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| 1. |
A third locus for dominant optic atrophy on chromosome 22q |
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Journal of Medical Genetics,
Volume 42,
Issue 1,
2005,
Page 1-1
FBarbet,
SHakiki,
COrssaud,
SGerber,
IPerrault,
SHanein,
DDucroq,
J-LDufier,
AMunnich,
JKaplan,
J-MRozet,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 2. |
Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation |
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Journal of Medical Genetics,
Volume 42,
Issue 1,
2005,
Page 2-2
N JLeonard,
A LKrol,
SBleoo,
M JSomerville,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 3. |
A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma |
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Journal of Medical Genetics,
Volume 42,
Issue 1,
2005,
Page 3-3
THienonen,
HSammalkorpi,
PIsohanni,
RVersteeg,
RKarikoski,
L AAaltonen,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 4. |
First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with aSIX3gene mutation and phenotype/genotype correlation in our series ofSIX3mutations |
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Journal of Medical Genetics,
Volume 42,
Issue 1,
2005,
Page 4-4
LPasquier,
CDubourg,
MGonzales,
LLazaro,
VDavid,
SOdent,
FEncha-Razavi,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 5. |
Prevalence ofBRCA2mutations in a hospital based series of unselected breast cancer cases |
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Journal of Medical Genetics,
Volume 42,
Issue 1,
2005,
Page 5-5
S-WKim,
C SLee,
J VFey,
P IBorgen,
JBoyd,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 6. |
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes |
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Journal of Medical Genetics,
Volume 42,
Issue 1,
2005,
Page 8-16
S MGribble,
EPrigmore,
D CBurford,
K MPorter,
Bee LingNg,
E JDouglas,
HFiegler,
PCarr,
DKalaitzopoulos,
SClegg,
RSandstrom,
I KTemple,
S AYouings,
N SThomas,
N RDennis,
P AJacobs,
J ACrolla,
N PCarter,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 7. |
Fine mapping of a region on chromosome 21q21.11–q22.3 showing linkage to type 1 diabetes |
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Journal of Medical Genetics,
Volume 42,
Issue 1,
2005,
Page 17-25
RBergholdt,
JNerup,
FPociot,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 8. |
Angiotensin converting enzyme gene polymorphism and cardiovascular morbidity and mortality: the Rotterdam Study |
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Journal of Medical Genetics,
Volume 42,
Issue 1,
2005,
Page 26-30
F ASayed-Tabatabaei,
A F CSchut,
AArias Vásquez,
A MBertoli-Avella,
AHofman,
J C MWitteman,
C Mvan Duijn,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 9. |
APDGFRApromoter polymorphism, which disrupts the binding of ZNF148, is associated with primitive neuroectodermal tumours and ependymomas |
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Journal of Medical Genetics,
Volume 42,
Issue 1,
2005,
Page 31-37
CDe Bustos,
ASmits,
BStrömberg,
V PCollins,
MNistér,
GAfink,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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| 10. |
Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection |
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Journal of Medical Genetics,
Volume 42,
Issue 1,
2005,
Page 38-44
SSteinberg,
SKatsanis,
AMoser,
GCutting,
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ISSN:0022-2593
出版商:jmedgenet
年代:2005
数据来源: BMJ
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Volume 42 issue 1