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| 1. |
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. |
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Journal of Medical Genetics,
Volume 34,
Issue 6,
1997,
Page 441-446
SKang,
JAllen,
J MGraham,
TGrebe,
CClericuzio,
NPatronas,
FOndrey,
EGreen,
ASchäffer,
MAbbott,
L GBiesecker,
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PDF (1492KB)
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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. |
The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1). |
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Journal of Medical Genetics,
Volume 34,
Issue 6,
1997,
Page 447-452
RMorell,
T BFriedman,
J HAsher,
L GRobbins,
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PDF (1281KB)
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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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| 3. |
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. |
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Journal of Medical Genetics,
Volume 34,
Issue 6,
1997,
Page 453-458
ASwillen,
KDevriendt,
ELegius,
BEyskens,
MDumoulin,
MGewillig,
J PFryns,
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PDF (1143KB)
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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. |
The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP. |
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Journal of Medical Genetics,
Volume 34,
Issue 6,
1997,
Page 459-464
N EHartley,
DScotcher,
HHarris,
PWilliamson,
AWallace,
DCraufurd,
RHarris,
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PDF (1118KB)
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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. |
Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation. |
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Journal of Medical Genetics,
Volume 34,
Issue 6,
1997,
Page 465-469
R EStevenson,
BHäne,
J FArena,
MMay,
LLawrence,
H ALubs,
C ESchwartz,
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PDF (1219KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1997
数据来源: BMJ
|
| 6. |
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). |
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Journal of Medical Genetics,
Volume 34,
Issue 6,
1997,
Page 470-475
ACarrié,
FPiccolo,
FLeturcq,
Cde Toma,
KAzibi,
CBeldjord,
J MVallat,
LMerlini,
TVoit,
CSewry,
J AUrtizberea,
NRomero,
F MTomé,
MFardeau,
YSunada,
K PCampbell,
J CKaplan,
MJeanpierre,
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PDF (1277KB)
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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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| 7. |
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. |
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Journal of Medical Genetics,
Volume 34,
Issue 6,
1997,
Page 476-479
MUpadhyaya,
JMaynard,
M TRogers,
P WLunt,
PJardine,
DRavine,
P SHarper,
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PDF (791KB)
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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. |
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. |
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Journal of Medical Genetics,
Volume 34,
Issue 6,
1997,
Page 480-483
SLindsay,
MIreland,
OO'Brien,
JClayton-Smith,
J AHurst,
JMann,
TCole,
JSampson,
SSlaney,
DSchlessinger,
JBurn,
GPilia,
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PDF (950KB)
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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. |
Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia. |
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Journal of Medical Genetics,
Volume 34,
Issue 6,
1997,
Page 484-488
R ABrooimans,
A Jvan den Berg,
G TRijkers,
L ASanders,
J Kvan Amstel,
M GTilanus,
M JGrubben,
B JZegers,
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PDF (1171KB)
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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. |
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. |
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Journal of Medical Genetics,
Volume 34,
Issue 6,
1997,
Page 489-492
Cvon Schnakenburg,
GRumsby,
Preview
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PDF (832KB)
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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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