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| 1. |
Mouse homologues of human hereditary disease. |
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Journal of Medical Genetics,
Volume 31,
Issue 1,
1994,
Page 1-19
A GSearle,
J HEdwards,
J GHall,
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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. |
Sotos syndrome: a study of the diagnostic criteria and natural history. |
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Journal of Medical Genetics,
Volume 31,
Issue 1,
1994,
Page 20-32
T RCole,
H EHughes,
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PDF (3705KB)
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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. |
French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion. |
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Journal of Medical Genetics,
Volume 31,
Issue 1,
1994,
Page 33-36
CLavedan,
HHofmann-Radvanyi,
CBoileau,
CBonaïti-Pellié,
DSavoy,
PShelbourne,
CDuros,
J PRabes,
IDehaupas,
SLuce,
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PDF (732KB)
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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. |
Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats. |
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Journal of Medical Genetics,
Volume 31,
Issue 1,
1994,
Page 37-40
AGoldman,
MRamsay,
TJenkins,
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PDF (708KB)
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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. |
Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues. |
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Journal of Medical Genetics,
Volume 31,
Issue 1,
1994,
Page 41-44
P MMatthews,
JHopkin,
R MBrown,
J BStephenson,
DHilton-Jones,
G KBrown,
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PDF (775KB)
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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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| 6. |
Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder. |
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Journal of Medical Genetics,
Volume 31,
Issue 1,
1994,
Page 45-50
SNørby,
PLestienne,
INelson,
I MNielsen,
HSchmalbruch,
OSjö,
MWarburg,
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PDF (1680KB)
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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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| 7. |
Ascertainment and severity of Marfan syndrome in a Scottish population. |
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Journal of Medical Genetics,
Volume 31,
Issue 1,
1994,
Page 51-54
J RGray,
A BBridges,
M JFaed,
TPringle,
PBaines,
JDean,
MBoxer,
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PDF (705KB)
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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. |
Genetic heterogeneity of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in families with familial adenomatous polyposis. |
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Journal of Medical Genetics,
Volume 31,
Issue 1,
1994,
Page 55-58
S VHodgson,
D TBishop,
BJay,
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PDF (733KB)
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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. |
The spectrum of beta thalassaemia mutations in the UAE national population. |
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Journal of Medical Genetics,
Volume 31,
Issue 1,
1994,
Page 59-61
RQuaife,
Lal-Gazali,
SAbbes,
PFitzgerald,
AFitches,
DValler,
J MOld,
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PDF (604KB)
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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. |
Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. |
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Journal of Medical Genetics,
Volume 31,
Issue 1,
1994,
Page 62-64
S PHorslen,
O WQuarrell,
M STanner,
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PDF (731KB)
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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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