| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature
|
Shukla, Anju
|
|
2017
|
60 |
2 |
p. 118-123
6 p.
|
article
|
| 2 |
Boucher Neuhäuser Syndrome – A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6
|
Langdahl, Jakob H.
|
|
2017
|
60 |
2 |
p. 105-109
5 p.
|
article
|
| 3 |
Calcifying nested stromal-epithelial tumor (CNSET) of the liver in Beckwith-Wiedemann syndrome
|
Khoshnam, Nasim
|
|
2017
|
60 |
2 |
p. 136-139
4 p.
|
article
|
| 4 |
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals
|
Kharbanda, Mira
|
|
2017
|
60 |
2 |
p. 130-135
6 p.
|
article
|
| 5 |
Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices
|
Domínguez-Carral, J.
|
|
2017
|
60 |
2 |
p. 124-129
6 p.
|
article
|
| 6 |
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
|
Calì, Francesco
|
|
2017
|
60 |
2 |
p. 93-99
7 p.
|
article
|
| 7 |
Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm
|
Jelsig, Anne Marie
|
|
2017
|
60 |
2 |
p. 110-113
4 p.
|
article
|
| 8 |
7p22.1 microduplication syndrome: Refinement of the critical region
|
Ronzoni, Luisa
|
|
2017
|
60 |
2 |
p. 114-117
4 p.
|
article
|
| 9 |
“Serpentine-like syndrome”–A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies
|
Beleza-Meireles, Ana
|
|
2017
|
60 |
2 |
p. 100-104
5 p.
|
article
|
| 10 |
Stargardt disease-associated mutation spectrum of a Russian Federation cohort
|
Zolnikova, Inna V.
|
|
2017
|
60 |
2 |
p. 140-147
8 p.
|
article
|
Journal description