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| 1. |
Highly significant linkage to chromosome 3q13.31 for rhinitis and related allergic diseases |
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Journal of Medical Genetics,
Volume 43,
Issue 3,
2006,
Page 10-10
CBrasch-Andersen,
AHaagerup,
A DBørglum,
JVestbo,
T AKruse,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 2. |
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations inROBO3 |
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Journal of Medical Genetics,
Volume 43,
Issue 3,
2006,
Page 11-11
W-MChan,
E ITraboulsi,
BArthur,
NFriedman,
CAndrews,
E CEngle,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 3. |
Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3–14 |
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Journal of Medical Genetics,
Volume 43,
Issue 3,
2006,
Page 12-12
J VWarner,
D RNyholt,
FBusfield,
MEpstein,
JBurgess,
SStranks,
PHill,
DPerry-Keene,
DLearoyd,
BRobinson,
B TTeh,
J BPrins,
J WCardinal,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 4. |
Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification ofBMPR1Aloss of function |
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Journal of Medical Genetics,
Volume 43,
Issue 3,
2006,
Page 13-13
XCao,
K WEu,
M PKumarasinghe,
H HLi,
CLoi,
P YCheah,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 5. |
X linked mental retardation: a clinical guide |
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Journal of Medical Genetics,
Volume 43,
Issue 3,
2006,
Page 193-200
F LRaymond,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 6. |
Battle of theBRCA1/BRCA2(offspring) sex ratios: truth or consequences |
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Journal of Medical Genetics,
Volume 43,
Issue 3,
2006,
Page 201-202
D MAgnese,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 7. |
TheCC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation |
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Journal of Medical Genetics,
Volume 43,
Issue 3,
2006,
Page 203-210
LBasel-Vanagaite,
RAttia,
MYahav,
R JFerland,
LAnteki,
C AWalsh,
TOlender,
RStraussberg,
NMagal,
ETaub,
VDrasinover,
AAlkelai,
DBercovich,
GRechavi,
A JSimon,
MShohat,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 8. |
Phenotypic spectrum of CHARGE syndrome in fetuses withCHD7truncating mutations correlates with expression during human development |
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Journal of Medical Genetics,
Volume 43,
Issue 3,
2006,
Page 211-317
DSanlaville,
H CEtchevers,
MGonzales,
JMartinovic,
MClément-Ziza,
A-LDelezoide,
M-CAubry,
APelet,
SChemouny,
CCruaud,
SAudollent,
CEsculpavit,
GGoudefroye,
COzilou,
CFredouille,
NJoye,
NMorichon-Delvallez,
YDumez,
JWeissenbach,
AMunnich,
JAmiel,
FEncha-Razavi,
SLyonnet,
MVekemans,
TAttié-Bitach,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 9. |
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability |
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Journal of Medical Genetics,
Volume 43,
Issue 3,
2006,
Page 218-224
ESeemanová,
KSperling,
HNeitzel,
RVaron,
JHadac,
OButova,
ESchröck,
PSeeman,
MDigweed,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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| 10. |
A mutation in the receptor binding site ofGDF5causes Mohr-Wriedt brachydactyly type A2 |
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Journal of Medical Genetics,
Volume 43,
Issue 3,
2006,
Page 225-231
K WKjaer,
HEiberg,
LHansen,
C Bvan der Hagen,
KRosendahl,
NTommerup,
SMundlos,
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ISSN:0022-2593
出版商:jmedgenet
年代:2006
数据来源: BMJ
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