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| 1. |
SHOXhaploinsufficiency and overdosage: impact of gonadal function status |
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Journal of Medical Genetics,
Volume 38,
Issue 1,
2001,
Page 1-6
TsutomuOgata,
NobutakeMatsuo,
GenNishimura,
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 2. |
Mosaic terminal del(19)(q13.33:) in a girl with seizures and mental retardation |
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Journal of Medical Genetics,
Volume 38,
Issue 1,
2001,
Page 2-2
RUTH VMIKELSAAR,
KADIVARB,
ANNELISÜVARI,
ALBERTSCHINZEL,
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 3. |
Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain |
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Journal of Medical Genetics,
Volume 38,
Issue 1,
2001,
Page 3-3
KRYSTYNA HCHRZANOWSKA,
MARKUSSTUMM,
MONIKABEKIESIŃSKA-FIGATOWSKA,
RAYMONDAVARON,
MAGDALENABIAŁECKA,
HANNAGREGOREK,
JACEKMICHAŁKIEWICZ,
MAŁGORZATAKRAJEWSKA-WALASEK,
SERGIUSZJÓŹWIAK,
ANDRÉREIS,
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 4. |
A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family |
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Journal of Medical Genetics,
Volume 38,
Issue 1,
2001,
Page 4-4
NICOLEMONNIER,
JEAN-PIERREGOUT,
ISABELLEPIN,
GENEVIÈVEGAUTHIER,
JOELLUNARDI,
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 5. |
Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis betweenPSORS1and candidate loci |
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Journal of Medical Genetics,
Volume 38,
Issue 1,
2001,
Page 7-13
C DVeal,
R LClough,
R CBarber,
SMason,
DTillman,
BFerry,
A BJones,
MAmeen,
NBalendran,
S HPowis,
A DBurden,
J N W NBarker,
R CTrembath,
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 6. |
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases |
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Journal of Medical Genetics,
Volume 38,
Issue 1,
2001,
Page 14-19
Pde Lonlay,
NSeta,
SBarrot,
BChabrol,
VDrouin,
B MGabriel,
HJournel,
MKretz,
JLaurent,
MLe Merrer,
ALeroy,
DPedespan,
PSarda,
NVilleneuve,
JSchmitz,
Evan Schaftingen,
GMatthijs,
JJaeken,
CKorner,
AMunnich,
J MSaudubray,
VCormier-Daire,
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 7. |
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss |
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Journal of Medical Genetics,
Volume 38,
Issue 1,
2001,
Page 20-25
Mark JHouseman,
Lucy AEllis,
AlistairPagnamenta,
Wei-LiDi,
SarahRickard,
Amelia HOsborn,
Hans-Henrik MDahl,
Graham RTaylor,
MariaBitner-Glindzicz,
WilliamReardon,
Robert FMueller,
David PKelsell,
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PDF (221KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 8. |
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14 |
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Journal of Medical Genetics,
Volume 38,
Issue 1,
2001,
Page 26-34
PaolaUngaro,
Susan LChristian,
Judy AFantes,
ApiwatMutirangura,
SusanBlack,
JamesReynolds,
SueMalcolm,
William BDobyns,
David HLedbetter,
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PDF (333KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 9. |
Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion |
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Journal of Medical Genetics,
Volume 38,
Issue 1,
2001,
Page 35-38
IsabelleCoupry,
LaurenceTaine,
CyrilGoizet,
CarineSoriano,
BrunoMortemousque,
BenoîtArveiler,
DidierLacombe,
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PDF (223KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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| 10. |
The whole truth and nothing but the truth, but what is the truth? |
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Journal of Medical Genetics,
Volume 38,
Issue 1,
2001,
Page 39-42
Hanneke M A van den Boer-vanden Berg,
Anneke AMaat-Kievit,
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PDF (119KB)
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ISSN:0022-2593
出版商:J Med Genet
年代:2001
数据来源: BMJ
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Volume 38 issue 1