| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humor
|
Kuchtey, John
|
|
2013
|
56 |
6 |
p. 292-296
5 p.
|
article
|
| 2 |
Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletion
|
Verhoeven, Willem M.A.
|
|
2013
|
56 |
6 |
p. 331-335
5 p.
|
article
|
| 3 |
Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features
|
Trachoo, Objoon
|
|
2013
|
56 |
6 |
p. 319-324
6 p.
|
article
|
| 4 |
Clinical characterization of DISP1 haploinsufficiency: A case report
|
Jun, Kyung Ran
|
|
2013
|
56 |
6 |
p. 309-313
5 p.
|
article
|
| 5 |
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome
|
Darmency-Stamboul, Véronique
|
|
2013
|
56 |
6 |
p. 301-308
8 p.
|
article
|
| 6 |
High incidence of Meniere-like symptoms in relatives of Meniere patients in the areas of Oulu University Hospital and Kainuu Central Hospital in Finland
|
Hietikko, Elina
|
|
2013
|
56 |
6 |
p. 279-285
7 p.
|
article
|
| 7 |
263.4 kb deletion within the TCF4 gene consistent with Pitt–Hopkins syndrome, inherited from a mosaic parent with normal phenotype
|
Kousoulidou, Ludmila
|
|
2013
|
56 |
6 |
p. 314-318
5 p.
|
article
|
| 8 |
Mowat–Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: Advocacy for standard autopsy
|
Spaggiari, Emmanuel
|
|
2013
|
56 |
6 |
p. 297-300
4 p.
|
article
|
| 9 |
Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2
|
Scherrer, D.Z.
|
|
2013
|
56 |
6 |
p. 336-339
4 p.
|
article
|
| 10 |
Pontocerebellar hypoplasia type 2 and TSEN2: Review of the literature and two novel mutations
|
Bierhals, Tatjana
|
|
2013
|
56 |
6 |
p. 325-330
6 p.
|
article
|
| 11 |
Poor socio-economic status in 47,XXX – An unexpected effect of an extra X chromosome
|
Stochholm, Kirstine
|
|
2013
|
56 |
6 |
p. 286-291
6 p.
|
article
|
Journal description