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| 1. |
Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes |
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Journal of Medical Genetics,
Volume 47,
Issue 10,
2010,
Page 651-658
Alan HHandyside,
Gary LHarton,
BrianMariani,
Alan RThornhill,
NabeelAffara,
Marie-AnneShaw,
Darren KGriffin,
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PDF (586KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2009
数据来源: BMJ
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| 2. |
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes |
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Journal of Medical Genetics,
Volume 47,
Issue 10,
2010,
Page 659-664
MNakamura,
IYabe,
ASudo,
KHosoki,
HYaguchi,
SSaitoh,
HSasaki,
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PDF (847KB)
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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. |
Mutations inPCDH21cause autosomal recessive cone-rod dystrophy |
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Journal of Medical Genetics,
Volume 47,
Issue 10,
2010,
Page 665-669
EOstergaard,
MBatbayli,
MDuno,
KVilhelmsen,
TRosenberg,
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PDF (596KB)
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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. |
The severity of phenotype linked toSUCLG1mutations could be correlated with residual amount of SUCLG1 protein |
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Journal of Medical Genetics,
Volume 47,
Issue 10,
2010,
Page 670-676
CRouzier,
SLe Guédard-Méreuze,
KFragaki,
VSerre,
JMiro,
STuffery-Giraud,
AChaussenot,
SBannwarth,
CCaruba,
EOstergaard,
J-FPellissier,
CRichelme,
CEspil,
BChabrol,
VPaquis-Flucklinger,
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PDF (698KB)
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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. |
Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects |
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Journal of Medical Genetics,
Volume 47,
Issue 10,
2010,
Page 677-685
FPangilinan,
AMitchell,
JVanderMeer,
A MMolloy,
JTroendle,
MConley,
P NKirke,
MSutton,
J MSequeira,
E VQuadros,
J MScott,
J LMills,
L CBrody,
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PDF (527KB)
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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. |
Germline mutations of theCBLgene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia |
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Journal of Medical Genetics,
Volume 47,
Issue 10,
2010,
Page 686-691
BPérez,
FMechinaud,
CGalambrun,
NBen Romdhane,
BIsidor,
NPhilip,
JDerain-Court,
BCassinat,
JLachenaud,
SKaltenbach,
ASalmon,
CDésirée,
SPereira,
M LMenot,
NRoyer,
OFenneteau,
ABaruchel,
CChomienne,
AVerloes,
HCavé,
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PDF (663KB)
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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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| 7. |
Colorectal adenomas and cancer link to chromosome 13q22.1–13q31.3 in a large family with excess colorectal cancer |
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Journal of Medical Genetics,
Volume 47,
Issue 10,
2010,
Page 692-699
Deborah WNeklason,
Thérèse MTuohy,
JefferyStevens,
BrithOtterud,
LisaBaird,
Richard AKerber,
Wade SSamowitz,
Scott KKuwada,
Mark FLeppert,
Randall WBurt,
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PDF (454KB)
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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. |
Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the disease |
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Journal of Medical Genetics,
Volume 47,
Issue 10,
2010,
Page 700-703
CSpits,
SSeneca,
PHilven,
ILiebaers,
KSermon,
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PDF (223KB)
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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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| 9. |
Novel and recurrentTRPV4mutations and their association with distinct phenotypes within the TRPV4 dysplasia family |
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Journal of Medical Genetics,
Volume 47,
Issue 10,
2010,
Page 704-709
JDai,
O-HKim,
T-JCho,
MSchmidt-Rimpler,
HTonoki,
KTakikawa,
NHaga,
KMiyoshi,
HKitoh,
W-JYoo,
I-HChoi,
H-RSong,
D-KJin,
H-TKim,
HKamasaki,
PBianchi,
GGrigelioniene,
SNampoothiri,
MMinagawa,
S-iMiyagawa,
TFukao,
CMarcelis,
M C EJansweijer,
R C MHennekam,
FBedeschi,
AMustonen,
QJiang,
HOhashi,
TFuruichi,
SUnger,
BZabel,
ELausch,
ASuperti-Furga,
GNishimura,
SIkegawa,
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PDF (300KB)
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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. |
Risk of breast cancer in maleBRCA2carriers |
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Journal of Medical Genetics,
Volume 47,
Issue 10,
2010,
Page 710-711
D G REvans,
ISusnerwala,
JDawson,
EWoodward,
E RMaher,
FLalloo,
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PDF (58KB)
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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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