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| 1. |
Early onset asymmetrical intrauterine growth retardation with fetal hypokinesia and variable expression of acral and genitourinary malformations: a new lethal MCA syndrome |
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Journal of Medical Genetics,
Volume 40,
Issue 1,
2003,
Page 1-1
IWitters,
PMoerman,
F AVan Assche,
J-PFryns,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 2. |
Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome? |
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Journal of Medical Genetics,
Volume 40,
Issue 1,
2003,
Page 2-2
A-KJbour,
A FMubaidin,
MTill,
HEl-Shanti,
AHadidi,
K MAjlouni,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 3. |
Quality of life in a family based genetic cascade screening programme for familial hypercholesterolaemia: a longitudinal study among participants |
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Journal of Medical Genetics,
Volume 40,
Issue 1,
2003,
Page 3-3
M Cvan Maarle,
M E AStouthard,
G JBonsel,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 4. |
No association between theEN2gene and autistic disorder |
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Journal of Medical Genetics,
Volume 40,
Issue 1,
2003,
Page 4-4
HZhong,
F JSerajee,
RNabi,
A H M MahbubulHuq,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 5. |
No correlation between phenotype and genotype in boys with a truncatingMECP2mutation |
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Journal of Medical Genetics,
Volume 40,
Issue 1,
2003,
Page 5-5
KRavn,
J BNielsen,
PUldall,
F JHansen,
MSchwartz,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 6. |
Deletion in theABLgene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation |
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Journal of Medical Genetics,
Volume 40,
Issue 1,
2003,
Page 6-6
AAboura,
PLabrune,
FPerreaux,
VPoncet,
SBrisset,
LFoix-L’Helias,
GTachdjian,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 7. |
The severe form of type I hyperprolinaemia results from homozygous inactivation of thePRODHgene |
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Journal of Medical Genetics,
Volume 40,
Issue 1,
2003,
Page 7-7
HJacquet,
JBerthelot,
CBonnemains,
GSimard,
PSaugier-Veber,
GRaux,
DCampion,
DBonneau,
TFrebourg,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 8. |
Mutations inUSH2Ain Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation |
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Journal of Medical Genetics,
Volume 40,
Issue 1,
2003,
Page 8-8
SBernal,
CAyuso,
GAntiñolo,
AGimenez,
SBorrego,
M JTrujillo,
IMarcos,
MCalaf,
EDel Rio,
MBaiget,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 9. |
CYP1B1gene analysis in primary congenital glaucoma in Indonesian and European patients |
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Journal of Medical Genetics,
Volume 40,
Issue 1,
2003,
Page 9-9
RSitorus,
S MArdjo,
BLorenz,
MPreising,
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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| 10. |
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients |
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Journal of Medical Genetics,
Volume 40,
Issue 1,
2003,
Page 11-17
ILongo,
S G MFrints,
J-PFryns,
IMeloni,
CPescucci,
FAriani,
MBorghgraef,
MRaynaud,
PMarynen,
CSchwartz,
ARenieri,
GFroyen,
Preview
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ISSN:0022-2593
出版商:jmedgenet
年代:2003
数据来源: BMJ
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Volume 40 issue 1