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| 1. |
Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24–25 |
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Journal of Medical Genetics,
Volume 43,
Issue 1,
2006,
Page 1-1
MGeremek,
EZiętkiewicz,
S RDiehl,
B ZAlizadeh,
CWijmenga,
MWitt,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 2. |
A novelGJA8mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract |
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Journal of Medical Genetics,
Volume 43,
Issue 1,
2006,
Page 2-2
AArora,
P JMinogue,
XLiu,
M AReddy,
J RAinsworth,
S SBhattacharya,
A RWebster,
D MHunt,
LEbihara,
A TMoore,
E CBeyer,
V MBerthoud,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 3. |
Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage |
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Journal of Medical Genetics,
Volume 43,
Issue 1,
2006,
Page 12-17
PStuart,
R PNair,
G RAbecasis,
INistor,
RHiremagalore,
N VChia,
Z SQin,
R AThompson,
SJenisch,
MWeichenthal,
JJaniga,
H WLim,
EChristophers,
J JVoorhees,
J TElder,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 4. |
Novel mutations inFHand expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer |
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Journal of Medical Genetics,
Volume 43,
Issue 1,
2006,
Page 18-27
M-HWei,
OToure,
G MGlenn,
MPithukpakorn,
LNeckers,
CStolle,
PChoyke,
RGrubb,
LMiddelton,
M LTurner,
M MWalther,
M JMerino,
BZbar,
W MLinehan,
J RToro,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 5. |
Identification of novel deletion breakpoints bordered by segmental duplications in theNF1locus using high resolution array-CGH |
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Journal of Medical Genetics,
Volume 43,
Issue 1,
2006,
Page 28-38
K KMantripragada,
A-CThuresson,
APiotrowski,
TDíaz de Ståhl,
UMenzel,
GGrigelionis,
R EFerner,
SGriffiths,
LBolund,
VMautner,
MNordling,
ELegius,
DVetrie,
NDahl,
LMessiaen,
MUpadhyaya,
C E GBruder,
J PDumanski,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 6. |
Comprehensive analysis ofCDKN2A(p16INK4A/p14ARF) andCDKN2Bgenes in 53 melanoma index cases considered to be at heightened risk of melanoma |
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Journal of Medical Genetics,
Volume 43,
Issue 1,
2006,
Page 39-47
KLaud,
CMarian,
M FAvril,
MBarrois,
AChompret,
A MGoldstein,
M ATucker,
P AClark,
GPeters,
VChaudru,
FDemenais,
ASpatz,
M WSmith,
G MLenoir,
BBressac-de Paillerets,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 7. |
Skewed X chromosome inactivation and early-onset breast cancer |
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Journal of Medical Genetics,
Volume 43,
Issue 1,
2006,
Page 48-53
J PStruewing,
M APineda,
M ESherman,
JLissowska,
L ABrinton,
BPeplonska,
ABardin-Mikolajczak,
MGarcia-Closas,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 8. |
Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study |
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Journal of Medical Genetics,
Volume 43,
Issue 1,
2006,
Page 54-61
CThauvin-Robinet,
MCossée,
VCormier-Daire,
LVan Maldergem,
AToutain,
YAlembik,
EBieth,
VLayet,
PParent,
ADavid,
AGoldenberg,
GMortier,
DHéron,
PSagot,
A MBouvier,
FHuet,
VCusin,
ADonzel,
DDevys,
J RTeyssier,
LFaivre,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 9. |
Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes |
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Journal of Medical Genetics,
Volume 43,
Issue 1,
2006,
Page 62-73
G JPazour,
NAgrin,
B LWalker,
G BWitman,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 10. |
Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants |
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Journal of Medical Genetics,
Volume 43,
Issue 1,
2006,
Page 74-83
P KLovelock,
SHealey,
WAu,
E Y MSum,
ATesoriero,
E MWong,
SHinson,
RBrinkworth,
ABekessy,
ODiez,
LIzatt,
ESolomon,
MJenkins,
HRenard,
JHopper,
PWaring,
S VTavtigian,
DGoldgar,
G JLindeman,
J EVisvader,
F JCouch,
B RHenderson,
MSouthey,
GChenevix-Trench,
A BSpurdle,
M ABrown,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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Volume 43 issue 1