| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Cerebellar dysplasia related to PIK3CA mutation: a three-case series
|
Di Stasi, Martina
|
|
|
22 |
1 |
p. 27-32
|
artikel
|
| 2 |
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females
|
Scala, Marcello
|
|
|
22 |
1 |
p. 87-94
|
artikel
|
| 3 |
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR
|
Stabley, Deborah L.
|
|
|
22 |
1 |
p. 53-64
|
artikel
|
| 4 |
Distal myopathy due to TCAP variants in four unrelated Chinese patients
|
Lv, Xiaoqing
|
|
|
22 |
1 |
p. 1-10
|
artikel
|
| 5 |
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series
|
Magistrelli, Luca
|
|
|
22 |
1 |
p. 65-70
|
artikel
|
| 6 |
Familial writer’s cramp: a clinical clue for inherited coenzyme Q10 deficiency
|
Amprosi, Matthias
|
|
|
22 |
1 |
p. 81-86
|
artikel
|
| 7 |
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding
|
Maini, Ilenia
|
|
|
22 |
1 |
p. 19-25
|
artikel
|
| 8 |
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
|
Méreaux, Jean-Loup
|
|
|
22 |
1 |
p. 71-79
|
artikel
|
| 9 |
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy
|
Lornage, Xavière
|
|
|
22 |
1 |
p. 33-41
|
artikel
|
| 10 |
SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review
|
Remiche, Gauthier
|
|
|
22 |
1 |
p. 95-101
|
artikel
|
| 11 |
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis
|
Naruse, Hiroya
|
|
|
22 |
1 |
p. 11-17
|
artikel
|
| 12 |
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant
|
Bousquet, Idriss
|
|
|
22 |
1 |
p. 43-51
|
artikel
|
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