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| 1. |
Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115. |
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Journal of Medical Genetics,
Volume 27,
Issue 3,
1990,
Page 145-150
M RPassos-Bueno,
DRapaport,
DLove,
TFlint,
E RBortolini,
MZatz,
K EDavies,
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PDF (1064KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1990
数据来源: BMJ
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| 2. |
A Chinese familial growth hormone deficiency with a deletion of 7.1 kb of DNA. |
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Journal of Medical Genetics,
Volume 27,
Issue 3,
1990,
Page 151-154
Y AHe,
S SChen,
Y XWang,
X YLin,
D FWang,
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PDF (711KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1990
数据来源: BMJ
|
| 3. |
Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16. |
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Journal of Medical Genetics,
Volume 27,
Issue 3,
1990,
Page 155-159
D FCallen,
M LRingenbergs,
J CFowler,
C JFreemantle,
E AHaan,
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PDF (985KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1990
数据来源: BMJ
|
| 4. |
Cranial hemihypertrophy and neurodevelopmental prognosis. |
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Journal of Medical Genetics,
Volume 27,
Issue 3,
1990,
Page 160-164
J CDean,
G FCole,
R EAppleton,
JBurn,
S ARoberts,
DDonnai,
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PDF (1134KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1990
数据来源: BMJ
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| 5. |
EEC syndrome without ectrodactyly: report of two new families. |
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Journal of Medical Genetics,
Volume 27,
Issue 3,
1990,
Page 165-168
J PFryns,
ELegius,
A MDereymaeker,
HVan den Berghe,
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PDF (1095KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1990
数据来源: BMJ
|
| 6. |
Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum? |
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Journal of Medical Genetics,
Volume 27,
Issue 3,
1990,
Page 169-175
L ABrueton,
S MHuson,
BFarren,
R MWinter,
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PDF (1830KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1990
数据来源: BMJ
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| 7. |
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. |
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Journal of Medical Genetics,
Volume 27,
Issue 3,
1990,
Page 176-179
S AHawkins,
N CNevin,
A EHarding,
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PDF (538KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1990
数据来源: BMJ
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| 8. |
Focal dermal hypoplasia (Goltz syndrome). |
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Journal of Medical Genetics,
Volume 27,
Issue 3,
1990,
Page 180-187
I KTemple,
PMacDowall,
MBaraitser,
D JAtherton,
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PDF (1983KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1990
数据来源: BMJ
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| 9. |
Multiple abnormalities in a child with partial duplications of 10p and 13q from a 3:1 segregation of a maternal t(10;13) translocation. |
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Journal of Medical Genetics,
Volume 27,
Issue 3,
1990,
Page 188-191
M YYip,
JWilliams,
AGoddard,
PCampbell,
ILambert,
R WSmithells,
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PDF (718KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1990
数据来源: BMJ
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| 10. |
Microphthalmia with single central incisor and hypopituitarism. |
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Journal of Medical Genetics,
Volume 27,
Issue 3,
1990,
Page 192-193
H GArtman,
EBoyden,
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PDF (328KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1990
数据来源: BMJ
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