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| 1. |
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia |
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Journal of Medical Genetics,
Volume 41,
Issue 5,
2004,
Page 54-54
IWieland,
PMuschke,
SJakubiczka,
MVolleth,
BFreigang,
P FWieacker,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 2. |
Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis |
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Journal of Medical Genetics,
Volume 41,
Issue 5,
2004,
Page 55-55
KFujiki,
HIshiguro,
S BHKo,
NMizuno,
YSuzuki,
TTakemura,
AYamamoto,
TYoshikawa,
MKitagawa,
THayakawa,
YSakai,
TTakayama,
MSaito,
TKondo,
SNaruse,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 3. |
FBN2mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly |
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Journal of Medical Genetics,
Volume 41,
Issue 5,
2004,
Page 56-56
P AGupta,
D DWallis,
T OChin,
HNorthrup,
V TTran-Fadulu,
J ATowbin,
D MMilewicz,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 4. |
A variant form ofhMTH1, a human homologue of theE coli mutTgene, correlates with somatic mutation in thep53tumour suppressor gene in gastric cancer patients |
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Journal of Medical Genetics,
Volume 41,
Issue 5,
2004,
Page 57-57
YKimura,
SOda,
AEgashira,
YKakeji,
HBaba,
YNakabeppu,
YMaehara,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 5. |
Familial renal cell cancer appears to have a recessive component |
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Journal of Medical Genetics,
Volume 41,
Issue 5,
2004,
Page 58-58
KHemminki,
XLi,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 6. |
Significant involvement of CCR2–64I and CXCL12–3a in the development of sporadic breast cancer |
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Journal of Medical Genetics,
Volume 41,
Issue 5,
2004,
Page 59-59
AZafiropoulos,
NCrikas,
A MPassam,
D ASpandidos,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 7. |
MDR1, the blood–brain barrier transporter, is associated with Parkinson’s disease in ethnic Chinese |
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Journal of Medical Genetics,
Volume 41,
Issue 5,
2004,
Page 60-60
C G LLee,
KTang,
Y BCheung,
L PWong,
CTan,
HShen,
YZhao,
RPavanni,
E J DLee,
M-CWong,
S SChong,
E KTan,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 8. |
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome |
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Journal of Medical Genetics,
Volume 41,
Issue 5,
2004,
Page 61-61
DBeltran-Valero de Bernabé,
TVoit,
CLongman,
ASteinbrecher,
VStraub,
YYuva,
RHerrmann,
JSperner,
CKorenke,
CDiesen,
W BDobyns,
H GBrunner,
Hvan Bokhoven,
MBrockington,
FMuntoni,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 9. |
Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation |
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Journal of Medical Genetics,
Volume 41,
Issue 5,
2004,
Page 62-62
V AStreet,
J CKallman,
K LKiemele,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 10. |
Evidence for association between single nucleotide polymorphisms in T complex protein 1 gene and schizophrenia in the Chinese Han population |
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Journal of Medical Genetics,
Volume 41,
Issue 5,
2004,
Page 63-63
M SYang,
LYu,
T WGuo,
S MZhu,
H JLiu,
Y YShi,
N-FGu,
G YFeng,
LHe,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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