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| 1. |
A novel mitochondrialATP8gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy |
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Journal of Medical Genetics,
Volume 45,
Issue 3,
2008,
Page 129-133
A IJonckheere,
MHogeveen,
L G JNijtmans,
M A Mvan den Brand,
A J MJanssen,
J H SDiepstra,
F C Avan den Brandt,
L Pvan den Heuvel,
F AHol,
T G JHofste,
LKapusta,
UDillmann,
M GShamdeen,
J A MSmeitink,
R J TRodenburg,
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PDF (442KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 2. |
Spectrum, and clinical and functional implications ofUNC13Dmutations in familial haemophagocytic lymphohistiocytosis |
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Journal of Medical Genetics,
Volume 45,
Issue 3,
2008,
Page 134-141
ERudd,
Y TBryceson,
CZheng,
JEdner,
S MWood,
KRamme,
SGavhed,
AGürgey,
MHellebostad,
A GBechensteen,
H-GLjunggren,
BFadeel,
MNordenskjöld,
J-IHenter,
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PDF (628KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 3. |
PolymorphicMLH1and risk of cancer after methylating chemotherapy for Hodgkin lymphoma |
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Journal of Medical Genetics,
Volume 45,
Issue 3,
2008,
Page 142-146
L JWorrillow,
A GSmith,
KScott,
MAndersson,
A JAshcroft,
G MDores,
BGlimelius,
EHolowaty,
G HJackson,
G LJones,
C FLynch,
GMorgan,
EPukkala,
DScott,
H HStorm,
P RTaylor,
MVyberg,
EWillett,
L BTravis,
J MAllan,
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PDF (145KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 4. |
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation |
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Journal of Medical Genetics,
Volume 45,
Issue 3,
2008,
Page 147-154
ERossi,
MRiegel,
JMessa,
SGimelli,
PMaraschio,
RCiccone,
MStroppi,
PRiva,
C SPerrotta,
TMattina,
LMemo,
ABaumer,
VKucinskas,
CCastellan,
ASchinzel,
OZuffardi,
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PDF (1033KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 5. |
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts |
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Journal of Medical Genetics,
Volume 45,
Issue 3,
2008,
Page 155-160
AArora,
P JMinogue,
XLiu,
P KAddison,
IRussel-Eggitt,
A RWebster,
D MHunt,
LEbihara,
E CBeyer,
V MBerthoud,
A TMoore,
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PDF (1040KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 6. |
A novel missense mutation inGJB2disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness |
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Journal of Medical Genetics,
Volume 45,
Issue 3,
2008,
Page 161-166
E Ade Zwart-Storm,
HHamm,
JStoevesandt,
P MSteijlen,
P EMartin,
Mvan Geel,
M A Mvan Steensel,
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PDF (2208KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 7. |
Severe neonatal manifestations of Costello syndrome |
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Journal of Medical Genetics,
Volume 45,
Issue 3,
2008,
Page 167-171
I F MLo,
CBrewer,
NShannon,
JShorto,
BTang,
GBlack,
M TSoo,
D K KNg,
S T SLam,
BKerr,
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PDF (510KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 8. |
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy |
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Journal of Medical Genetics,
Volume 45,
Issue 3,
2008,
Page 172-178
HRosas-Vargas,
NBahi-Buisson,
CPhilippe,
JNectoux,
BGirard,
M AN’Guyen Morel,
CGitiaux,
LLazaro,
SOdent,
PJonveaux,
JChelly,
TBienvenu,
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PDF (841KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 9. |
A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes |
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Journal of Medical Genetics,
Volume 45,
Issue 3,
2008,
Page 179-181
D ZLoesch,
MCook,
LLitewka,
EGould,
AChurchyard,
FTassone,
H RSlater,
EStorey,
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PDF (252KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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| 10. |
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness |
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Journal of Medical Genetics,
Volume 45,
Issue 3,
2008,
Page 182-186
KNozu,
TInagaki,
X JFu,
YNozu,
HKaito,
KKanda,
TSekine,
TIgarashi,
KNakanishi,
NYoshikawa,
KIijima,
MMatsuo,
Preview
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PDF (372KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2008
数据来源: BMJ
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