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| 1. |
Spinal muscular atrophy: untangling the knot? |
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Journal of Medical Genetics,
Volume 36,
Issue 1,
1999,
Page 1-8
IvanBiros,
SusanForrest,
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PDF (209KB)
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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. |
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation |
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Journal of Medical Genetics,
Volume 36,
Issue 1,
1999,
Page 9-13
ElisabethLajeunie,
VincentEl Ghouzzi,
MartineLe Merrer,
ArnoldMunnich,
JackyBonaventure,
DominiqueRenier,
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PDF (198KB)
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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. |
Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition |
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Journal of Medical Genetics,
Volume 36,
Issue 1,
1999,
Page 14-20
Yvonne LWallis,
Dion GMorton,
Carole MMcKeown,
FionaMacdonald,
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PDF (166KB)
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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. |
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome) |
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Journal of Medical Genetics,
Volume 36,
Issue 1,
1999,
Page 21-27
PeiningLi,
Amy BBellows,
Jerry NThompson,
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PDF (240KB)
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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. |
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations |
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Journal of Medical Genetics,
Volume 36,
Issue 1,
1999,
Page 28-32
SusannaBunge,
AstridKnigge,
CordulaSteglich,
Wim JKleijer,
Otto Pvan Diggelen,
MichaelBeck,
AndreasGal,
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PDF (147KB)
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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. |
Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36 |
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Journal of Medical Genetics,
Volume 36,
Issue 1,
1999,
Page 33-40
JuliaZguricas,
HenkHeus,
EstelaMorales-Peralta,
GuidoBreedveld,
BertusKuyt,
Ethem FMumcu,
WendelaBakker,
NurtenAkarsu,
Simon P JKay,
Steven E RHovius,
LuisHeredero-Baute,
Ben AOostra,
PeterHeutink,
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PDF (229KB)
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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. |
Cystic fibrosis carrier frequencies in populations of African origin |
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Journal of Medical Genetics,
Volume 36,
Issue 1,
1999,
Page 41-44
CarolynPadoa,
AndreaGoldman,
TreforJenkins,
MicheleRamsay,
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PDF (107KB)
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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. |
Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism |
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Journal of Medical Genetics,
Volume 36,
Issue 1,
1999,
Page 45-50
Clare MConn,
JeanCozzi,
Joyce CHarper,
Robert M LWinston,
Joy D ADelhanty,
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PDF (156KB)
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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. |
Sotos syndrome and cutis laxa |
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Journal of Medical Genetics,
Volume 36,
Issue 1,
1999,
Page 51-56
Stephen PRobertson,
AgnesBankier,
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PDF (232KB)
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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. |
A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family |
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Journal of Medical Genetics,
Volume 36,
Issue 1,
1999,
Page 57-58
Jian YXuan,
Rhiannon MHughes-Benzie,
Alex EMacKenzie,
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PDF (102KB)
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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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Volume 36 issue 1