| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
|
Cao, Michelangelo
|
|
2015
|
17 |
1 |
p. 65-70
|
artikel
|
| 2 |
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations
|
Brownstein, Catherine A.
|
|
2015
|
17 |
1 |
p. 11-16
|
artikel
|
| 3 |
COMT Val158Met polymorphism is associated with nonverbal cognition following mild traumatic brain injury
|
Winkler, Ethan A.
|
|
2015
|
17 |
1 |
p. 31-41
|
artikel
|
| 4 |
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism
|
Shang, Linshan
|
|
2015
|
17 |
1 |
p. 43-49
|
artikel
|
| 5 |
Disruptions in a cluster of computationally identified enhancers near FOXC1 and GMDS may influence brain development
|
Haliburton, Genevieve D. E.
|
|
2015
|
17 |
1 |
p. 1-9
|
artikel
|
| 6 |
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking
|
Rodríguez-García, María Elena
|
|
2015
|
17 |
1 |
p. 51-56
|
artikel
|
| 7 |
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization
|
Edvardson, Simon
|
|
2015
|
17 |
1 |
p. 25-30
|
artikel
|
| 8 |
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly
|
Cavallin, Mara
|
|
2015
|
17 |
1 |
p. 79-82
|
artikel
|
| 9 |
Refining the phenotype associated with CASC5 mutation
|
Saadi, Abdelkrim
|
|
2015
|
17 |
1 |
p. 71-78
|
artikel
|
| 10 |
Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood
|
Kirshenbaum, Greer S.
|
|
2015
|
17 |
1 |
p. 57-63
|
artikel
|
| 11 |
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome
|
Micheal, Shazia
|
|
2015
|
17 |
1 |
p. 17-23
|
artikel
|
Tijdschrift beschrijving