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| 1. |
Instability versus predictability: the molecular diagnosis of myotonic dystrophy. |
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Journal of Medical Genetics,
Volume 29,
Issue 11,
1992,
Page 761-765
G KSuthers,
S MHuson,
K EDavies,
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PDF (892KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1992
数据来源: BMJ
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| 2. |
Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations. |
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Journal of Medical Genetics,
Volume 29,
Issue 11,
1992,
Page 766-769
JDavies,
HYamagata,
PShelbourne,
JBuxton,
TOgihara,
PNokelainen,
MNakagawa,
RWilliamson,
KJohnson,
TMiki,
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PDF (867KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1992
数据来源: BMJ
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| 3. |
Minimal expression of myotonic dystrophy: a clinical and molecular analysis. |
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Journal of Medical Genetics,
Volume 29,
Issue 11,
1992,
Page 770-773
WReardon,
H GHarley,
J DBrook,
S ARundle,
SCrow,
P SHarper,
D JShaw,
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PDF (701KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1992
数据来源: BMJ
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| 4. |
The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. |
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Journal of Medical Genetics,
Volume 29,
Issue 11,
1992,
Page 774-779
AHunter,
CTsilfidis,
GMettler,
PJacob,
MMahadevan,
LSurh,
RKorneluk,
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PDF (1033KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1992
数据来源: BMJ
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| 5. |
Presymptomatic diagnosis of myotonic dystrophy. |
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Journal of Medical Genetics,
Volume 29,
Issue 11,
1992,
Page 780-784
H GBrunner,
WNillesen,
B Avan Oost,
GJansen,
BWieringa,
H HRopers,
H JSmeets,
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PDF (1195KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1992
数据来源: BMJ
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| 6. |
Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy. |
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Journal of Medical Genetics,
Volume 29,
Issue 11,
1992,
Page 785-788
JMyring,
A LMeredith,
H GHarley,
GKohn,
GNorbury,
P SHarper,
D JShaw,
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PDF (872KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1992
数据来源: BMJ
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| 7. |
Expansion of the myotonic dystrophy gene in Italian and Spanish patients. |
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Journal of Medical Genetics,
Volume 29,
Issue 11,
1992,
Page 789-790
SMelchionda,
ACobo,
MGennarelli,
LMartorell,
CFattorini,
MBaiget,
ALopez de Munain,
KJohnson,
PShelbourne,
GNovelli,
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PDF (285KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1992
数据来源: BMJ
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| 8. |
Editor's note |
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Journal of Medical Genetics,
Volume 29,
Issue 11,
1992,
Page 790-790
Peter SHarper,
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PDF (85KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1992
数据来源: BMJ
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| 9. |
Intestinal pseudo-obstruction in myotonic dystrophy. |
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Journal of Medical Genetics,
Volume 29,
Issue 11,
1992,
Page 791-793
H GBrunner,
B CHamel,
PRieu,
C JHöweler,
F TPeters,
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PDF (640KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1992
数据来源: BMJ
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| 10. |
Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation. |
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Journal of Medical Genetics,
Volume 29,
Issue 11,
1992,
Page 794-801
DHeitz,
DDevys,
GImbert,
CKretz,
J LMandel,
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PDF (1641KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1992
数据来源: BMJ
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