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| 1. |
Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W. |
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Journal of Medical Genetics,
Volume 34,
Issue 2,
1997,
Page 89-91
GAntiñolo,
SBorrego,
MGili,
JDapena,
IAlfageme,
FReina,
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PDF (508KB)
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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. |
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. |
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Journal of Medical Genetics,
Volume 34,
Issue 2,
1997,
Page 92-98
P LBeales,
A MWarner,
G AHitman,
RThakker,
F AFlinter,
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PDF (1515KB)
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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. |
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. |
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Journal of Medical Genetics,
Volume 34,
Issue 2,
1997,
Page 99-104
I SNaom,
MD'Alessandro,
HTopaloglu,
CSewry,
AFerlini,
AHelbling-Leclerc,
PGuicheney,
JWeissenbach,
KSchwartz,
KBushby,
JPhilpot,
VDubowitz,
FMuntoni,
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PDF (1495KB)
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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. |
Fucosidosis: genetic and biochemical analysis of eight cases. |
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Journal of Medical Genetics,
Volume 34,
Issue 2,
1997,
Page 105-110
HCragg,
MWilliamson,
EYoung,
JO'Brien,
JAlhadeff,
SFang-Kircher,
EPaschke,
BWinchester,
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PDF (1096KB)
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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. |
Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394. |
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Journal of Medical Genetics,
Volume 34,
Issue 2,
1997,
Page 111-116
I NDay,
LHaddad,
S DO'Dell,
L BDay,
R AWhittall,
S EHumphries,
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PDF (1240KB)
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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. |
Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. |
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Journal of Medical Genetics,
Volume 34,
Issue 2,
1997,
Page 117-121
MVotruba,
A TMoore,
S SBhattacharya,
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PDF (669KB)
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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. |
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I. |
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Journal of Medical Genetics,
Volume 34,
Issue 2,
1997,
Page 122-125
M CRosatelli,
AMeloni,
VFaa,
LSaba,
GCrisponi,
M GClemente,
GMeloni,
M TPiga,
ACao,
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PDF (679KB)
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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. |
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. |
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Journal of Medical Genetics,
Volume 34,
Issue 2,
1997,
Page 126-129
EGausden,
BCoyle,
J AArmour,
RCoffey,
AGrossman,
G RFraser,
R MWinter,
M EPembrey,
PKendall-Taylor,
DStephens,
L MLuxon,
P DPhelps,
WReardon,
RTrembath,
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PDF (872KB)
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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. |
Exclusion of CAG repeat expansion as the cause of disease in autosomal dominant retinitis pigmentosa families. |
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Journal of Medical Genetics,
Volume 34,
Issue 2,
1997,
Page 130-132
T JKeen,
A GMorris,
C FInglehearn,
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PDF (624KB)
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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. |
Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis. |
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Journal of Medical Genetics,
Volume 34,
Issue 2,
1997,
Page 133-136
L CWilson,
M EOude Luttikhuis,
MBaraitser,
H MKingston,
R CTrembath,
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PDF (1191KB)
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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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