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| 1. |
Fragile X syndrome is less common than previously estimated. |
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Journal of Medical Genetics,
Volume 34,
Issue 1,
1997,
Page 1-5
J EMorton,
SBundey,
T PWebb,
FMacDonald,
P MRindl,
SBullock,
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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. |
Maternal uniparental disomy 7 in Silver-Russell syndrome. |
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Journal of Medical Genetics,
Volume 34,
Issue 1,
1997,
Page 6-9
M APreece,
S MPrice,
VDavies,
LClough,
PStanier,
R CTrembath,
G EMoore,
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PDF (753KB)
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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. |
No evidence for uniparental disomy as a common cause of Sotos syndrome. |
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Journal of Medical Genetics,
Volume 34,
Issue 1,
1997,
Page 10-12
MSmith,
PFullwood,
YQi,
SPalmer,
MUpadhyaya,
TCole,
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PDF (544KB)
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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. |
Clinical, cytogenetic, and molecular analysis of three families with FRAXE. |
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Journal of Medical Genetics,
Volume 34,
Issue 1,
1997,
Page 13-17
A JBarnicoat,
QWang,
JTurk,
EGreen,
C GMathew,
GFlynn,
VBuckle,
MHirst,
KDavies,
MBobrow,
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PDF (1176KB)
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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. |
At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation. |
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Journal of Medical Genetics,
Volume 34,
Issue 1,
1997,
Page 18-23
DSmeets,
Cvan Ravenswaaij,
Jde Pater,
KGerssen-Schoorl,
JVan Hemel,
GJanssen,
ASmits,
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PDF (1609KB)
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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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| 6. |
46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis. |
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Journal of Medical Genetics,
Volume 34,
Issue 1,
1997,
Page 24-27
C PVenditti,
N KSeese,
G SGerhard,
A ETen Elshof,
K AChorney,
P NMowrey,
P GLacey,
J HKnoll,
M JChorney,
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PDF (828KB)
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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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| 7. |
Recombinations defining centromeric and telomeric borders for the hereditary haemochromatosis locus. |
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Journal of Medical Genetics,
Volume 34,
Issue 1,
1997,
Page 28-33
R SAjioka,
PYu,
J RGruen,
C QEdwards,
L MGriffen,
J PKushner,
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PDF (849KB)
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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. |
Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III. |
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Journal of Medical Genetics,
Volume 34,
Issue 1,
1997,
Page 34-38
JShen,
H MLiu,
YBao,
Y TChen,
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PDF (1336KB)
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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. |
Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. |
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Journal of Medical Genetics,
Volume 34,
Issue 1,
1997,
Page 39-42
I PTomlinson,
N EBeck,
THomfray,
C JHarocopos,
W FBodmer,
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PDF (787KB)
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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. |
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. |
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Journal of Medical Genetics,
Volume 34,
Issue 1,
1997,
Page 43-49
VTimmerman,
BRautenstrauss,
L TReiter,
TKoeuth,
ALöfgren,
TLiehr,
ENelis,
K DBathke,
PDe Jonghe,
HGrehl,
J JMartin,
J RLupski,
CVan Broeckhoven,
Preview
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PDF (1821KB)
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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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