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| 1. |
Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial |
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Journal of Medical Genetics,
Volume 46,
Issue 4,
2009,
Page 217-222
HSchmidt,
WKern,
RGiese,
MHallschmid,
AEnders,
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PDF (570KB)
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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. |
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant |
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Journal of Medical Genetics,
Volume 46,
Issue 4,
2009,
Page 223-232
F DHannes,
A JSharp,
H CMefford,
Tde Ravel,
C ARuivenkamp,
M HBreuning,
J-PFryns,
KDevriendt,
GVan Buggenhout,
AVogels,
HStewart,
R CHennekam,
G MCooper,
RRegan,
S J LKnight,
E EEichler,
J RVermeesch,
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PDF (1242KB)
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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. |
Recessive osteogenesis imperfecta caused byLEPRE1mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation |
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Journal of Medical Genetics,
Volume 46,
Issue 4,
2009,
Page 233-241
AWillaert,
FMalfait,
SSymoens,
KGevaert,
HKayserili,
AMegarbane,
GMortier,
J GLeroy,
P JCoucke,
ADe Paepe,
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PDF (1762KB)
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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. |
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders |
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Journal of Medical Genetics,
Volume 46,
Issue 4,
2009,
Page 242-248
D TMiller,
YShen,
L AWeiss,
JKorn,
IAnselm,
CBridgemohan,
G FCox,
HDickinson,
JGentile,
D JHarris,
VHegde,
RHundley,
OKhwaja,
SKothare,
CLuedke,
RNasir,
APoduri,
KPrasad,
PRaffalli,
AReinhard,
S ESmith,
M MSobeih,
J SSoul,
JStoler,
MTakeoka,
W-HTan,
JThakuria,
RWolff,
RYusupov,
J FGusella,
M JDaly,
B-LWu,
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PDF (331KB)
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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. |
The molecular landscape ofASPMmutations in primary microcephaly |
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Journal of Medical Genetics,
Volume 46,
Issue 4,
2009,
Page 249-253
A KNicholas,
E ASwanson,
J JCox,
GKarbani,
SMalik,
KSpringell,
DHampshire,
MAhmed,
JBond,
DDi Benedetto,
MFichera,
CRomano,
W BDobyns,
C GWoods,
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PDF (308KB)
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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. |
Risk reducing mastectomy: outcomes in 10 European centres |
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Journal of Medical Genetics,
Volume 46,
Issue 4,
2009,
Page 254-258
D G REvans,
A DBaildam,
EAnderson,
ABrain,
AShenton,
H F AVasen,
DEccles,
ALucassen,
GPichert,
HHamed,
PMoller,
LMaehle,
P JMorrison,
DStoppat-Lyonnet,
HGregory,
ESmyth,
DNiederacher,
CNestle-Krämling,
JCampbell,
PHopwood,
FLalloo,
AHowell,
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PDF (120KB)
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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. |
Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1) |
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Journal of Medical Genetics,
Volume 46,
Issue 4,
2009,
Page 259-265
TTucker,
CSchnabel,
MHartmann,
R EFriedrich,
IFrieling,
H-PKruse,
V-FMautner,
J MFriedman,
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PDF (632KB)
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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 pilot open label, single dose trial of fenobam in adults with fragile X syndrome |
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Journal of Medical Genetics,
Volume 46,
Issue 4,
2009,
Page 266-271
EBerry-Kravis,
DHessl,
SCoffey,
CHervey,
ASchneider,
JYuhas,
JHutchison,
MSnape,
MTranfaglia,
D VNguyen,
RHagerman,
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PDF (242KB)
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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. |
A large deletion inGPR98causes type IIC Usher syndrome in male and female members of an Iranian family |
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Journal of Medical Genetics,
Volume 46,
Issue 4,
2009,
Page 272-276
NHilgert,
KKahrizi,
NDieltjens,
NBazazzadegan,
HNajmabadi,
R J HSmith,
GVan Camp,
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PDF (492KB)
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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. |
GPR98mutations cause Usher syndrome type 2 in males |
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Journal of Medical Genetics,
Volume 46,
Issue 4,
2009,
Page 277-280
IEbermann,
M H JWiesen,
EZrenner,
ILopez,
RPigeon,
SKohl,
HLöwenheim,
R KKoenekoop,
H JBolz,
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PDF (1288KB)
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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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