| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A novel mutation of CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy
|
Licchetta, L.
|
|
2015
|
58 |
10 |
p. 540-544
5 p.
|
article
|
| 2 |
A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes
|
Vlckova, Marketa
|
|
2015
|
58 |
10 |
p. 550-555
6 p.
|
article
|
| 3 |
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related “core-rod” congenital myopathy
|
Malfatti, Edoardo
|
|
2015
|
58 |
10 |
p. 556-561
6 p.
|
article
|
| 4 |
Ethical review of biobank research: Should RECs review each release of material from biobanks operating under an already-approved broad consent and data protection model?
|
Strech, Daniel
|
|
2015
|
58 |
10 |
p. 545-549
5 p.
|
article
|
| 5 |
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities
|
Van Dijck, Anke
|
|
2015
|
58 |
10 |
p. 503-508
6 p.
|
article
|
| 6 |
MSH2 role in BRCA1-driven tumorigenesis: A preliminary study in yeast and in human tumors from BRCA1-VUS carriers
|
Maresca, Luisa
|
|
2015
|
58 |
10 |
p. 531-539
9 p.
|
article
|
| 7 |
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy
|
Goldstein, Jessica H.R.
|
|
2015
|
58 |
10 |
p. 562-568
7 p.
|
article
|
| 8 |
13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia
|
Poreau, Brice
|
|
2015
|
58 |
10 |
p. 526-530
5 p.
|
article
|
| 9 |
SHP2 sails from physiology to pathology
|
Tajan, Mylène
|
|
2015
|
58 |
10 |
p. 509-525
17 p.
|
article
|
Journal description