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| 1. |
Correction: Functional analysis of BRCA1 M1628V variant |
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Journal of Medical Genetics,
Volume 44,
Issue 5,
2007,
Page 78-78
Marcelo ACarvalho,
Alvaro N AMonteiro,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 2. |
No screening yet after a negative test for the family mutation |
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Journal of Medical Genetics,
Volume 44,
Issue 5,
2007,
Page 79-79
M M ATilanus-Linthorst,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 3. |
Genetics of dyslexia: the evolving landscape |
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Journal of Medical Genetics,
Volume 44,
Issue 5,
2007,
Page 289-297
JohannesSchumacher,
PerHoffmann,
ChristineSchmäl,
GerdSchulte-Körne,
Markus MNöthen,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 4. |
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts |
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Journal of Medical Genetics,
Volume 44,
Issue 5,
2007,
Page 298-305
DHaas,
JMorgenthaler,
FLacbawan,
BLong,
HRunz,
S FGarbade,
JZschocke,
R IKelley,
J GOkun,
G FHoffmann,
MMuenke,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 5. |
Genotypes and phenotypes in children with short stature: clinical indicators ofSHOXhaploinsufficiency |
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Journal of Medical Genetics,
Volume 44,
Issue 5,
2007,
Page 306-313
GudrunRappold,
Werner FBlum,
Elena PShavrikova,
Brenda JCrowe,
RalphRoeth,
Charmian AQuigley,
Judith LRoss,
BeateNiesler,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 6. |
The humanGIMAP5gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus |
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Journal of Medical Genetics,
Volume 44,
Issue 5,
2007,
Page 314-321
AnnaHellquist,
MarcoZucchelli,
KatjaKivinen,
UlpuSaarialho-Kere,
SariKoskenmies,
ElisabethWiden,
HeikkiJulkunen,
AndrewWong,
Marja-LiisaKarjalainen-Lindsberg,
TiinaSkoog,
JohannaVendelin,
Deborah SCunninghame-Graham,
Timothy JVyse,
JuhaKere,
Cecilia MLindgren,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 7. |
Borate transporterSLC4A11mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy |
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Journal of Medical Genetics,
Volume 44,
Issue 5,
2007,
Page 322-326
JulieDesir,
GracielaMoya,
OritReish,
NicoleVan Regemorter,
HildeDeconinck,
Karen LDavid,
Françoise MMeire,
Marc JAbramowicz,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 8. |
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations inEP300 |
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Journal of Medical Genetics,
Volume 44,
Issue 5,
2007,
Page 327-333
DeborahBartholdi,
Jeroen HRoelfsema,
FrancescoPapadia,
Martijn HBreuning,
DunjaNiedrist,
Raoul CHennekam,
AlbertSchinzel,
Dorien J MPeters,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 9. |
l-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model |
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Journal of Medical Genetics,
Volume 44,
Issue 5,
2007,
Page 334-340
JacquesPenderis,
JacquiCalvin,
CarleyAbramson,
CornelisJakobs,
LouisePettitt,
Matthew MBinns,
Nanda MVerhoeven,
EamonnO’Driscoll,
Simon RPlatt,
Cathryn SMellersh,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 10. |
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X |
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Journal of Medical Genetics,
Volume 44,
Issue 5,
2007,
Page 341-346
IsabelAznarez,
JulianZielenski,
Johanna MRommens,
Benjamin JBlencowe,
Lap-CheeTsui,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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