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| 1. |
Genetic susceptibility to non-polyposis colorectal cancer |
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Journal of Medical Genetics,
Volume 36,
Issue 11,
1999,
Page 801-818
Henry TLynch,
Albertde la Chapelle,
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ISSN:0022-2593
出版商:J Med Genet
年代:1999
数据来源: BMJ
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| 2. |
Strategies for screening for hereditary non-polyposis colorectal cancer |
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Journal of Medical Genetics,
Volume 36,
Issue 11,
1999,
Page 819-822
AnuLoukola,
Albertde la Chapelle,
Lauri AAaltonen,
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PDF (91KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1999
数据来源: BMJ
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| 3. |
A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD) |
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Journal of Medical Genetics,
Volume 36,
Issue 11,
1999,
Page 823-828
Silvère Mvan der Maarel,
GiancarloDeidda,
Richard J L FLemmers,
EgbertBakker,
Michiel J Rvan der Wielen,
LodewijkSandkuijl,
Jane EHewitt,
George WPadberg,
Rune RFrants,
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PDF (179KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1999
数据来源: BMJ
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| 4. |
Cx26deafness: mutation analysis and clinical variability |
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Journal of Medical Genetics,
Volume 36,
Issue 11,
1999,
Page 829-832
AMurgia,
EOrzan,
RPolli,
MMartella,
CVinanzi,
ELeonardi,
EArslan,
FZacchello,
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PDF (111KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1999
数据来源: BMJ
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| 5. |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations |
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Journal of Medical Genetics,
Volume 36,
Issue 11,
1999,
Page 833-836
GeorgiosLoudianos,
ValeriaDessi,
MarioLovicu,
AndreaAngius,
BuketAltuntas,
RaffaellaGiacchino,
MariaMarazzi,
MatildeMarcellini,
Maria RitaSartorelli,
Giacomo CarloSturniolo,
NurtenKocak,
AyselYuce,
NejatAkar,
MarioPirastu,
AntonioCao,
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PDF (97KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1999
数据来源: BMJ
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| 6. |
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria |
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Journal of Medical Genetics,
Volume 36,
Issue 11,
1999,
Page 837-842
S MPrice,
RStanhope,
CGarrett,
M APreece,
R CTrembath,
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PDF (181KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1999
数据来源: BMJ
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| 7. |
Club foot, an adverse outcome of early amniocentesis: disruption or deformation? |
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Journal of Medical Genetics,
Volume 36,
Issue 11,
1999,
Page 843-846
S AFarrell,
A MSummers,
LDallaire,
JSinger,
Jo-Ann MJohnson,
R DWilson,
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PDF (82KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1999
数据来源: BMJ
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| 8. |
Origins of accessory small ring marker chromosomes derived from chromosome 1 |
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Journal of Medical Genetics,
Volume 36,
Issue 11,
1999,
Page 847-853
D FCallen,
HEyre,
Y-YFang,
X-YGuan,
AVeleba,
N JMartin,
JMcGill,
E AHaan,
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PDF (146KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1999
数据来源: BMJ
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| 9. |
Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype |
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Journal of Medical Genetics,
Volume 36,
Issue 11,
1999,
Page 854-855
Shelley JKennedy,
Kyong-JinLee,
Brian WMcCrindle,
Ahmad STeebi,
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PDF (56KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1999
数据来源: BMJ
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| 10. |
Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia? |
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Journal of Medical Genetics,
Volume 36,
Issue 11,
1999,
Page 856-858
UMoog,
PMaroteaux,
C T R MSchrander-Stumpel,
Avan Ooij,
J J PSchrander,
J PFryns,
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PDF (118KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:1999
数据来源: BMJ
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