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| 1. |
The morbid anatomy of the human genome: chromosomal location of mutations causing disease. |
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Journal of Medical Genetics,
Volume 30,
Issue 1,
1993,
Page 1-26
V AMcKusick,
J SAmberger,
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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. |
The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. |
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Journal of Medical Genetics,
Volume 30,
Issue 1,
1993,
Page 27-35
W GCole,
R KHall,
J GRogers,
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PDF (3496KB)
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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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| 3. |
Holoprosencephaly: a family showing dominant inheritance and variable expression. |
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Journal of Medical Genetics,
Volume 30,
Issue 1,
1993,
Page 36-40
A LCollins,
P WLunt,
CGarrett,
N RDennis,
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PDF (1509KB)
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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. |
Variability of expression in tuberous sclerosis. |
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Journal of Medical Genetics,
Volume 30,
Issue 1,
1993,
Page 41-43
HNorthrup,
J WWheless,
T KBertin,
R ALewis,
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PDF (591KB)
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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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| 5. |
Parental age, genetic mutation, and cerebral palsy. |
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Journal of Medical Genetics,
Volume 30,
Issue 1,
1993,
Page 44-46
N AFletcher,
JFoley,
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PDF (555KB)
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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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| 6. |
Exclusion of familial dysautonomia from more than 60% of the genome. |
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Journal of Medical Genetics,
Volume 30,
Issue 1,
1993,
Page 47-52
ABlumenfeld,
F BAxelrod,
J ATrofatter,
CMaayan,
D ELucente,
S ASlaugenhaupt,
C BLiebert,
L JOzelius,
J LHaines,
X OBreakefield,
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PDF (974KB)
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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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| 7. |
Incontinentia pigmenti (Bloch-Sulzberger syndrome). |
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Journal of Medical Genetics,
Volume 30,
Issue 1,
1993,
Page 53-59
S JLandy,
DDonnai,
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PDF (2303KB)
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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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| 8. |
The rapid analysis of dystrophin gene deletions shows variable electrophoretic mobility. |
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Journal of Medical Genetics,
Volume 30,
Issue 1,
1993,
Page 60-61
B ANeilan,
D ALeigh,
B LMcDonald,
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PDF (379KB)
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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. |
The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review. |
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Journal of Medical Genetics,
Volume 30,
Issue 1,
1993,
Page 62-64
T IFarag,
S Aal-Awadi,
M JMarafie,
LBastaki,
S Aal-Othman,
F MMohammed,
I SAlSuliman,
D SMurthy,
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PDF (838KB)
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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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| 10. |
Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance. |
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Journal of Medical Genetics,
Volume 30,
Issue 1,
1993,
Page 65-69
GCamera,
GFerraiolo,
DLeo,
ASpaziale,
SPozzolo,
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PDF (1738KB)
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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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