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| 1. |
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist |
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Journal of Medical Genetics,
Volume 46,
Issue 1,
2009,
Page 1-8
CLintas,
A MPersico,
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ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
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| 2. |
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome |
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Journal of Medical Genetics,
Volume 46,
Issue 1,
2009,
Page 9-13
M JLyons,
J MGraham,
GNeri,
A G WHunter,
R DClark,
R CRogers,
MMoscarda,
LBoccuto,
RSimensen,
JDodd,
SRobertson,
B RDuPont,
M JFriez,
C ESchwartz,
R EStevenson,
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PDF (464KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
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| 3. |
Mutation in theHPGDgene encoding NAD+dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC) |
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Journal of Medical Genetics,
Volume 46,
Issue 1,
2009,
Page 14-20
MTariq,
ZAzeem,
GAli,
M SChishti,
WAhmad,
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PDF (627KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
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| 4. |
Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background |
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Journal of Medical Genetics,
Volume 46,
Issue 1,
2009,
Page 21-31
CKrausz,
CGiachini,
YXue,
M KO’Bryan,
JGromoll,
E Rajpert-deMeyts,
ROliva,
IAknin-Seifer,
EErdei,
NJorgensen,
MSimoni,
J LBallescà,
RLevy,
GBalercia,
PPiomboni,
ENieschlag,
GForti,
RMcLachlan,
CTyler-Smith,
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PDF (671KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
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| 5. |
Functional polymorphisms in theBRCA1promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women |
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Journal of Medical Genetics,
Volume 46,
Issue 1,
2009,
Page 32-39
K Y-KChan,
WLiu,
J-RLong,
S-PYip,
S-YChan,
X-OShu,
D T-TChua,
A N-YCheung,
J C-YChing,
HCai,
G K-HAu,
MChan,
WFoo,
H Y-SNgan,
Y-TGao,
E S-WNgan,
M-MGarcia-Barceló,
WeiZheng,
U-SKhoo,
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PDF (379KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
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| 6. |
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy |
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Journal of Medical Genetics,
Volume 46,
Issue 1,
2009,
Page 40-48
DAraújo-Vilar,
GLattanzi,
BGonzález-Méndez,
A TCosta-Freitas,
DPrieto,
MColumbaro,
EMattioli,
BVictoria,
NMartínez-Sánchez,
ARamazanova,
MFraga,
ABeiras,
JForteza,
LDomínguez-Gerpe,
CCalvo,
JLado-Abeal,
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PDF (729KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
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| 7. |
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation |
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Journal of Medical Genetics,
Volume 46,
Issue 1,
2009,
Page 49-59
L IElizondo,
K SCho,
WZhang,
JYan,
CHuang,
YHuang,
KChoi,
E ASloan,
KDeguchi,
SLou,
ABaradaran-Heravi,
HTakashima,
TLücke,
F AQuiocho,
C FBoerkoel,
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PDF (4531KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
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| 8. |
Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease |
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Journal of Medical Genetics,
Volume 46,
Issue 1,
2009,
Page 60-63
JRomanos,
DBarisani,
GTrynka,
AZhernakova,
M TBardella,
CWijmenga,
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PDF (173KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
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| 9. |
NARP syndrome in a patient harbouring an insertion in theMT-ATP6gene that results in a truncated protein |
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Journal of Medical Genetics,
Volume 46,
Issue 1,
2009,
Page 64-67
ELópez-Gallardo,
ASolano,
M DHerrero-Martín,
ÍMartínez-Romero,
M DCastaño-Pérez,
A LAndreu,
AHerrera,
M JLópez-Pérez,
ERuiz-Pesini,
JMontoya,
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PDF (911KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
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| 10. |
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication inSMARCB1 |
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Journal of Medical Genetics,
Volume 46,
Issue 1,
2009,
Page 68-72
J JSwensen,
JKeyser,
C MCoffin,
J ABiegel,
D HViskochil,
M SWilliams,
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PDF (1528KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
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