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| 1. |
Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. |
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Journal of Medical Genetics,
Volume 31,
Issue 3,
1994,
Page 177-182
AHirvasniemi,
HLang,
A ELehesjoki,
JLeisti,
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PDF (929KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1994
数据来源: BMJ
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| 2. |
On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis. |
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Journal of Medical Genetics,
Volume 31,
Issue 3,
1994,
Page 183-186
TGrimm,
GMeng,
SLiechti-Gallati,
TBettecken,
C RMüller,
BMüller,
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PDF (702KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1994
数据来源: BMJ
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| 3. |
Genetic study of indirect inguinal hernia. |
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Journal of Medical Genetics,
Volume 31,
Issue 3,
1994,
Page 187-192
YGong,
CShao,
QSun,
BChen,
YJiang,
CGuo,
JWei,
YGuo,
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PDF (994KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1994
数据来源: BMJ
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| 4. |
X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms. |
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Journal of Medical Genetics,
Volume 31,
Issue 3,
1994,
Page 193-196
SCochrane,
JBergoffen,
N DFairweather,
EMüller,
M LMostacciuolo,
A PMonaco,
K HFischbeck,
N EHaites,
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PDF (475KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1994
数据来源: BMJ
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| 5. |
Confirmation of association between the e4 allele of apolipoprotein E and Alzheimer's disease. |
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Journal of Medical Genetics,
Volume 31,
Issue 3,
1994,
Page 197-200
MLiddell,
JWilliams,
ABayer,
FKaiser,
MOwen,
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PDF (863KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1994
数据来源: BMJ
|
| 6. |
Familial pericentric inversion inv(8)(p23q11). |
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Journal of Medical Genetics,
Volume 31,
Issue 3,
1994,
Page 201-205
HBoyd,
JKaste,
EHovi,
U MRitanen-Mohammed,
HKääriäinen,
Ade la Chapelle,
A ELehesjoki,
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PDF (710KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1994
数据来源: BMJ
|
| 7. |
Elucidation of structural abnormalities of the X chromosome using fluorescence in situ hybridisation with a Y chromosome painting probe. |
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Journal of Medical Genetics,
Volume 31,
Issue 3,
1994,
Page 206-208
R THowell,
RMillener,
SThorne,
JO'Loughlin,
JBrassey,
AMcDermott,
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PDF (745KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1994
数据来源: BMJ
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| 8. |
Thalassaemia in Azerbaijan. |
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Journal of Medical Genetics,
Volume 31,
Issue 3,
1994,
Page 209-212
A MKuliev,
I MRasulov,
TDadasheva,
E ISchwarz,
CRosatelli,
LSaba,
AMeloni,
EGemidjioglu,
MPetrou,
BModell,
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PDF (830KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1994
数据来源: BMJ
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| 9. |
Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis. |
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Journal of Medical Genetics,
Volume 31,
Issue 3,
1994,
Page 213-218
P EJardine,
P DCotter,
S AJohnson,
E JFitzsimons,
LTyfield,
P WLunt,
D FBishop,
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PDF (1206KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1994
数据来源: BMJ
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| 10. |
Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter. |
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Journal of Medical Genetics,
Volume 31,
Issue 3,
1994,
Page 219-221
WReardon,
Lvan Herwerden,
CRose,
BJones,
SMalcolm,
R MWinter,
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PDF (320KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1994
数据来源: BMJ
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