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| 1. |
CATCH 22. |
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Journal of Medical Genetics,
Volume 30,
Issue 10,
1993,
Page 801-802
J GHall,
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PDF (384KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1993
数据来源: BMJ
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| 2. |
DiGeorge syndrome: an historical review of clinical and cytogenetic features. |
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Journal of Medical Genetics,
Volume 30,
Issue 10,
1993,
Page 803-806
FGreenberg,
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PDF (786KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1993
数据来源: BMJ
|
| 3. |
Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. |
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Journal of Medical Genetics,
Volume 30,
Issue 10,
1993,
Page 807-812
EGoldmuntz,
DDriscoll,
M LBudarf,
E HZackai,
D MMcDonald-McGinn,
J ABiegel,
B SEmanuel,
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PDF (1200KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1993
数据来源: BMJ
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| 4. |
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. |
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Journal of Medical Genetics,
Volume 30,
Issue 10,
1993,
Page 813-817
D ADriscoll,
JSalvin,
BSellinger,
M LBudarf,
D MMcDonald-McGinn,
E HZackai,
B SEmanuel,
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PDF (1151KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1993
数据来源: BMJ
|
| 5. |
Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134). |
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Journal of Medical Genetics,
Volume 30,
Issue 10,
1993,
Page 818-821
RWadey,
SDaw,
AWickremasinghe,
CRoberts,
DWilson,
JGoodship,
JBurn,
SHalford,
P JScambler,
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PDF (786KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1993
数据来源: BMJ
|
| 6. |
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. |
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Journal of Medical Genetics,
Volume 30,
Issue 10,
1993,
Page 822-824
JBurn,
ATakao,
DWilson,
ICross,
KMomma,
RWadey,
PScambler,
JGoodship,
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PDF (730KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1993
数据来源: BMJ
|
| 7. |
Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. |
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Journal of Medical Genetics,
Volume 30,
Issue 10,
1993,
Page 825-827
S EHolder,
R MWinter,
SKamath,
P JScambler,
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PDF (537KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1993
数据来源: BMJ
|
| 8. |
High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype. |
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Journal of Medical Genetics,
Volume 30,
Issue 10,
1993,
Page 828-832
D FCallen,
HEyre,
SLane,
YShen,
IHansmann,
NSpinner,
EZackai,
DMcDonald-McGinn,
SSchuffenhauer,
JWauters,
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PDF (962KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1993
数据来源: BMJ
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| 9. |
CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X. |
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Journal of Medical Genetics,
Volume 30,
Issue 10,
1993,
Page 833-837
KWill,
JReiss,
MDean,
MSchlösser,
RSlomski,
JSchmidtke,
MStuhrmann,
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PDF (980KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1993
数据来源: BMJ
|
| 10. |
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. |
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Journal of Medical Genetics,
Volume 30,
Issue 10,
1993,
Page 838-842
AMeindl,
DHosenfeld,
WBrückl,
SSchuffenhauer,
JJenderny,
ABacskulin,
H COppermann,
OSwensson,
PBouloux,
TMeitinger,
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PDF (1387KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1993
数据来源: BMJ
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