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| 1. |
Marfan syndrome: fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects. |
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Journal of Medical Genetics,
Volume 32,
Issue 1,
1995,
Page 1-6
C MKielty,
S JDavies,
J EPhillips,
C JJones,
C AShuttleworth,
S JCharles,
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 2. |
The profile of major congenital abnormalities in the United Arab Emirates (UAE) population. |
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Journal of Medical Genetics,
Volume 32,
Issue 1,
1995,
Page 7-13
L Ial-Gazali,
A HDawodu,
KSabarinathan,
MVarghese,
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PDF (1172KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 3. |
Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families. |
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Journal of Medical Genetics,
Volume 32,
Issue 1,
1995,
Page 14-18
M RPassos-Bueno,
ACerqueira,
MVainzof,
S KMarie,
MZatz,
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PDF (1071KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 4. |
Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. |
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Journal of Medical Genetics,
Volume 32,
Issue 1,
1995,
Page 19-24
MWarburg,
MBugge,
KBrøndum-Nielsen,
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PDF (1726KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 5. |
Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. |
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Journal of Medical Genetics,
Volume 32,
Issue 1,
1995,
Page 25-31
E CTwist,
L KCasaubon,
M HRuttledge,
V SRao,
P MMacleod,
JRadvany,
ZZhao,
R NRosenberg,
L AFarrer,
G ARouleau,
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PDF (1083KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 6. |
Difference in constitutive heterochromatin behaviour between human amniocytes and lymphocytes detected by a sequential in situ exonuclease III digestion-random primer extension procedure. |
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Journal of Medical Genetics,
Volume 32,
Issue 1,
1995,
Page 32-35
J LFernández,
ACampos,
CLópez-Fernández,
JGosálvez,
VGoyanes,
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PDF (1160KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 7. |
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. |
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Journal of Medical Genetics,
Volume 32,
Issue 1,
1995,
Page 36-38
KVuopala,
PMäkelä-Bengs,
ASuomalainen,
RHerva,
JLeisti,
LPeltonen,
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PDF (398KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 8. |
Cartilage-hair hypoplasia. |
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Journal of Medical Genetics,
Volume 32,
Issue 1,
1995,
Page 39-43
OMäkitie,
TSulisalo,
Ade la Chapelle,
IKaitila,
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PDF (1574KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 9. |
Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis. |
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Journal of Medical Genetics,
Volume 32,
Issue 1,
1995,
Page 44-47
R HBoerman,
R AOphoff,
T PLinks,
Rvan Eijk,
L ASandkuijl,
AElbaz,
J EVale-Santos,
A RWintzen,
J Cvan Deutekom,
D EIsles,
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PDF (605KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 10. |
Deletion patterns of Duchenne and Becker muscular dystrophies in Greece. |
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Journal of Medical Genetics,
Volume 32,
Issue 1,
1995,
Page 48-51
LFlorentin,
AMavrou,
KKekou,
CMetaxotou,
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PDF (597KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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