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| 1. |
The G6055A (G2019S) mutation inLRRK2is frequent in both early and late onset Parkinson’s disease and originates from a common ancestor |
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Journal of Medical Genetics,
Volume 42,
Issue 11,
2005,
Page 65-65
SGoldwurm,
A DiFonzo,
E JSimons,
C FRohé,
MZini,
MCanesi,
STesei,
AZecchinelli,
AAntonini,
CMariani,
NMeucci,
GSacilotto,
FSironi,
GSalani,
JFerreira,
H FChien,
EFabrizio,
NVanacore,
A DallaLibera,
FStocchi,
CDiroma,
PLamberti,
CSampaio,
GMeco,
EBarbosa,
A MBertoli-Avella,
G JBreedveld,
B AOostra,
GPezzoli,
VBonifati,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 2. |
Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions |
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Journal of Medical Genetics,
Volume 42,
Issue 11,
2005,
Page 66-66
RVisser,
OShimokawa,
NHarada,
NNiikawa,
NMatsumoto,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 3. |
Identification of mutations in theAIPL1, CRB1, GUCY2D, RPE65, andRPGRIP1genes in patients with juvenile retinitis pigmentosa |
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Journal of Medical Genetics,
Volume 42,
Issue 11,
2005,
Page 67-67
J CBooij,
R JFlorijn,
J Bten Brink,
WLoves,
FMeire,
M Jvan Schooneveld,
P TVMde Jong,
A A BBergen,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 4. |
The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis |
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Journal of Medical Genetics,
Volume 42,
Issue 11,
2005,
Page 801-810
A JBauer,
C AStratakis,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 5. |
Genetics of skin appendage neoplasms and related syndromes |
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Journal of Medical Genetics,
Volume 42,
Issue 11,
2005,
Page 811-819
D ALee,
M EGrossman,
PSchneiderman,
J TCelebi,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 6. |
RAI1variations in Smith–Magenis syndrome patients without 17p11.2 deletions |
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Journal of Medical Genetics,
Volume 42,
Issue 11,
2005,
Page 820-828
SGirirajan,
L JElsas,
KDevriendt,
S HElsea,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 7. |
Young patients with colorectal cancer are genetically susceptible |
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Journal of Medical Genetics,
Volume 42,
Issue 11,
2005,
Page 828-828
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 8. |
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero |
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Journal of Medical Genetics,
Volume 42,
Issue 11,
2005,
Page 829-836
RFroissart,
DCheillan,
RBouvier,
STourret,
VBonnet,
MPiraud,
IMaire,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 9. |
Linkage disequilibrium fine mapping and haplotype association analysis of thetaugene in progressive supranuclear palsy and corticobasal degeneration |
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Journal of Medical Genetics,
Volume 42,
Issue 11,
2005,
Page 837-846
A MPittman,
A JMyers,
PAbou-Sleiman,
H CFung,
MKaleem,
LMarlowe,
JDuckworth,
DLeung,
DWilliams,
LKilford,
NThomas,
C MMorris,
DDickson,
N WWood,
JHardy,
A JLees,
Rde Silva,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 10. |
Global analysis of uniparental disomy using high density genotyping arrays |
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Journal of Medical Genetics,
Volume 42,
Issue 11,
2005,
Page 847-851
SBruce,
RLeinonen,
C MLindgren,
KKivinen,
KDahlman-Wright,
MLipsanen-Nyman,
KHannula-Jouppi,
JKere,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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