| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations
|
Naruse, Hiroya
|
|
2019
|
20 |
2 |
p. 65-71
|
artikel
|
| 2 |
Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
|
Sánchez-Iglesias, Sofía
|
|
2019
|
20 |
2 |
p. 73-82
|
artikel
|
| 3 |
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era
|
Zampatti, Stefania
|
|
2019
|
20 |
2 |
p. 57-64
|
artikel
|
| 4 |
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
|
Cauley, Edmund S.
|
|
2019
|
20 |
2 |
p. 91-98
|
artikel
|
| 5 |
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia
|
Accogli, Andrea
|
|
2019
|
20 |
2 |
p. 103-108
|
artikel
|
| 6 |
Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family
|
Ramos, Eliana Marisa
|
|
2019
|
20 |
2 |
p. 99-102
|
artikel
|
| 7 |
Rs10230207 genotype confers changes in HDAC9 and TWIST1, but not FERD3L in lymphoblasts from patients with intracranial aneurysm
|
Lansdell, Theresa A.
|
|
2019
|
20 |
2 |
p. 83-89
|
artikel
|
| 8 |
Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures
|
Alsahli, Saud
|
|
2019
|
20 |
2 |
p. 109-115
|
artikel
|
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