|
|
| 1. |
Admixture mapping of ankle–arm index: identification of a candidate locus associated with peripheral arterial disease |
| |
Journal of Medical Genetics,
Volume 47,
Issue 1,
2010,
Page 1-7
M LScherer,
M ANalls,
LPawlikowska,
EZiv,
GMitchell,
SHuntsman,
DHu,
KSutton-Tyrrell,
E GLakatta,
W-CHsueh,
A BNewman,
ATandon,
LKim,
P-YKwok,
ASung,
RLi,
BPsaty,
A PReiner,
THarris,
Preview
|
PDF (694KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
|
| 2. |
Mutations in 3 genes (MKS3,CC2D2AandRPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) |
| |
Journal of Medical Genetics,
Volume 47,
Issue 1,
2010,
Page 8-21
DDoherty,
M AParisi,
L SFinn,
MGunay-Aygun,
MAl-Mateen,
DBates,
CClericuzio,
HDemir,
MDorschner,
A Jvan Essen,
W AGahl,
MGentile,
N TGorden,
AHikida,
DKnutzen,
HÖzyurek,
IPhelps,
PRosenthal,
AVerloes,
HWeigand,
P FChance,
W BDobyns,
I AGlass,
Preview
|
PDF (4132KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
|
| 3. |
MEF2Chaploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations |
| |
Journal of Medical Genetics,
Volume 47,
Issue 1,
2010,
Page 22-29
NLe Meur,
MHolder-Espinasse,
SJaillard,
AGoldenberg,
SJoriot,
PAmati-Bonneau,
AGuichet,
MBarth,
ACharollais,
HJournel,
SAuvin,
CBoucher,
J-PKerckaert,
VDavid,
SManouvrier-Hanu,
PSaugier-Veber,
TFrébourg,
CDubourg,
JAndrieux,
DBonneau,
Preview
|
PDF (5632KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
|
| 4. |
Phenotypic variability in 49 cases ofESCO2mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates withESCO2expression and establishes the clinical criteria for Roberts syndrome |
| |
Journal of Medical Genetics,
Volume 47,
Issue 1,
2010,
Page 30-37
HVega,
A HTrainer,
MGordillo,
MCrosier,
HKayserili,
FSkovby,
M L GiovannucciUzielli,
R ESchnur,
SManouvrier,
EBlair,
J AHurst,
FForzano,
MMeins,
K O JSimola,
ARaas-Rothschild,
R C MHennekam,
E WangJabs,
Preview
|
PDF (6492KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
|
| 5. |
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands |
| |
Journal of Medical Genetics,
Volume 47,
Issue 1,
2010,
Page 38-48
S SCathey,
J GLeroy,
TWood,
KEaves,
R JSimensen,
MKudo,
R EStevenson,
M JFriez,
Preview
|
PDF (1212KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
|
| 6. |
NovelFOXG1mutations associated with the congenital variant of Rett syndrome |
| |
Journal of Medical Genetics,
Volume 47,
Issue 1,
2010,
Page 49-53
M AMencarelli,
ASpanhol-Rosseto,
RArtuso,
DRondinella,
RDe Filippis,
NBahi-Buisson,
JNectoux,
RRubinsztajn,
TBienvenu,
AMoncla,
BChabrol,
LVillard,
ZKrumina,
JArmstrong,
ARoche,
MPineda,
EGak,
FMari,
FAriani,
ARenieri,
Preview
|
PDF (405KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
|
| 7. |
Association between a polymorphism in the human programmed death-1 (PD-1) gene and cytomegalovirus infection after kidney transplantation |
| |
Journal of Medical Genetics,
Volume 47,
Issue 1,
2010,
Page 54-58
Thomas WHoffmann,
Jean-MichelHalimi,
MathiasBüchler,
FlorenceVelge-Roussel,
AlainGoudeau,
AzmiAl-Najjar,
Jean-FrédéricMarliere,
YvonLebranchu,
ChristopheBaron,
Preview
|
PDF (101KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
|
| 8. |
Phenotypic variability in Rett syndrome associated withFOXG1mutations in females |
| |
Journal of Medical Genetics,
Volume 47,
Issue 1,
2010,
Page 59-65
CPhilippe,
DAmsallem,
CFrancannet,
LLambert,
ASaunier,
FVerneau,
PJonveaux,
Preview
|
PDF (1230KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
|
| 9. |
DARS2mutations in mitochondrial leucoencephalopathy and multiple sclerosis |
| |
Journal of Medical Genetics,
Volume 47,
Issue 1,
2010,
Page 66-70
PIsohanni,
TLinnankivi,
JBuzkova,
TLönnqvist,
HPihko,
LValanne,
P JTienari,
IElovaara,
TPirttilä,
MReunanen,
KKoivisto,
SMarjavaara,
ASuomalainen,
Preview
|
PDF (1264KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
|
| 10. |
A novelFTLinsertion causing neuroferritinopathy |
| |
Journal of Medical Genetics,
Volume 47,
Issue 1,
2010,
Page 71-72
SBatey,
IVuillaume,
DDevos,
ADestée,
A JCurtis,
ALombes,
ACurtis,
JBurn,
P FChinnery,
Preview
|
PDF (2303KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2010
数据来源: BMJ
|
|
首页
Volume 47 issue 1