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| 1. |
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. |
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Journal of Medical Genetics,
Volume 32,
Issue 9,
1995,
Page 673-679
CWallgren-Pettersson,
AClarke,
FSamson,
MFardeau,
VDubowitz,
HMoser,
TGrimm,
R JBarohn,
P GBarth,
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PDF (2116KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 2. |
The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations. |
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Journal of Medical Genetics,
Volume 32,
Issue 9,
1995,
Page 680-688
MTuchman,
HMorizono,
OReish,
XYuan,
N MAllewell,
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PDF (2279KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 3. |
Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy. |
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Journal of Medical Genetics,
Volume 32,
Issue 9,
1995,
Page 689-691
ALópez de Munain,
A MCobo,
J JPoza,
DNavarrete,
LMartorell,
FPalau,
J IEmparanza,
MBaiget,
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PDF (524KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 4. |
Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome. |
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Journal of Medical Genetics,
Volume 32,
Issue 9,
1995,
Page 692-696
IBorg,
J DDelhanty,
MBaraitser,
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PDF (1154KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 5. |
Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I. |
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Journal of Medical Genetics,
Volume 32,
Issue 9,
1995,
Page 697-700
M CWilling,
R LSlayton,
S HPitts,
S PDeschenes,
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PDF (719KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 6. |
Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease. |
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Journal of Medical Genetics,
Volume 32,
Issue 9,
1995,
Page 701-705
NMasuda,
JGoto,
NMurayama,
MWatanabe,
IKondo,
IKanazawa,
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PDF (935KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 7. |
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. |
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Journal of Medical Genetics,
Volume 32,
Issue 9,
1995,
Page 706-710
MUpadhyaya,
JMaynard,
MOsborn,
S MHuson,
MPonder,
B APonder,
P SHarper,
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PDF (1752KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 8. |
Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm. |
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Journal of Medical Genetics,
Volume 32,
Issue 9,
1995,
Page 711-715
PSalo,
JIgnatius,
K OSimola,
ETahvanainen,
HKääriäinen,
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PDF (1530KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 9. |
Twenty-four cases of the EEC syndrome: clinical presentation and management. |
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Journal of Medical Genetics,
Volume 32,
Issue 9,
1995,
Page 716-723
P WBuss,
H EHughes,
AClarke,
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PDF (1993KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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| 10. |
Fetal valproate syndrome. |
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Journal of Medical Genetics,
Volume 32,
Issue 9,
1995,
Page 724-727
JClayton-Smith,
DDonnai,
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PDF (1498KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1995
数据来源: BMJ
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