| 1. |
Hereditary motor and sensory neuropathies. |
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Journal of Medical Genetics,
Volume 28,
Issue 1,
1991,
Page 1-5
J MVance,
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ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
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| 2. |
An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes. |
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Journal of Medical Genetics,
Volume 28,
Issue 1,
1991,
Page 6-9
CCooper,
J ACrolla,
CLaister,
D IJohnston,
PCooke,
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ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 3. |
Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review. |
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Journal of Medical Genetics,
Volume 28,
Issue 1,
1991,
Page 10-17
K DMacDermot,
R MWinter,
J SWigglesworth,
SStrobel,
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ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 4. |
Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'. |
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Journal of Medical Genetics,
Volume 28,
Issue 1,
1991,
Page 18-26
K DMacDermot,
R MWinter,
DTaylor,
MBaraitser,
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PDF (1234KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 5. |
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. |
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Journal of Medical Genetics,
Volume 28,
Issue 1,
1991,
Page 27-33
P DTurnpenny,
R JThwaites,
F NBoulos,
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ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 6. |
Association of less common cystic fibrosis mutations with a mild phenotype. |
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Journal of Medical Genetics,
Volume 28,
Issue 1,
1991,
Page 34-37
ACurtis,
RNelson,
MPorteous,
JBurn,
S SBhattacharya,
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PDF (662KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 7. |
Two distinct mutations at a single BamHI site in phenylketonuria. |
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Journal of Medical Genetics,
Volume 28,
Issue 1,
1991,
Page 38-40
DMelle,
PVerelst,
FRey,
MBerthelon,
BFrançois,
AMunnich,
SLyonnet,
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PDF (592KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 8. |
The sex ratios of probands and of secondary cases in conditions of multifactorial inheritance where liability varies with sex. |
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Journal of Medical Genetics,
Volume 28,
Issue 1,
1991,
Page 41-43
W HJames,
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PDF (367KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 9. |
Aarskog syndrome. |
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Journal of Medical Genetics,
Volume 28,
Issue 1,
1991,
Page 44-47
M EPorteous,
D RGoudie,
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PDF (900KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
|
| 10. |
Growth hormone deficiency in a girl with the Cohen syndrome. |
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Journal of Medical Genetics,
Volume 28,
Issue 1,
1991,
Page 48-50
GMassa,
LDooms,
MVanderschueren-Lodeweyckx,
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PDF (439KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1991
数据来源: BMJ
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Volume 28 issue 1