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Volume 53; Issue 7
Main
Journal of Medical Genetics
Volume 53; Issue 7
Journal of Medical Genetics
Volume 53; Issue 7
1
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association
Chen, Yixin
,
Liu, Zhenlei
,
Chen, Jia
,
Zuo, Yuzhi
,
Liu, Sen
,
Chen, Weisheng
,
Liu, Gang
,
Qiu, Guixing
,
Giampietro, Philip F
,
Wu, Nan
,
Wu, Zhihong
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 637 KB
Your tags:
english, 2016
2
AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis
Li, Wei
,
Li, YaWei
,
Zhang, Lusi
,
Guo, Hui
,
Tian, Di
,
Li, Ying
,
Peng, Yu
,
Zheng, Yu
,
Dai, Yuliang
,
Xia, Kun
,
Lan, Xinqiang
,
Wang, Bing
,
Hu, Zhengmao
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 743 KB
Your tags:
english, 2016
3
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
McInerney-Leo, Aideen M
,
Le Goff, Carine
,
Leo, Paul J
,
Kenna, Tony J
,
Keith, Patricia
,
Harris, Jessica E
,
Steer, Ruth
,
Bole-Feysot, Christine
,
Nitschke, Patrick
,
Kielty, Cay
,
Brown, Matthew A
,
Zankl,
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 1.51 MB
Your tags:
english, 2016
4
Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer
Kast, Karin
,
Rhiem, Kerstin
,
Wappenschmidt, Barbara
,
Hahnen, Eric
,
Hauke, Jan
,
Bluemcke, Britta
,
Zarghooni, Verena
,
Herold, Natalie
,
Ditsch, Nina
,
Kiechle, Marion
,
Braun, Michael
,
Fischer, Christine
,
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 291 KB
Your tags:
english, 2016
5
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry
Ortiz, Alberto
,
Abiose, Ademola
,
Bichet, Daniel G
,
Cabrera, Gustavo
,
Charrow, Joel
,
Germain, Dominique P
,
Hopkin, Robert J
,
Jovanovic, Ana
,
Linhart, Aleš
,
Maruti, Sonia S
,
Mauer, Michael
,
Oliveira, Jo
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 446 KB
Your tags:
english, 2016
6
Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations
Manchanda, Ranjit
,
Burnell, Matthew
,
Loggenberg, Kelly
,
Desai, Rakshit
,
Wardle, Jane
,
Sanderson, Saskia C
,
Gessler, Sue
,
Side, Lucy
,
Balogun, Nyala
,
Kumar, Ajith
,
Dorkins, Huw
,
Wallis, Yvonne
,
Chapman
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 1009 KB
Your tags:
english, 2016
7
Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels
van Leeuwen, Elisabeth M
,
Sabo, Aniko
,
Bis, Joshua C
,
Huffman, Jennifer E
,
Manichaikul, Ani
,
Smith, Albert V
,
Feitosa, Mary F
,
Demissie, Serkalem
,
Joshi, Peter K
,
Duan, Qing
,
Marten, Jonathan
,
van Kli
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 845 KB
Your tags:
english, 2016
8
Correction
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 269 KB
Your tags:
english, 2016
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