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| 1. |
The human genome project and medical genetics. |
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Journal of Medical Genetics,
Volume 29,
Issue 1,
1992,
Page 1-2
P SHarper,
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PDF (306KB)
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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. |
Charcot-Marie-Tooth disease type 1. |
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Journal of Medical Genetics,
Volume 29,
Issue 1,
1992,
Page 3-4
SMalcolm,
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PDF (412KB)
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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. |
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. |
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Journal of Medical Genetics,
Volume 29,
Issue 1,
1992,
Page 5-11
PRaeymaekers,
VTimmerman,
ENelis,
WVan Hul,
PDe Jonghe,
J JMartin,
CVan Broeckhoven,
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PDF (1587KB)
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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. |
Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. |
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Journal of Medical Genetics,
Volume 29,
Issue 1,
1992,
Page 12-13
J CMacMillan,
MUpadhyaya,
P SHarper,
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PDF (347KB)
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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. |
A TaqI map of the dystrophin gene useful for deletion and carrier status analysis. |
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Journal of Medical Genetics,
Volume 29,
Issue 1,
1992,
Page 14-19
A PWalker,
N GLaing,
TYamada,
D CChandler,
B AKakulas,
R JBartlett,
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PDF (1155KB)
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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. |
UK clinicians' knowledge of and attitudes to the prenatal diagnosis of single gene disorders. |
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Journal of Medical Genetics,
Volume 29,
Issue 1,
1992,
Page 20-23
H VFirth,
R HLindenbaum,
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PDF (595KB)
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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. |
Effects of genetic screening on perceptions of health: a pilot study. |
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Journal of Medical Genetics,
Volume 29,
Issue 1,
1992,
Page 24-26
T MMarteau,
Mvan Duijn,
IEllis,
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PDF (570KB)
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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. |
What is Pi (proteinase inhibitor) null or PiQO?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation. |
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Journal of Medical Genetics,
Volume 29,
Issue 1,
1992,
Page 27-29
NKalsheker,
KHayes,
SWeidinger,
AGraham,
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PDF (592KB)
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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. |
The cyclops and the mermaid: an epidemiological study of two types of rare malformation. |
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Journal of Medical Genetics,
Volume 29,
Issue 1,
1992,
Page 30-35
BKällén,
E ECastilla,
P ALancaster,
OMutchinick,
L BKnudsen,
M LMartínez-Frías,
PMastroiacovo,
ERobert,
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PDF (1166KB)
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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. |
Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers. |
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Journal of Medical Genetics,
Volume 29,
Issue 1,
1992,
Page 36-40
L Dvan Osch,
A POranje,
F MKeukens,
P Cvan Voorst Vader,
EVeldman,
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PDF (1431KB)
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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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