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| 1. |
DJ-1mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function |
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Journal of Medical Genetics,
Volume 41,
Issue 3,
2004,
Page 22-22
P JLockhart,
SLincoln,
MHulihan,
JKachergus,
KWilkes,
GBisceglio,
D CMash,
M JFarrer,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 2. |
The impact of proband mediated information dissemination in families with aBRCA1/2gene mutation |
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Journal of Medical Genetics,
Volume 41,
Issue 3,
2004,
Page 23-23
ESermijn,
GGoelen,
ETeugels,
LKaufman,
MBonduelle,
BNeyns,
BPoppe,
ADe Paepe,
JDe Grève,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 3. |
Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC |
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Journal of Medical Genetics,
Volume 41,
Issue 3,
2004,
Page 24-24
CCazeneuve,
SPapin,
IJéru,
PDuquesnoy,
SAmselem,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 4. |
Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13) |
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Journal of Medical Genetics,
Volume 41,
Issue 3,
2004,
Page 25-25
J MHertz,
BSivertsen,
ASilahtaroglu,
MBugge,
VKalscheuer,
AWeber,
JWirth,
H-HRopers,
NTommerup,
ZTümer,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 5. |
Tetrasomy 21pter→q21.2 in a male infant without typical Down’s syndrome dysmorphic features but moderate mental retardation |
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Journal of Medical Genetics,
Volume 41,
Issue 3,
2004,
Page 26-26
IRost,
HFiegler,
CFauth,
PCarr,
TBettecken,
JKraus,
CMeyer,
AEnders,
AWirtz,
TMeitinger,
N PCarter,
M RSpeicher,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
|
| 6. |
CLCA1gene polymorphisms in chronic obstructive pulmonary disease |
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Journal of Medical Genetics,
Volume 41,
Issue 3,
2004,
Page 27-27
A EHegab,
TSakamoto,
YUchida,
ANomura,
YIshii,
YMorishima,
MMochizuki,
TKimura,
WSaitoh,
H HMassoud,
H MMassoud,
K MHassanein,
KSekizawa,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 7. |
Hepatic lipase C-480T polymorphism modifies the effect of HDL cholesterol on the risk of acute myocardial infarction in men: a prospective population based study |
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Journal of Medical Genetics,
Volume 41,
Issue 3,
2004,
Page 28-28
Y MFan,
J TSalonen,
T AKoivu,
T-PTuomainen,
KNyyssönen,
T ALakka,
RSalonen,
KSeppänen,
S TNikkari,
ETahvanainen,
TLehtimäki,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 8. |
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia |
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Journal of Medical Genetics,
Volume 41,
Issue 3,
2004,
Page 29-29
CGoizet,
RBen Yaou,
LDemay,
PRichard,
SBouillot,
MRouanet,
EHermosilla,
GLe Masson,
ALagueny,
GBonne,
XFerrer,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 9. |
Genetic and epigenetic profile of sporadic pheochromocytomas |
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Journal of Medical Genetics,
Volume 41,
Issue 3,
2004,
Page 30-30
ACascon,
SRuiz-Llorente,
M FFraga,
RLeton,
DTelleria,
JSastre,
JJose Diez,
GMartinez Diaz-Guerra,
J ADiaz Perez,
JBenitez,
MEsteller,
MRobledo,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 10. |
Extending the p16-Leiden tumour spectrum by respiratory tract tumours |
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Journal of Medical Genetics,
Volume 41,
Issue 3,
2004,
Page 31-31
R AOldenburg,
W Hde Vos tot Nederveen Cappel,
Mvan Puijenbroek,
Avan den Ouweland,
EBakker,
GGriffioen,
PDevilee,
C JCornelisse,
HMeijers-Heijboer,
H F AVasen,
HMorreau,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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