|
|
| 1. |
Coffin-Lowry phenotype in a patient with a complex chromosome rearrangement |
| |
Journal of Medical Genetics,
Volume 39,
Issue 8,
2002,
Page 41-41
NConcannon,
A-MHegarty,
R LStallings,
WReardon,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
|
| 2. |
Interstitial telomeres of an inv(9)(p11.2;q34) involved in a jumping translocation found in a woman through a stable unbalanced translocation in her malformed child |
| |
Journal of Medical Genetics,
Volume 39,
Issue 8,
2002,
Page 42-42
ESala,
NVilla,
PRiva,
TVarisco,
LLarizza,
LDalprà,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
|
| 3. |
FOXL2mutation screening in a large panel of POF patients and XX males |
| |
Journal of Medical Genetics,
Volume 39,
Issue 8,
2002,
Page 43-43
EDe Baere,
BLemercier,
SChristin-Maitre,
DDurval,
LMessiaen,
MFellous,
RVeitia,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
|
| 4. |
A breast cancer family from Spain with germline mutations in both theBRCA1andBRCA2genes |
| |
Journal of Medical Genetics,
Volume 39,
Issue 8,
2002,
Page 44-44
TCaldes,
Mde la Hoya,
ATosar,
SSulleiro,
JGodino,
DIbañez,
MMartin,
PPerez-Segura,
EDiaz-Rubio,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
|
| 5. |
Multifocal glomus tumours of the fingers in two patients with neurofibromatosis type 1 |
| |
Journal of Medical Genetics,
Volume 39,
Issue 8,
2002,
Page 45-45
LDe Smet,
RSciot,
ELegius,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
|
| 6. |
Spastingene mutation in Japanese with hereditary spastic paraplegia |
| |
Journal of Medical Genetics,
Volume 39,
Issue 8,
2002,
Page 46-46
IYabe,
HSasaki,
KTashiro,
TMatsuura,
TTakegami,
TSatoh,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
|
| 7. |
Deletion of theOPA1gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease |
| |
Journal of Medical Genetics,
Volume 39,
Issue 8,
2002,
Page 47-47
N JMarchbank,
J ECraig,
J PLeek,
MToohey,
A JChurchill,
A FMarkham,
D AMackey,
CToomes,
C FInglehearn,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
|
| 8. |
A necropsy case of Denys-Drash syndrome with aWT1mutation in exon 7 |
| |
Journal of Medical Genetics,
Volume 39,
Issue 8,
2002,
Page 48-48
RFukuzawa,
JSakamoto,
R WHeathcott,
J-IHata,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
|
| 9. |
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome |
| |
Journal of Medical Genetics,
Volume 39,
Issue 8,
2002,
Page 537-545
R SWildin,
SSmyk-Pearson,
A HFilipovich,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
|
| 10. |
Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience |
| |
Journal of Medical Genetics,
Volume 39,
Issue 8,
2002,
Page 546-553
C D Mvan Karnebeek,
CKoevoets,
SSluijter,
E KBijlsma,
D F M CSmeets,
E JRedeker,
R C MHennekam,
J M NHoovers,
Preview
|
|
ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
|
|
首页
