|
|
| 1. |
Eight years' experience of direct molecular testing for myotonic dystrophy in Wales |
| |
Journal of Medical Genetics,
Volume 38,
Issue 12,
2001,
Page 42-42
SivFokstuen,
JennyMyring,
LindaMeredith,
DavidRavine,
Peter SHarper,
Preview
|
PDF (157KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
|
| 2. |
Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations |
| |
Journal of Medical Genetics,
Volume 38,
Issue 12,
2001,
Page 43-43
Paal SkyttAndersen,
OleHavndrup,
HenningBundgaard,
Johanna CatharinaMoolman-Smook,
Lars AllanLarsen,
JensMogensen,
Paul AndriesBrink,
Anders DupontBørglum,
Valerie AnnCorfield,
KeldKjeldsen,
JensVuust,
MichaelChristiansen,
Preview
|
PDF (385KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
|
| 3. |
Detection of a largeTBX5deletion in a family with Holt-Oram syndrome |
| |
Journal of Medical Genetics,
Volume 38,
Issue 12,
2001,
Page 44-44
Seyed MAkrami,
Robin MWinter,
J DavidBrook,
John A LArmour,
Preview
|
PDF (149KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
|
| 4. |
Mutation analysis ofTBX1in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects |
| |
Journal of Medical Genetics,
Volume 38,
Issue 12,
2001,
Page 45-45
WeilongGong,
ShoshannaGottlieb,
JoelleCollins,
AdamBlescia,
HarryDietz,
ElizabethGoldmuntz,
Donna MMcDonald-McGinn,
Elaine HZackai,
Beverly SEmanuel,
Deborah ADriscoll,
Marcia LBudarf,
Preview
|
PDF (222KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
|
| 5. |
De novo mutations in the 5′ regulatory region of the Norrie disease gene in retinopathy of prematurity |
| |
Journal of Medical Genetics,
Volume 38,
Issue 12,
2001,
Page 46-46
S JamesTalks,
NeilEbenezer,
PhilHykin,
GillAdams,
FungYang,
ESchulenberg,
KevinGregory-Evans,
Cheryl YGregory-Evans,
Preview
|
PDF (234KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
|
| 6. |
JMGOnline: exploiting the potential of electronic publication and manuscript submission |
| |
Journal of Medical Genetics,
Volume 38,
Issue 12,
2001,
Page 809-809
EAMONN RMAHER,
Preview
|
PDF (57KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
|
| 7. |
Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions |
| |
Journal of Medical Genetics,
Volume 38,
Issue 12,
2001,
Page 810-819
Megan PHitchins,
PhilipStanier,
Michael APreece,
Gudrun EMoore,
Preview
|
PDF (272KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
|
| 8. |
A novel germline mutation of thePTENgene in a patient with macrocephaly, ventricular dilatation, and features of VATER association |
| |
Journal of Medical Genetics,
Volume 38,
Issue 12,
2001,
Page 820-823
WilliamReardon,
Xiao-PingZhou,
CharisEng,
Preview
|
PDF (283KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
|
| 9. |
Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations inBRCA1 |
| |
Journal of Medical Genetics,
Volume 38,
Issue 12,
2001,
Page 824-833
CharisEng,
Lawrence CBrody,
Teresa M UWagner,
PeterDevilee,
JanVijg,
CsillaSzabo,
Sean VTavtigian,
Katharine LNathanson,
ElaineOstrander,
Thomas SFrank,
Preview
|
PDF (290KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
|
| 10. |
Distinct phenotypes distinguish the molecular classes of Angelman syndrome |
| |
Journal of Medical Genetics,
Volume 38,
Issue 12,
2001,
Page 834-845
A CLossie,
M MWhitney,
DAmidon,
H JDong,
PChen,
DTheriaque,
AHutson,
R DNicholls,
R TZori,
C AWilliams,
D JDriscoll,
Preview
|
PDF (261KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
|
|
首页
