nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('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. |
artikel |
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. |
artikel |
3 |
Calcifying nested stromal-epithelial tumor (CNSET) of the liver in Beckwith-Wiedemann syndrome
|
Khoshnam, Nasim |
|
2017 |
60 |
2 |
p. 136-139 4 p. |
artikel |
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. |
artikel |
5 |
Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices
|
Domínguez-Carral, J. |
|
2017 |
60 |
2 |
p. 124-129 6 p. |
artikel |
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. |
artikel |
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. |
artikel |
8 |
7p22.1 microduplication syndrome: Refinement of the critical region
|
Ronzoni, Luisa |
|
2017 |
60 |
2 |
p. 114-117 4 p. |
artikel |
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. |
artikel |
10 |
Stargardt disease-associated mutation spectrum of a Russian Federation cohort
|
Zolnikova, Inna V. |
|
2017 |
60 |
2 |
p. 140-147 8 p. |
artikel |