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| 1. |
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22. |
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Journal of Medical Genetics,
Volume 34,
Issue 3,
1997,
Page 177-183
Vdes Portes,
J MPinard,
DSmadja,
JMotte,
OBoespflüg-Tanguy,
M LMoutard,
IDesguerre,
PBilluart,
ACarrie,
TBienvenu,
M CVinet,
LBachner,
CBeldjord,
ODulac,
AKahn,
GPonsot,
JChelly,
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PDF (1593KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
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| 2. |
Hereditary spinal neurofibromatosis: a rare form of NF1? |
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Journal of Medical Genetics,
Volume 34,
Issue 3,
1997,
Page 184-187
MPoyhonen,
E LLeisti,
SKytölä,
JLeisti,
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PDF (814KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
|
| 3. |
Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion. |
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Journal of Medical Genetics,
Volume 34,
Issue 3,
1997,
Page 188-190
M CDigilio,
BMarino,
AGiannotti,
AToscano,
BDallapiccola,
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PDF (564KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
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| 4. |
Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193. |
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Journal of Medical Genetics,
Volume 34,
Issue 3,
1997,
Page 191-195
R HFlomen,
P AGorman,
RVatcheva,
JGroet,
IBarisić,
ILigutić,
DSheer,
DNizetić,
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PDF (1123KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
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| 5. |
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. |
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Journal of Medical Genetics,
Volume 34,
Issue 3,
1997,
Page 196-202
RTupler,
G LMarseglia,
MStefanini,
EProsperi,
LChessa,
TNardo,
AMarchi,
PMaraschio,
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PDF (1682KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
|
| 6. |
Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population. |
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Journal of Medical Genetics,
Volume 34,
Issue 3,
1997,
Page 203-206
RWallerstein,
C EAnderson,
BHay,
PGupta,
LGibas,
KAnsari,
F SCowchock,
VWeinblatt,
CReid,
ALevitas,
LJackson,
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PDF (656KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
|
| 7. |
A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. |
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Journal of Medical Genetics,
Volume 34,
Issue 3,
1997,
Page 207-212
J ACrolla,
J ECawdery,
C AOley,
I DYoung,
JGray,
JFantes,
Vvan Heyningen,
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PDF (1358KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
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| 8. |
Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. |
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Journal of Medical Genetics,
Volume 34,
Issue 3,
1997,
Page 213-216
KNarahara,
EBaker,
SIto,
YYokoyama,
SYu,
DHewitt,
G RSutherland,
M REccles,
R IRichards,
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PDF (1047KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
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| 9. |
Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies. |
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Journal of Medical Genetics,
Volume 34,
Issue 3,
1997,
Page 217-222
CMignon,
FParente,
CStavropoulou,
PCollignon,
AMoncla,
CTurc-Carel,
M GMattei,
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PDF (1538KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
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| 10. |
Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene. |
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Journal of Medical Genetics,
Volume 34,
Issue 3,
1997,
Page 223-228
ABobba,
AIolascon,
SGiannattasio,
MAlbrizio,
ASinisi,
FPrisco,
FSchettini,
EMarra,
Preview
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PDF (1116KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
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