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| 1. |
Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. |
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Journal of Medical Genetics,
Volume 32,
Issue 2,
1995,
Page 81-87
PRiordan-Eva,
A EHarding,
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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. |
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. |
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Journal of Medical Genetics,
Volume 32,
Issue 2,
1995,
Page 88-92
GGillessen-Kaesbach,
SGross,
SKaya-Westerloh,
EPassarge,
BHorsthemke,
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PDF (952KB)
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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. |
Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele. |
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Journal of Medical Genetics,
Volume 32,
Issue 2,
1995,
Page 93-96
R JDaniels,
LCampbell,
N RRodrigues,
M JFrancis,
K EMorrison,
MMcLean,
AMacKenzie,
JIgnatius,
VDubowitz,
K EDavies,
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PDF (861KB)
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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. |
The prenatal exclusion test for Huntington's disease: experience in the west of Scotland, 1986-1993. |
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Journal of Medical Genetics,
Volume 32,
Issue 2,
1995,
Page 97-101
J LTolmie,
H RDavidson,
H MMay,
KMcIntosh,
J SPaterson,
BSmith,
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PDF (916KB)
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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. |
Recurrence risk for germinal mosaics revisited. |
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Journal of Medical Genetics,
Volume 32,
Issue 2,
1995,
Page 102-104
M Avan der Meulen,
M Jvan der Meulen,
G Jte Meerman,
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PDF (563KB)
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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. |
Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy. |
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Journal of Medical Genetics,
Volume 32,
Issue 2,
1995,
Page 105-108
A MCobo,
J JPoza,
LMartorell,
ALópez de Munain,
J IEmparanza,
MBaiget,
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PDF (653KB)
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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. |
Cholinesterase variants: rapid characterisation by PCR/SSCP and evidence for molecular homogeneity. |
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Journal of Medical Genetics,
Volume 32,
Issue 2,
1995,
Page 109-112
THöhler,
MHundt,
CRittner,
P MSchneider,
K HMeyer zum Büschenfelde,
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PDF (1035KB)
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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. |
Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation. |
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Journal of Medical Genetics,
Volume 32,
Issue 2,
1995,
Page 113-116
D FCallen,
H JEyre,
GDolman,
M BGarry-Battersby,
J RMcCreanor,
AValeba,
J JMcGill,
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PDF (1093KB)
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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. |
Cowden syndrome. |
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Journal of Medical Genetics,
Volume 32,
Issue 2,
1995,
Page 117-119
A MHanssen,
J PFryns,
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PDF (740KB)
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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. |
DNA analysis of Huntington's disease in southern Chinese. |
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Journal of Medical Genetics,
Volume 32,
Issue 2,
1995,
Page 120-124
VChan,
Y LYu,
T PChan,
BYip,
C MChang,
M TWong,
Y WChan,
T KChan,
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PDF (836KB)
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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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