Volume 52; Issue 3

Journal of Medical Genetics

Volume 52; Issue 3

1

Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria

Danecka, M. K., Woidy, M., Zschocke, J., Feillet, F., Muntau, A. C., Gersting, S. W.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 4.68 MB

english, 2015

2

Evidence of digenic inheritance in Alport syndrome

Mencarelli, M. A., Heidet, L., Storey, H., van Geel, M., Knebelmann, B., Fallerini, C., Miglietti, N., Antonucci, M. F., Cetta, F., Sayer, J. A., van den Wijngaard, A., Yau, S., Mari, F., Bruttini, M.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.78 MB

english, 2015

3

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)

Wilbe, M., Ekvall, S., Eurenius, K., Ericson, K., Casar-Borota, O., Klar, J., Dahl, N., Ameur, A., Anneren, G., Bondeson, M.-L.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 445 KB

english, 2015

4

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

Ostergaard, E., Weraarpachai, W., Ravn, K., Born, A. P., Jonson, L., Duno, M., Wibrand, F., Shoubridge, E. A., Vissing, J.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 997 KB

english, 2015

5

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

Chae, J. H., Vasta, V., Cho, A., Lim, B. C., Zhang, Q., Eun, S. H., Hahn, S. H.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.14 MB

english, 2015

6

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder

Al-Hassnan, Z. N., Al-Dosary, M., Alfadhel, M., Faqeih, E. A., Alsagob, M., Kenana, R., Almass, R., Al-Harazi, O. S., Al-Hindi, H., Malibari, O. I., Almutari, F. B., Tulbah, S., Alhadeq, F., Al-Sheddi

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 5.47 MB

english, 2015

7

Transmission of germline TP53 mutations from male carriers to female partners

Patrier-Sallebert, S., Bougeard, G., Baert-Desurmont, S., Lamy, A., Flaman, J.-M., Mansuy, L., Bronner, M., Lasset, C., Brugieres, L., Golfier, F., Frebourg, T.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 807 KB

english, 2015

8

Correction

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 368 KB

english, 2015

9

Correction

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 374 KB

english, 2015

10

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Waters, A. M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., Chapgier, A., Vernay, B., Bader, D.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 17.69 MB

english, 2015

11

DCAF4, a novel gene associated with leucocyte telomere length

Mangino, M., Christiansen, L., Stone, R., Hunt, S. C., Horvath, K., Eisenberg, D. T. A., Kimura, M., Petersen, I., Kark, J. D., Herbig, U., Reiner, A. P., Benetos, A., Codd, V., Nyholt, D. R., Sinnrei

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.10 MB

english, 2015

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