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Volume 51; Issue 8
Main
Journal of Medical Genetics
Volume 51; Issue 8
Journal of Medical Genetics
Volume 51; Issue 8
1
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations
Futema, M.
,
Plagnol, V.
,
Li, K.
,
Whittall, R. A.
,
Neil, H. A. W.
,
Seed, M.
,
Bertolini, S.
,
Calandra, S.
,
Descamps, O. S.
,
Graham, C. A.
,
Hegele, R. A.
,
Karpe, F.
,
Durst, R.
,
Leitersdorf, E.
,
Lench, N.
Journal:
Journal of Medical Genetics
Year:
2014
Language:
english
File:
PDF, 528 KB
Your tags:
english, 2014
2
Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation
Wells, D.
,
Kaur, K.
,
Grifo, J.
,
Glassner, M.
,
Taylor, J. C.
,
Fragouli, E.
,
Munne, S.
Journal:
Journal of Medical Genetics
Year:
2014
Language:
english
File:
PDF, 1.16 MB
Your tags:
english, 2014
3
Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria
Frishberg, Y.
,
Zeharia, A.
,
Lyakhovetsky, R.
,
Bargal, R.
,
Belostotsky, R.
Journal:
Journal of Medical Genetics
Year:
2014
Language:
english
File:
PDF, 981 KB
Your tags:
english, 2014
4
Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission
Demars, J.
,
Shmela, M. E.
,
Khan, A. W.
,
Lee, K. S.
,
Azzi, S.
,
Dehais, P.
,
Netchine, I.
,
Rossignol, S.
,
Le Bouc, Y.
,
El-Osta, A.
,
Gicquel, C.
Journal:
Journal of Medical Genetics
Year:
2014
Language:
english
File:
PDF, 3.66 MB
Your tags:
english, 2014
5
Mutations in SETD2 cause a novel overgrowth condition
Luscan, A.
,
Laurendeau, I.
,
Malan, V.
,
Francannet, C.
,
Odent, S.
,
Giuliano, F.
,
Lacombe, D.
,
Touraine, R.
,
Vidaud, M.
,
Pasmant, E.
,
Cormier-Daire, V.
Journal:
Journal of Medical Genetics
Year:
2014
Language:
english
File:
PDF, 446 KB
Your tags:
english, 2014
6
SLC39A5 mutations interfering with the BMP/TGF- pathway in non-syndromic high myopia
Guo, H.
,
Jin, X.
,
Zhu, T.
,
Wang, T.
,
Tong, P.
,
Tian, L.
,
Peng, Y.
,
Sun, L.
,
Wan, A.
,
Chen, J.
,
Liu, Y.
,
Li, Y.
,
Tian, Q.
,
Xia, L.
,
Zhang, L.
,
Pan, Y.
,
Lu, L.
,
Liu, Q.
,
Shen, L.
,
Li, Y.
,
Xiong, W.
,
Li,
Journal:
Journal of Medical Genetics
Year:
2014
Language:
english
File:
PDF, 9.94 MB
Your tags:
english, 2014
7
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases
Ioannides, Y.
,
Lokulo-Sodipe, K.
,
Mackay, D. J. G.
,
Davies, J. H.
,
Temple, I. K.
Journal:
Journal of Medical Genetics
Year:
2014
Language:
english
File:
PDF, 453 KB
Your tags:
english, 2014
8
A genome-wide association study of serum levels of prostate-specific antigen in the Japanese population
Terao, C.
,
Terada, N.
,
Matsuo, K.
,
Kawaguchi, T.
,
Yoshimura, K.
,
Hayashi, N.
,
Shimizu, M.
,
Soga, N.
,
Takahashi, M.
,
Kotoura, Y.
,
Yamada, R.
,
Ogawa, O.
,
Matsuda, F.
Journal:
Journal of Medical Genetics
Year:
2014
Language:
english
File:
PDF, 1.37 MB
Your tags:
english, 2014
9
High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families
Helgadottir, H.
,
Hoiom, V.
,
Jonsson, G.
,
Tuominen, R.
,
Ingvar, C.
,
Borg, A.
,
Olsson, H.
,
Hansson, J.
Journal:
Journal of Medical Genetics
Year:
2014
Language:
english
File:
PDF, 420 KB
Your tags:
english, 2014
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