|
|
| 1. |
Osteogenesis imperfecta: translation of mutation to phenotype. |
| |
Journal of Medical Genetics,
Volume 28,
Issue 7,
1991,
Page 433-442
P HByers,
G AWallis,
M CWilling,
Preview
|
PDF (1679KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 2. |
Von Hippel-Lindau disease: a genetic study. |
| |
Journal of Medical Genetics,
Volume 28,
Issue 7,
1991,
Page 443-447
E RMaher,
LIselius,
J RYates,
MLittler,
CBenjamin,
RHarris,
JSampson,
AWilliams,
M AFerguson-Smith,
NMorton,
Preview
|
PDF (808KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 3. |
Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers. |
| |
Journal of Medical Genetics,
Volume 28,
Issue 7,
1991,
Page 448-452
J CMulley,
A KGedeon,
S JWhite,
E AHaan,
R IRichards,
Preview
|
PDF (812KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 4. |
Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. |
| |
Journal of Medical Genetics,
Volume 28,
Issue 7,
1991,
Page 453-457
A FWright,
S SBhattacharya,
M AAldred,
MJay,
A DCarothers,
N SThomas,
A CBird,
BJay,
H JEvans,
Preview
|
PDF (721KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 5. |
Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV. |
| |
Journal of Medical Genetics,
Volume 28,
Issue 7,
1991,
Page 458-463
A JRichards,
J CLloyd,
P NWard,
ADe Paepe,
PNarcisi,
F MPope,
Preview
|
PDF (1335KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 6. |
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. |
| |
Journal of Medical Genetics,
Volume 28,
Issue 7,
1991,
Page 464-467
L BGiebel,
M AMusarella,
R ASpritz,
Preview
|
PDF (718KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 7. |
Sister chromatid exchange evaluation as an aid to the diagnosis and exclusion of Fanconi's anaemia by induced chromosome damage analysis. |
| |
Journal of Medical Genetics,
Volume 28,
Issue 7,
1991,
Page 468-471
R THowell,
Preview
|
PDF (831KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 8. |
Application of D'Arcy Thompson's coordinate transformation approach to clinical genetics photographs using image processing techniques. |
| |
Journal of Medical Genetics,
Volume 28,
Issue 7,
1991,
Page 472-476
J HDiLiberti,
Preview
|
PDF (1191KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 9. |
A rare heteromorphism of chromosome 20 and reproductive loss. |
| |
Journal of Medical Genetics,
Volume 28,
Issue 7,
1991,
Page 477-478
D RRomain,
SWhyte,
D FCallen,
H JEyre,
Preview
|
PDF (467KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 10. |
Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3 |
| |
Journal of Medical Genetics,
Volume 28,
Issue 7,
1991,
Page 479-481
S HRoberts,
H EHughes,
S JDavies,
A LMeredith,
Preview
|
PDF (813KB)
|
|
ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
|
首页
