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| 1. |
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. |
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Journal of Medical Genetics,
Volume 34,
Issue 9,
1997,
Page 705-713
K NNorth,
N GLaing,
CWallgren-Pettersson,
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
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| 2. |
The elusive Angelman syndrome critical region. |
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Journal of Medical Genetics,
Volume 34,
Issue 9,
1997,
Page 714-718
R JTrent,
L JSheffield,
Z MDeng,
W SKim,
N TNassif,
CRyce,
C GWoods,
R CMichaelis,
JTarleton,
ASmith,
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PDF (956KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
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| 3. |
Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome. |
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Journal of Medical Genetics,
Volume 34,
Issue 9,
1997,
Page 719-728
M WPartington,
KFagan,
VSoubjaki,
GTurner,
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PDF (2929KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
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| 4. |
Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease. |
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Journal of Medical Genetics,
Volume 34,
Issue 9,
1997,
Page 729-732
WMasson,
HHughes,
DPapworth,
YBoyd,
NHorn,
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PDF (811KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
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| 5. |
Oculocutaneous albinism in an isolated Tonga community in Zimbabwe. |
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Journal of Medical Genetics,
Volume 34,
Issue 9,
1997,
Page 733-735
P MLund,
NPuri,
DDurham-Pierre,
R AKing,
M HBrilliant,
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PDF (540KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
|
| 6. |
Unusual traits associated with Robinow syndrome. |
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Journal of Medical Genetics,
Volume 34,
Issue 9,
1997,
Page 736-740
M ASabry,
E AIsmail,
R Lal-Naggar,
N Aal-Torki,
SFarah,
S Aal-Awadi,
DObenbergerova,
LBastaki,
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PDF (2893KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
|
| 7. |
Cost effectiveness of DNA diagnosis for four monogenic diseases. |
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Journal of Medical Genetics,
Volume 34,
Issue 9,
1997,
Page 741-745
A Avan der Riet,
B Avan Hout,
F FRutten,
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PDF (884KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
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| 8. |
Uptake of genetic testing for cancer predisposition. |
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Journal of Medical Genetics,
Volume 34,
Issue 9,
1997,
Page 746-748
D GEvans,
E RMaher,
RMacleod,
D RDavies,
DCraufurd,
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PDF (645KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
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| 9. |
What do we mean by genetic testing? |
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Journal of Medical Genetics,
Volume 34,
Issue 9,
1997,
Page 749-752
P SHarper,
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PDF (674KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
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| 10. |
Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia. |
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Journal of Medical Genetics,
Volume 34,
Issue 9,
1997,
Page 753-757
AVerloes,
PMaquet,
BSadzot,
MVivario,
AThiry,
GFranck,
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PDF (1666KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
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