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| 1. |
Clinical and molecular features associated with biallelic mutations inFANCD1/BRCA2 |
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Journal of Medical Genetics,
Volume 44,
Issue 1,
2007,
Page 1-9
Blanche PAlter,
Philip SRosenberg,
Lawrence CBrody,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 2. |
Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening |
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Journal of Medical Genetics,
Volume 44,
Issue 1,
2007,
Page 10-15
ASmith,
AMoran,
M CBoyd,
MBulman,
AShenton,
LSmith,
RIddenden,
E RWoodward,
FLalloo,
E RMaher,
D G REvans,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 3. |
IRAK4andNEMOmutations in otherwise healthy children with recurrent invasive pneumococcal disease |
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Journal of Medical Genetics,
Volume 44,
Issue 1,
2007,
Page 16-23
Cheng-LungKu,
CapucinePicard,
MelindaErdös,
AxelJeurissen,
JacintaBustamante,
AnnePuel,
Horstvon Bernuth,
OrchidéeFilipe-Santos,
Huey-HsuanChang,
TatianaLawrence,
MarcRaes,
LászlóMaródi,
XavierBossuyt,
Jean-LaurentCasanova,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 4. |
Genomewide scans of red cell indices suggest linkage on chromosome 6q23 |
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Journal of Medical Genetics,
Volume 44,
Issue 1,
2007,
Page 24-30
AIliadou,
D MEvans,
GZhu,
D LDuffy,
I HFrazer,
G WMontgomery,
N GMartin,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 5. |
Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region |
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Journal of Medical Genetics,
Volume 44,
Issue 1,
2007,
Page 31-37
CDiatloff-Zito,
ANicole,
GMarcelin,
HLabit,
EMarquis,
CBellanné-Chantelot,
J JRobert,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 6. |
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map ofCAPN3gene mutations |
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Journal of Medical Genetics,
Volume 44,
Issue 1,
2007,
Page 38-43
MFanin,
A CNascimbeni,
CAngelini,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 7. |
Replication of twelve association studies for Huntington’s disease residual age of onset in large Venezuelan kindreds |
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Journal of Medical Genetics,
Volume 44,
Issue 1,
2007,
Page 44-50
J MAndresen,
JGayán,
S SCherny,
DBrocklebank,
GAlkorta-Aranburu,
E AAddis,
L RCardon,
D EHousman,
N SWexler,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 8. |
Ultra-high resolution array painting facilitates breakpoint sequencing |
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Journal of Medical Genetics,
Volume 44,
Issue 1,
2007,
Page 51-58
S MGribble,
DKalaitzopoulos,
D CBurford,
EPrigmore,
R RSelzer,
B LNg,
N S WMatthews,
K MPorter,
RCurley,
S JLindsay,
JBaptista,
T ARichmond,
N PCarter,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 9. |
Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes |
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Journal of Medical Genetics,
Volume 44,
Issue 1,
2007,
Page 59-59
Jennifer JJohnston,
Robert LWalker,
SeanDavis,
FlaviaFacio,
Joyce TTurner,
David PBick,
Donna LDaentl,
Jay WEllison,
Paul SMeltzer,
Leslie GBiesecker,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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| 10. |
13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients |
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Journal of Medical Genetics,
Volume 44,
Issue 1,
2007,
Page 60-60
LuciaBallarati,
ElenaRossi,
Maria TeresaBonati,
StefaniaGimelli,
PaolaMaraschio,
PalmaFinelli,
SabrinaGiglio,
ElisabettaLapi,
Maria FrancescaBedeschi,
SilvanaGuerneri,
GiuliaArrigo,
Maria GraziaPatricelli,
TeresaMattina,
OrianaGuzzardi,
VannaPecile,
AdalgisaPolice,
GioacchinoScarano,
LidiaLarizza,
OrsettaZuffardi,
DanielaGiardino,
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ISSN:0022-2593
出版商:jmedgenet
年代:2007
数据来源: BMJ
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Volume 44 issue 1