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| 1. |
Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies |
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Journal of Medical Genetics,
Volume 43,
Issue 4,
2006,
Page 14-14
ERudd,
KGöransdotter Ericson,
CZheng,
ZUysal,
AÖzkan,
AGürgey,
BFadeel,
MNordenskjöld,
J-IHenter,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 2. |
ExonicSTK11deletions are not a rare cause of Peutz-Jeghers syndrome |
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Journal of Medical Genetics,
Volume 43,
Issue 4,
2006,
Page 15-15
N C MHearle,
M FRudd,
WLim,
VMurday,
A GLim,
R KPhillips,
P WLee,
JO’Donohue,
P JMorrison,
ANorman,
S VHodgson,
ALucassen,
R SHoulston,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 3. |
Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome |
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Journal of Medical Genetics,
Volume 43,
Issue 4,
2006,
Page 16-16
X(R) Yang,
R MPfeiffer,
A MGoldstein,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 4. |
Association of susceptibility to the development of pneumonia in the older Japanese population with haem oxygenase-1 gene promoter polymorphism |
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Journal of Medical Genetics,
Volume 43,
Issue 4,
2006,
Page 17-17
HYasuda,
SOkinaga,
MYamaya,
TOhrui,
MHiguchi,
MShinkawa,
SItabashi,
KNakayama,
MAsada,
AKikuchi,
SShibahara,
HSasaki,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 5. |
Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes |
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Journal of Medical Genetics,
Volume 43,
Issue 4,
2006,
Page 289-294
D G REvans,
J MBirch,
R TRamsden,
SSharif,
M EBaser,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 6. |
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral |
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Journal of Medical Genetics,
Volume 43,
Issue 4,
2006,
Page 295-305
S VTavtigian,
A MDeffenbaugh,
LYin,
TJudkins,
TScholl,
P BSamollow,
Dde Silva,
AZharkikh,
AThomas,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 7. |
CHARGE syndrome: the phenotypic spectrum of mutations in theCHD7gene |
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Journal of Medical Genetics,
Volume 43,
Issue 4,
2006,
Page 306-314
M C JJongmans,
R JAdmiraal,
K Pvan der Donk,
L E L MVissers,
A FBaas,
LKapusta,
J Mvan Hagen,
DDonnai,
T Jde Ravel,
J AVeltman,
AGeurts van Kessel,
B B ADe Vries,
H GBrunner,
L HHoefsloot,
C M Avan Ravenswaaij,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 8. |
Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment |
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Journal of Medical Genetics,
Volume 43,
Issue 4,
2006,
Page 315-325
ADel Fattore,
BPeruzzi,
NRucci,
IRecchia,
ACappariello,
MLongo,
DFortunati,
PBallanti,
MIacobini,
MLuciani,
RDevito,
RPinto,
MCaniglia,
ELanino,
CMessina,
SCesaro,
CLetizia,
GBianchini,
HFryssira,
PGrabowski,
NShaw,
NBishop,
DHughes,
R PKapur,
H KDatta,
ATaranta,
RFornari,
SMigliaccio,
ATeti,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 9. |
RPGRis mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa |
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Journal of Medical Genetics,
Volume 43,
Issue 4,
2006,
Page 326-333
AMoore,
EEscudier,
GRoger,
ATamalet,
BPelosse,
SMarlin,
AClément,
MGeremek,
BDelaisi,
A-MBridoux,
ACoste,
MWitt,
BDuriez,
SAmselem,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 10. |
AHI1mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome |
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Journal of Medical Genetics,
Volume 43,
Issue 4,
2006,
Page 334-339
M AParisi,
DDoherty,
M LEckert,
D W WShaw,
HOzyurek,
SAysun,
OGiray,
AAl Swaid,
SAl Shahwan,
NDohayan,
EBakhsh,
O SIndridason,
W BDobyns,
C LBennett,
P FChance,
I AGlass,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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