ValeriaBargiggia,
DomenicoCaputo,
SusannaCordera,
FrancescoMonaco,
PatriciaMomigliano-Richiardi,
SandraD'Alfonso,
Preview
|
PDF (220KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2011
数据来源: BMJ
|
|
首页
