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| 1. |
Friedreich ataxia: an overview |
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Journal of Medical Genetics,
Volume 37,
Issue 1,
2000,
Page 1-8
Martin BDelatycki,
RobertWilliamson,
Susan MForrest,
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ISSN:0022-2593
出版商:J Med Genet
年代:2000
数据来源: BMJ
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| 2. |
The molecular genetics of Marfan syndrome and related microfibrillopathies |
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Journal of Medical Genetics,
Volume 37,
Issue 1,
2000,
Page 9-25
Peter NRobinson,
MauriceGodfrey,
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PDF (380KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2000
数据来源: BMJ
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| 3. |
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? |
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Journal of Medical Genetics,
Volume 37,
Issue 1,
2000,
Page 26-32
WilliamReardon,
AnneSmith,
John WHonour,
PeterHindmarsh,
DebipriyaDas,
GillRumsby,
IsabelleNelson,
SueMalcolm,
LesleyAdès,
DavidSillence,
DhavendraKumar,
CeliaDeLozier-Blanchet,
ShaneMcKee,
ThaddeusKelly,
Wallace LMcKeehan,
MichaelBaraitser,
Robin MWinter,
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PDF (221KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2000
数据来源: BMJ
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| 4. |
An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14 |
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Journal of Medical Genetics,
Volume 37,
Issue 1,
2000,
Page 33-37
PeterLichtner,
RainerKönig,
TomonobuHasegawa,
HildeVan Esch,
ThomasMeitinger,
SimoneSchuffenhauer,
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PDF (201KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2000
数据来源: BMJ
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| 5. |
Prevalence of mitochondrial gene mutations among hearing impaired patients |
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Journal of Medical Genetics,
Volume 37,
Issue 1,
2000,
Page 38-40
Shin-ichiUsami,
SatokoAbe,
JiroAkita,
AtsushiNamba,
HideichiShinkawa,
MasanoriIshii,
SatoshiIwasaki,
TomoyukiHoshino,
JuichiIto,
KatsumiDoi,
TakeshiKubo,
TakashiNakagawa,
SohtaroKomiyama,
TetsuyaTono,
ShizuoKomune,
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PDF (97KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2000
数据来源: BMJ
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| 6. |
Prevalent connexin 26 gene (GJB2) mutations in Japanese |
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Journal of Medical Genetics,
Volume 37,
Issue 1,
2000,
Page 41-43
SatokoAbe,
Shin-ichiUsami,
HideichiShinkawa,
Philip MKelley,
William JKimberling,
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PDF (122KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2000
数据来源: BMJ
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| 7. |
A search for evidence of somatic mutations in theNF1gene |
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Journal of Medical Genetics,
Volume 37,
Issue 1,
2000,
Page 44-49
Alison MJohn,
MartinoRuggieri,
RosFerner,
MeenaUpadhyaya,
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PDF (259KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2000
数据来源: BMJ
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| 8. |
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350) |
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Journal of Medical Genetics,
Volume 37,
Issue 1,
2000,
Page 50-51
KirstenHeathcote,
PetrosSyrris,
Nicholas DCarter,
Michael APatton,
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PDF (122KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2000
数据来源: BMJ
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| 9. |
Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type |
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Journal of Medical Genetics,
Volume 37,
Issue 1,
2000,
Page 52-54
LaurenceFaivre,
MartineLe Merrer,
AndréMegarbane,
BrigitteGilbert,
GeertMortier,
VeronicaCusin,
ArnoldMunnich,
PierreMaroteaux,
ValérieCormier-Daire,
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PDF (168KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2000
数据来源: BMJ
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| 10. |
Mutational analysis of the tuberous sclerosis geneTSC2in patients with pulmonary lymphangioleiomyomatosis |
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Journal of Medical Genetics,
Volume 37,
Issue 1,
2000,
Page 55-57
AristotelisAstrinidis,
LeenaKhare,
ThomasCarsillo,
TeresaSmolarek,
Kit-SingAu,
HopeNorthrup,
Elizabeth PetriHenske,
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PDF (113KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2000
数据来源: BMJ
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Volume 37 issue 1