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| 1. |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling |
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Journal of Medical Genetics,
Volume 42,
Issue 10,
2005,
Page 59-59
JIngles,
ADoolan,
CChiu,
JSeidman,
CSeidman,
CSemsarian,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 2. |
Phenylketonuria screening registry as a resource for population genetic studies |
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Journal of Medical Genetics,
Volume 42,
Issue 10,
2005,
Page 60-60
UHannelius,
C MLindgren,
EMelén,
AMalmberg,
Uvon Dobeln,
JKere,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 3. |
Mutation ofCOL11A2causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus |
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Journal of Medical Genetics,
Volume 42,
Issue 10,
2005,
Page 61-61
WChen,
KKahrizi,
N CMeyer,
YRiazalhosseini,
GVan Camp,
HNajmabadi,
R J HSmith,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 4. |
Polymorphisms of UDP-glucuronosyltransferase1A7are not involved in pancreatic diseases |
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Journal of Medical Genetics,
Volume 42,
Issue 10,
2005,
Page 62-62
MVerlaan,
J P HDrenth,
KTruninger,
MKoudova,
H-USchulz,
MBargetzi,
BKünzli,
HFriess,
MCerny,
AKage,
OLandt,
R H Mte Morsche,
JRosendahl,
WLuck,
RNickel,
JHalangk,
MBecker,
MMacek,
J B M JJansen,
HWitt,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 5. |
Multi-exon deletions of thePKHD1gene cause autosomal recessive polycystic kidney disease (ARPKD) |
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Journal of Medical Genetics,
Volume 42,
Issue 10,
2005,
Page 63-63
CBergmann,
FKüpper,
C PSchmitt,
UVester,
T JNeuhaus,
JSenderek,
KZerres,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 6. |
Large genomic deletions inactivate the BRCA2 gene in breast cancer families |
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Journal of Medical Genetics,
Volume 42,
Issue 10,
2005,
Page 64-64
SAgata,
MDalla Palma,
MCallegaro,
M CScaini,
CMenin,
CGhiotto,
ONicoletto,
GZavagno,
LChieco-Bianchi,
ED’Andrea,
MMontagna,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 7. |
Splicing in action: assessing disease causing sequence changes |
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Journal of Medical Genetics,
Volume 42,
Issue 10,
2005,
Page 737-748
DBaralle,
MBaralle,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 8. |
Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians |
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Journal of Medical Genetics,
Volume 42,
Issue 10,
2005,
Page 749-755
LWideroff,
S TVadaparampil,
M HGreene,
STaplin,
LOlson,
A NFreedman,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 9. |
Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existence of distinct groups of non-HNPCC families |
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Journal of Medical Genetics,
Volume 42,
Issue 10,
2005,
Page 756-762
VJohnson,
L RLipton,
CCummings,
A TEftekhar Sadat,
LIzatt,
S VHodgson,
I CTalbot,
H J WThomas,
A J RSilver,
I P MTomlinson,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 10. |
A common variant of CDKN2A (p16) predisposes to breast cancer |
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Journal of Medical Genetics,
Volume 42,
Issue 10,
2005,
Page 763-765
TDębniak,
BGórski,
THuzarski,
TByrski,
CCybulski,
AMackiewicz,
SGozdecka-Grodecka,
JGronwald,
EKowalska,
OHaus,
EGrzybowska,
MStawicka,
MSwiec,
KUrbański,
SNiepsuj,
BWaśko,
SGóźdź,
PWandzel,
CSzczylik,
DSurdyka,
ARozmiarek,
OZambrano,
MPosmyk,
S ANarod,
JLubinski,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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