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| 1. |
Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa |
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Journal of Medical Genetics,
Volume 48,
Issue 3,
2011,
Page 145-151
David ASimpson,
Graeme RClark,
SharonAlexander,
GiulianaSilvestri,
Colin EWilloughby,
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ISSN:0022-2593
出版商:J Med Genet
年代:2010
数据来源: BMJ
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| 2. |
Variants inCFTRuntranslated regions are associated with congenital bilateral absence of the vas deferens |
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Journal of Medical Genetics,
Volume 48,
Issue 3,
2011,
Page 152-159
EstelleLopez,
VictoriaViart,
CarolineGuittard,
CarineTemplin,
CélineRené,
DéborahMéchin,
Marie DesGeorges,
MireilleClaustres,
Marie-CatherineRomey-Chatelain,
MagaliTaulan,
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PDF (511KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2010
数据来源: BMJ
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| 3. |
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen |
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Journal of Medical Genetics,
Volume 48,
Issue 3,
2011,
Page 160-167
Peter Cvan den Akker,
Jemima EMellerio,
Anna EMartinez,
LuLiu,
RowdyMeijer,
Patricia J CDopping-Hepenstal,
Anthonie Jvan Essen,
HansScheffer,
Robert M WHofstra,
John AMcGrath,
Marcel FJonkman,
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ISSN:0022-2593
出版商:J Med Genet
年代:2010
数据来源: BMJ
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| 4. |
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair |
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Journal of Medical Genetics,
Volume 48,
Issue 3,
2011,
Page 168-176
Porcia TBradford,
Alisa MGoldstein,
DeborahTamura,
Sikandar GKhan,
TakahiroUeda,
JenniferBoyle,
Kyu-SeonOh,
KyokoImoto,
HirokiInui,
Shin-IchiMoriwaki,
SteffenEmmert,
Kristen MPike,
AratiRaziuddin,
Teri MPlona,
John JDiGiovanna,
Margaret ATucker,
Kenneth HKraemer,
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PDF (1063KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2010
数据来源: BMJ
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| 5. |
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome |
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Journal of Medical Genetics,
Volume 48,
Issue 3,
2011,
Page 177-182
RonenSpiegel,
MoradKhayat,
Stavit AShalev,
YosephHorovitz,
HannaMandel,
EliHershkovitz,
FloraBarghuti,
AvrahamShaag,
AnnSaada,
Stanley HKorman,
OrlyElpeleg,
IdoYatsiv,
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PDF (244KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2010
数据来源: BMJ
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| 6. |
LRPPRCmutations cause a phenotypically distinct form of Leigh syndrome with cytochromecoxidase deficiency |
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Journal of Medical Genetics,
Volume 48,
Issue 3,
2011,
Page 183-189
François-GuillaumeDebray,
CharlesMorin,
AnnieJanvier,
JoséeVilleneuve,
BrunoMaranda,
RachelLaframboise,
JacquesLacroix,
Jean-ClaudeDecarie,
YvesRobitaille,
MarieLambert,
Brian HRobinson,
Grant AMitchell,
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PDF (1105KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2011
数据来源: BMJ
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| 7. |
Genetic architecture of open angle glaucoma and related determinants |
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Journal of Medical Genetics,
Volume 48,
Issue 3,
2011,
Page 190-196
Wishal DRamdas,
NajafAmin,
Leonieke M Evan Koolwijk,
A Cecile J WJanssens,
AyseDemirkan,
Paulus T V Mde Jong,
Yurii SAulchenko,
Roger C WWolfs,
AlbertHofman,
FernandoRivadeneira,
Andre GUitterlinden,
Ben AOostra,
Hans GLemij,
Caroline C WKlaver,
Johannes RVingerling,
Nomdo MJansonius,
Cornelia Mvan Duijn,
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PDF (500KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2010
数据来源: BMJ
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| 8. |
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia |
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Journal of Medical Genetics,
Volume 48,
Issue 3,
2011,
Page 197-204
SerenaNik-Zainal,
ReinerStrick,
MekaylaStorer,
NiHuang,
RolandRad,
LionelWillatt,
TomasFitzgerald,
VickiMartin,
RichardSandford,
Nigel PCarter,
Andreas RJanecke,
Stefan PRenner,
Patricia GOppelt,
PeterOppelt,
ChristineSchulze,
SaraBrucker,
MatthewHurles,
Matthias WBeckmann,
Pamela LStrissel,
CharlesShaw-Smith,
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PDF (666KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2011
数据来源: BMJ
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| 9. |
Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion inCSF2RB |
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Journal of Medical Genetics,
Volume 48,
Issue 3,
2011,
Page 205-209
TakeshiTanaka,
NatsukiMotoi,
YoshikoTsuchihashi,
RyushiTazawa,
ChinatsuKaneko,
TakahitoNei,
ToshiyukiYamamoto,
TomayoshiHayashi,
TsutomuTagawa,
TakeshiNagayasu,
FutoshiKuribayashi,
KoyaAriyoshi,
KohNakata,
KonosukeMorimoto,
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PDF (509KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2010
数据来源: BMJ
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| 10. |
Association of theCBLBgene with multiple sclerosis: new evidence from a replication study in an Italian population |
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Journal of Medical Genetics,
Volume 48,
Issue 3,
2011,
Page 210-211
LuciaCorrado,
LauraBergamaschi,
NadiaBarizzone,
Maria EdvigeFasano,
Franca RGuerini,
MarcoSalvetti,
DanielaGalimberti,
Maria DonataBenedetti,
MaurizioLeone,
SandraD'Alfonso,
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PDF (63KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2010
数据来源: BMJ
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