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| 1. |
The epidemiology of anotia and microtia. |
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Journal of Medical Genetics,
Volume 33,
Issue 10,
1996,
Page 809-813
JHarris,
BKällén,
ERobert,
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ISSN:0022-2593
出版商:J Med Genet
年代:1996
数据来源: BMJ
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| 2. |
Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites. |
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Journal of Medical Genetics,
Volume 33,
Issue 10,
1996,
Page 814-819
FDurocher,
PTonin,
DShattuck-Eidens,
MSkolnick,
S ANarod,
JSimard,
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PDF (1568KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1996
数据来源: BMJ
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| 3. |
Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation. |
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Journal of Medical Genetics,
Volume 33,
Issue 10,
1996,
Page 820-822
CVazquez,
GAntiñolo,
TCasals,
JDapena,
JElorz,
J LSeculi,
JSirvent,
RCabanas,
CSoler,
XEstivill,
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PDF (594KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1996
数据来源: BMJ
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| 4. |
X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred. |
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Journal of Medical Genetics,
Volume 33,
Issue 10,
1996,
Page 823-828
J JMacKenzie,
JFitzpatrick,
PBabyn,
G BFerrero,
ABallabio,
GBillingsley,
D EBulman,
PStrasberg,
P NRay,
TCosta,
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PDF (1791KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1996
数据来源: BMJ
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| 5. |
Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain. |
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Journal of Medical Genetics,
Volume 33,
Issue 10,
1996,
Page 829-832
Mvan Bael,
M RNatowicz,
JTomczak,
E EGrebner,
E MPrence,
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PDF (857KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1996
数据来源: BMJ
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| 6. |
Locus heterogeneity in progressive familial intrahepatic cholestasis. |
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Journal of Medical Genetics,
Volume 33,
Issue 10,
1996,
Page 833-836
S SStrautnieks,
A FKagalwalla,
M STanner,
R MGardiner,
R JThompson,
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PDF (671KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1996
数据来源: BMJ
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| 7. |
Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population. |
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Journal of Medical Genetics,
Volume 33,
Issue 10,
1996,
Page 837-841
C LJames,
PRellos,
MAli,
A FHeeley,
T MCox,
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PDF (985KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1996
数据来源: BMJ
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| 8. |
Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome. |
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Journal of Medical Genetics,
Volume 33,
Issue 10,
1996,
Page 842-847
TDrumheller,
B CMcGillivray,
DBehrner,
PMacLeod,
D EMcFadden,
JRoberson,
CVenditti,
KChorney,
MChorney,
D ISmith,
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PDF (1249KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1996
数据来源: BMJ
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| 9. |
Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. |
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Journal of Medical Genetics,
Volume 33,
Issue 10,
1996,
Page 848-851
BHorsthemke,
AMaat-Kievit,
ESleegers,
Avan den Ouweland,
KBuiting,
CLich,
PMollevanger,
GBeverstock,
GGillessen-Kaesbach,
GSchwanitz,
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PDF (934KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1996
数据来源: BMJ
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| 10. |
Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22. |
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Journal of Medical Genetics,
Volume 33,
Issue 10,
1996,
Page 852-855
K SReddy,
VSulcova,
BSiassi,
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PDF (1346KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1996
数据来源: BMJ
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