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| 1. |
NewPPARGmutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand |
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Journal of Medical Genetics,
Volume 44,
Issue 9,
2007,
Page 88-88
AngelikaLüdtke,
JanineBuettner,
Hartmut H-JSchmidt,
Howard JWorman,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 2. |
Cargos and genes: insights into vesicular transport from inherited human disease |
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Journal of Medical Genetics,
Volume 44,
Issue 9,
2007,
Page 545-555
PaulGissen,
Eamonn RMaher,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 3. |
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children |
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Journal of Medical Genetics,
Volume 44,
Issue 9,
2007,
Page 556-561
FarahZahir,
Helen VFirth,
AgnesBaross,
Allen DDelaney,
PatriceEydoux,
William TGibson,
SylvieLanglois,
HowardMartin,
LionelWillatt,
Marco AMarra,
Jan MFriedman,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 4. |
TheC20orf133gene is disrupted in a patient with Kabuki syndrome |
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Journal of Medical Genetics,
Volume 44,
Issue 9,
2007,
Page 562-569
Nicole M CMaas,
TomVan de Putte,
CindyMelotte,
AnnickFrancis,
Constance T R MSchrander-Stumpel,
DamienSanlaville,
DavidGenevieve,
StanislasLyonnet,
BoyanDimitrov,
KoenraadDevriendt,
Jean-PierreFryns,
Joris RVermeesch,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 5. |
Contribution of the N-acetyltransferase 2 polymorphismNAT2*6Ato age-related hearing impairment |
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Journal of Medical Genetics,
Volume 44,
Issue 9,
2007,
Page 570-578
EVan Eyken,
GVan Camp,
EFransen,
VTopsakal,
J JHendrickx,
KDemeester,
PVan de Heyning,
EMäki-Torkko,
SHannula,
MSorri,
MJensen,
AParving,
MBille,
MBaur,
MPfister,
ABonaconsa,
MMazzoli,
EOrzan,
AEspeso,
DStephens,
KVerbruggen,
JHuyghe,
IDhooge,
PHuygen,
HKremer,
C W R JCremers,
SKunst,
MManninen,
IPyykkö,
ALacava,
MSteffens,
T FWienker,
LVan Laer,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 6. |
Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study ofPTENmutation carriers |
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Journal of Medical Genetics,
Volume 44,
Issue 9,
2007,
Page 579-585
K LLachlan,
A MLucassen,
DBunyan,
I KTemple,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 7. |
Genetic screening for pheochromocytoma: shouldSDHCgene analysis be included? |
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Journal of Medical Genetics,
Volume 44,
Issue 9,
2007,
Page 586-587
MMannelli,
TErcolino,
VGiachè,
LSimi,
CCirami,
GParenti,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 8. |
Mutations of theBirt–Hogg–Dubégene in patients with multiple lung cysts and recurrent pneumothorax |
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Journal of Medical Genetics,
Volume 44,
Issue 9,
2007,
Page 588-593
YokoGunji,
TaekoAkiyoshi,
TeruhikoSato,
MasatoshiKurihara,
ShigeruTominaga,
KazuhisaTakahashi,
KuniakiSeyama,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 9. |
The spectrum of vascular anomalies in patients withPTENmutations: implications for diagnosis and management |
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Journal of Medical Genetics,
Volume 44,
Issue 9,
2007,
Page 594-602
Wen-HannTan,
Hagit NBaris,
Patricia EBurrows,
Caroline DRobson,
Ahmad IAlomari,
John BMulliken,
Steven JFishman,
Mira BIrons,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 10. |
Genetic association analysis of inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) variants with essential hypertension |
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Journal of Medical Genetics,
Volume 44,
Issue 9,
2007,
Page 603-605
Ana Carolina BragaMarçano,
BeverleyBurke,
JohannieGungadoo,
ChrisWallace,
Pamela JKaisaki,
Peng YWoon,
MartinFarrall,
DavidClayton,
MorrisBrown,
AnnaDominiczak,
John MConnell,
JohnWebster,
MarkLathrop,
MarkCaulfield,
NileshSamani,
DominiqueGauguier,
Patricia BMunroe,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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