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| 1. |
Long-range regulation at theSOX9locus in development and disease |
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Journal of Medical Genetics,
Volume 46,
Issue 10,
2009,
Page 649-656
C TGordon,
T YTan,
SBenko,
DFitzPatrick,
SLyonnet,
P GFarlie,
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PDF (259KB)
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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. |
Association of chromosome 2q36.1–36.3 and autosomal dominant transmission in ankylosing spondylitis: results of genetic studies across generations of Han Chinese families |
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Journal of Medical Genetics,
Volume 46,
Issue 10,
2009,
Page 657-662
JGu,
JHuang,
CLi,
LZhao,
FHuang,
ZLiao,
TLi,
QWei,
ZLin,
YPan,
JHuang,
XWang,
QLin,
CLu,
YWu,
SCao,
JWu,
HXu,
BYu,
YShen,
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PDF (545KB)
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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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| 3. |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) |
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Journal of Medical Genetics,
Volume 46,
Issue 10,
2009,
Page 663-670
E AOtto,
KTory,
MAttanasio,
WZhou,
MChaki,
YParuchuri,
E LWise,
M T FWolf,
BUtsch,
CBecker,
GNürnberg,
PNürnberg,
ANayir,
SSaunier,
CAntignac,
FHildebrandt,
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PDF (2103KB)
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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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| 4. |
Physicochemical property changes of amino acid residues that accompany missense mutations inSCN1Aaffect epilepsy phenotype severity |
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Journal of Medical Genetics,
Volume 46,
Issue 10,
2009,
Page 671-679
KKanai,
SYoshida,
SHirose,
HOguni,
SKuwabara,
SSawai,
AHiraga,
GFukuma,
HIwasa,
TKojima,
SKaneko,
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PDF (409KB)
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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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| 5. |
Phenomic determinants of genomic variation in autism spectrum disorders |
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Journal of Medical Genetics,
Volume 46,
Issue 10,
2009,
Page 680-688
YQiao,
NRiendeau,
MKoochek,
XLiu,
ChansonetteHarvard,
M JHildebrand,
J J AHolden,
ERajcan-Separovic,
M E SLewis,
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PDF (317KB)
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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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| 6. |
High frequency of de novo mutations in Li–Fraumeni syndrome |
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Journal of Medical Genetics,
Volume 46,
Issue 10,
2009,
Page 689-693
K DGonzalez,
C HBuzin,
K ANoltner,
DGu,
WLi,
DMalkin,
S SSommer,
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PDF (204KB)
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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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| 7. |
U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements |
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Journal of Medical Genetics,
Volume 46,
Issue 10,
2009,
Page 694-702
L RRowe,
J-YLee,
LRector,
E BKaminsky,
A RBrothman,
C LMartin,
S TSouth,
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PDF (582KB)
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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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| 8. |
A new microduplication syndrome encompassing the region of the Miller–Dieker (17p13 deletion) syndrome |
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Journal of Medical Genetics,
Volume 46,
Issue 10,
2009,
Page 703-710
LRoos,
A EJønch,
SKjaergaard,
KTaudorf,
HSimonsen,
BHamborg-Petersen,
KBrøndum-Nielsen,
MKirchhoff,
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PDF (873KB)
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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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| 9. |
ABCB4gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy |
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Journal of Medical Genetics,
Volume 46,
Issue 10,
2009,
Page 711-715
YBacq,
CGendrot,
FPerrotin,
LLefrou,
SChrétien,
VVie-Buret,
M-CBrechot,
C RAndres,
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PDF (168KB)
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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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| 10. |
Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome |
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Journal of Medical Genetics,
Volume 46,
Issue 10,
2009,
Page 716-720
S MMaas,
M PLombardi,
A Jvan Essen,
E LWakeling,
BCastle,
I KTemple,
V K AKumar,
KWritzl,
Raoul C MHennekam,
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PDF (535KB)
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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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