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Volume 50; Issue 11
Main
Journal of Medical Genetics
Volume 50; Issue 11
Journal of Medical Genetics
Volume 50; Issue 11
1
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation
Banne, E.
,
Atawneh, O.
,
Henneke, M.
,
Brockmann, K.
,
Gartner, J.
,
Elpeleg, O.
,
Edvardson, S.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 727 KB
Your tags:
english, 2013
2
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis
Edvardson, S.
,
Ashikov, A.
,
Jalas, C.
,
Sturiale, L.
,
Shaag, A.
,
Fedick, A.
,
Treff, N. R.
,
Garozzo, D.
,
Gerardy-Schahn, R.
,
Elpeleg, O.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 1.76 MB
Your tags:
english, 2013
3
Support of the histaminergic hypothesis in Tourette Syndrome: association of the histamine decarboxylase gene in a large sample of families
Karagiannidis, I.
,
Dehning, S.
,
Sandor, P.
,
Tarnok, Z.
,
Rizzo, R.
,
Wolanczyk, T.
,
Madruga-Garrido, M.
,
Hebebrand, J.
,
Nothen, M. M.
,
Lehmkuhl, G.
,
Farkas, L.
,
Nagy, P.
,
Szymanska, U.
,
Anastasiou, Z.
,
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 360 KB
Your tags:
english, 2013
4
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss
Richards, A. J.
,
Fincham, G. S.
,
McNinch, A.
,
Hill, D.
,
Poulson, A. V.
,
Castle, B.
,
Lees, M. M.
,
Moore, A. T.
,
Scott, J. D.
,
Snead, M. P.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 5.72 MB
Your tags:
english, 2013
5
Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
Sa, M. J. N.
,
Fieremans, N.
,
de Brouwer, A. P. M.
,
Sousa, R.
,
Costa, F. T. e.
,
Brito, M. J.
,
Carvalho, F.
,
Rodrigues, M.
,
de Sousa, F. T.
,
Felgueiras, J.
,
Neves, F.
,
Carvalho, A.
,
Ramos, U.
,
Vizcaino,
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 1.54 MB
Your tags:
english, 2013
6
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly
Capo-Chichi, J.-M.
,
Tcherkezian, J.
,
Hamdan, F. F.
,
Decarie, J. C.
,
Dobrzeniecka, S.
,
Patry, L.
,
Nadon, M.-A.
,
Mucha, B. E.
,
Major, P.
,
Shevell, M.
,
Bencheikh, B. O. A.
,
Joober, R.
,
Samuels, M. E.
,
Ro
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 1.10 MB
Your tags:
english, 2013
7
The busy physician's guide to genetics, genomics and personalized medicine
Al Khalifah, R.
,
Polychronakos, C.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 44 KB
Your tags:
english, 2013
8
Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3
Al-Qahtani, A.
,
Khalak, H. G.
,
Alkuraya, F. S.
,
Al-hamoudy, W.
,
Alswat, K.
,
Al Balwi, M. A.
,
Al AbdulKareem, I.
,
Sanai, F. M.
,
Abdo, A. A.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 6.24 MB
Your tags:
english, 2013
9
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing
Nota, B.
,
Hamilton, E. M.
,
Sie, D.
,
Ozturk, S.
,
van Dooren, S. J. M.
,
Ojeda, M. R. F.
,
Jakobs, C.
,
Christensen, E.
,
Kirk, E. P.
,
Sykut-Cegielska, J.
,
Lund, A. M.
,
van der Knaap, M. S.
,
Salomons, G. S.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 400 KB
Your tags:
english, 2013
10
Advances in osteoarthritis genetics
Panoutsopoulou, K.
,
Zeggini, E.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 250 KB
Your tags:
english, 2013
11
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
Kenna, Kevin P
,
McLaughlin, Russell L
,
Byrne, Susan
,
Elamin, Marwa
,
Heverin, Mark
,
Kenny, Elaine M
,
Cormican, Paul
,
Morris, Derek W
,
Donaghy, Colette G
,
Bradley, Daniel G
,
Hardiman, Orla
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 648 KB
Your tags:
english, 2013
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