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| 1. |
Physical and psychomotor development of 1799 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype |
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Journal of Medical Genetics,
Volume 39,
Issue 12,
2002,
Page 75-75
IWitters,
PMoerman,
AVan Assche,
J-PFryns,
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ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
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| 2. |
Behavioural phenotype of Bardet-Biedl syndrome |
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Journal of Medical Genetics,
Volume 39,
Issue 12,
2002,
Page 76-76
SBarnett,
SReilly,
LCarr,
IOjo,
P LBeales,
TCharman,
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ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
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| 3. |
Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree |
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Journal of Medical Genetics,
Volume 39,
Issue 12,
2002,
Page 77-77
AStarling,
PRocco,
M RPassos-Bueno,
JHazan,
S KMarie,
MZatz,
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ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
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| 4. |
PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex |
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Journal of Medical Genetics,
Volume 39,
Issue 12,
2002,
Page 78-78
FSandrini,
L SKirschner,
TBei,
CFarmakidis,
JYasufuku-Takano,
KTakano,
T RPrezant,
S JMarx,
W EFarrell,
R NClayton,
LGroussin,
JBertherat,
C AStratakis,
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ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
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| 5. |
Hereditary duplication of proximal chromosome 1q (q11q22) in a patient with T lymphoblastic lymphoma/leukaemia: a family study using G banding and comparative genomic hybridisation |
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Journal of Medical Genetics,
Volume 39,
Issue 12,
2002,
Page 79-79
N P HChan,
M H LNg,
S HCheng,
VLee,
K STsang,
T TLau,
C KLi,
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ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
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| 6. |
A comparative study between infertile males and patients with Turner syndrome to determine the influence of sex chromosome mosaicism and the breakpoints of structurally abnormal Y chromosomes on phenotypic sex |
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Journal of Medical Genetics,
Volume 39,
Issue 12,
2002,
Page 80-80
C RQuilter,
NNathwani,
G SConway,
RStanhope,
DRalph,
GBahadur,
PSerhal,
KTaylor,
J D ADelhanty,
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ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
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| 7. |
Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies |
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Journal of Medical Genetics,
Volume 39,
Issue 12,
2002,
Page 81-81
NVandenberghe,
MUpadhyaya,
AGatignol,
LBoutrand,
MBoucherat,
GChazot,
AVandenberghe,
PLatour,
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ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
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| 8. |
Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNASer(UCN)gene |
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Journal of Medical Genetics,
Volume 39,
Issue 12,
2002,
Page 82-82
F Jdel Castillo,
MVillamar,
M AMoreno-Pelayo,
J JAlmela,
CMorera,
IAdiego,
FMoreno,
Idel Castillo,
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ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
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| 9. |
Correlation between a specific Wilms tumour suppressor gene (WT1) mutation and the histological findings in Wilms tumour (WT) |
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Journal of Medical Genetics,
Volume 39,
Issue 12,
2002,
Page 83-83
RShibata,
AHashiguchi,
JSakamoto,
TYamada,
AUmezawa,
JHata,
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ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
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| 10. |
Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics |
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Journal of Medical Genetics,
Volume 39,
Issue 12,
2002,
Page 84-84
CWright,
LKerzin-Storrar,
P RWilliamson,
AFryer,
ANjindou,
OQuarrell,
DDonnai,
DCraufurd,
Preview
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ISSN:0022-2593
出版商:jmedgenet
年代:2002
数据来源: BMJ
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