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

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

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

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

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

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

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

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

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

english, 2013

10

Advances in osteoarthritis genetics

Panoutsopoulou, K., Zeggini, E.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 250 KB

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

english, 2013