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Volume 50; Issue 12
Main
Journal of Medical Genetics
Volume 50; Issue 12
Journal of Medical Genetics
Volume 50; Issue 12
1
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
Brioude, F.
,
Oliver-Petit, I.
,
Blaise, A.
,
Praz, F.
,
Rossignol, S.
,
Jule, M. L.
,
Thibaud, N.
,
Faussat, A.-M.
,
Tauber, M.
,
Bouc, Y. L.
,
Netchine, I.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 2.85 MB
Your tags:
english, 2013
2
Association analyses identifying two common susceptibility loci shared by psoriasis and systemic lupus erythematosus in the Chinese Han population
Li, Y.
,
Cheng, H.
,
Zuo, X.-b.
,
Sheng, Y.-j.
,
Zhou, F.-s.
,
Tang, X.-f.
,
Tang, H.-y.
,
Gao, J.-p.
,
Zhang, Z.
,
He, S.-m.
,
Lv, Y.-m.
,
Zhu, K.-j.
,
Hu, D.-y.
,
Liang, B.
,
Zhu, J.
,
Zheng, X.-d.
,
Sun, L.-d.
,
Ya
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 134 KB
Your tags:
english, 2013
3
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
Schuurs-Hoeijmakers, J. H. M.
,
Vulto-van Silfhout, A. T.
,
Vissers, L. E. L. M.
,
van de Vondervoort, I. I. G. M.
,
van Bon, B. W. M.
,
de Ligt, J.
,
Gilissen, C.
,
Hehir-Kwa, J. Y.
,
Neveling, K.
,
del Rosar
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 5.17 MB
Your tags:
english, 2013
4
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype
Zweier, C.
,
Kraus, C.
,
Brueton, L.
,
Cole, T.
,
Degenhardt, F.
,
Engels, H.
,
Gillessen-Kaesbach, G.
,
Graul-Neumann, L.
,
Horn, D.
,
Hoyer, J.
,
Just, W.
,
Rauch, A.
,
Reis, A.
,
Wollnik, B.
,
Zeschnigk, M.
,
Lud
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 1.33 MB
Your tags:
english, 2013
5
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort
Elliott, A. M.
,
Simard, L. R.
,
Coghlan, G.
,
Chudley, A. E.
,
Chodirker, B. N.
,
Greenberg, C. R.
,
Burch, T.
,
Ly, V.
,
Hatch, G. M.
,
Zelinski, T.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 1.01 MB
Your tags:
english, 2013
6
Criteria and prediction models for mismatch repair gene mutations: a review
Win, A. K.
,
MacInnis, R. J.
,
Dowty, J. G.
,
Jenkins, M. A.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 171 KB
Your tags:
english, 2013
7
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network
Grau, T.
,
Burbulla, L. F.
,
Engl, G.
,
Delettre, C.
,
Delprat, B.
,
Oexle, K.
,
Leo-Kottler, B.
,
Roscioli, T.
,
Kruger, R.
,
Rapaport, D.
,
Wissinger, B.
,
Schimpf-Linzenbold, S.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 12.02 MB
Your tags:
english, 2013
8
Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men
Chen, Z.
,
Tao, S.
,
Gao, Y.
,
Zhang, J.
,
Hu, Y.
,
Mo, L.
,
Kim, S.-T.
,
Yang, X.
,
Tan, A.
,
Zhang, H.
,
Qin, X.
,
Li, L.
,
Wu, Y.
,
Zhang, S.
,
Zheng, S. L.
,
Xu, J.
,
Mo, Z.
,
Sun, J.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 1.17 MB
Your tags:
english, 2013
9
Genetic variants in CHI3L1 influencing YKL-40 levels: resequencing 900 individuals and genotyping 9000 individuals from the general population
Kjaergaard, A. D.
,
Johansen, J. S.
,
Nordestgaard, B. G.
,
Bojesen, S. E.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 1.94 MB
Your tags:
english, 2013
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