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| 1. |
Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation |
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Journal of Medical Genetics,
Volume 41,
Issue 1,
2004,
Page 1-1
NJamshidi,
IMacciocca,
P ADargaville,
PThomas,
NKilpatrick,
R JMcKinlay Gardner,
P GFarlie,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 2. |
Linkage mapping of systemic lupus erythematosus (SLE) in Finnish families multiply affected by SLE |
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Journal of Medical Genetics,
Volume 41,
Issue 1,
2004,
Page 2-5
SKoskenmies,
PLahermo,
HJulkunen,
VOllikainen,
JKere,
EWidén,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 3. |
Induction of instability of normal length trinucleotide repeats within human disease genes |
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Journal of Medical Genetics,
Volume 41,
Issue 1,
2004,
Page 3-3
LFernàndez-López,
EPiñeiro,
RMarcos,
AVelázquez,
JSurrallés,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 4. |
Epigenetic abnormalities of themannose-6-phosphate/IGF2 receptorgene are uncommon in human overgrowth syndromes |
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Journal of Medical Genetics,
Volume 41,
Issue 1,
2004,
Page 4-4
CGicquel,
JWeiss,
JAmiel,
VGaston,
YLe Bouc,
C DScott,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 5. |
Genetic correlation between plasma levels of C4BP isoforms containing β chains and susceptibility to thrombosis |
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Journal of Medical Genetics,
Volume 41,
Issue 1,
2004,
Page 5-5
JEsparza-Gordillo,
J MSoria,
ABuil,
J CSouto,
LAlmasy,
JBlangero,
S Rde Córdoba,
JFontcuberta,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 6. |
Founder mutations ofCYP1B1gene in patients with congenital glaucoma from the United States and Brazil |
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Journal of Medical Genetics,
Volume 41,
Issue 1,
2004,
Page 6-6
D FSena,
SFinzi,
KRodgers,
EDel Bono,
J LHaines,
J LWiggs,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 7. |
No evidence of an association between the T16189C mtDNA variant and late onset dementia |
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Journal of Medical Genetics,
Volume 41,
Issue 1,
2004,
Page 7-7
A MGibson,
J AEdwardson,
D MTurnbull,
I GMcKeith,
C MMorris,
P FChinnery,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 8. |
Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders |
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Journal of Medical Genetics,
Volume 41,
Issue 1,
2004,
Page 8-8
KOhno,
A GEngel,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 9. |
A novelCOCHmutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss |
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Journal of Medical Genetics,
Volume 41,
Issue 1,
2004,
Page 9-9
INagy,
MHorváth,
MTrexler,
GRépássy,
LPatthy,
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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| 10. |
Clinical and genetic characteristics of α cardiac actin gene mutations in hypertrophic cardiomyopathy |
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Journal of Medical Genetics,
Volume 41,
Issue 1,
2004,
Page 10-10
JMogensen,
APerrot,
P SAndersen,
OHavndrup,
I CKlausen,
MChristiansen,
PBross,
HEgeblad,
HBundgaard,
K JOsterziel,
GHaltern,
HLapp,
PReinecke,
NGregersen,
A DBørglum,
Preview
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ISSN:0022-2593
出版商:jmedgenet
年代:2004
数据来源: BMJ
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Volume 41 issue 1