| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity
|
Ghorashi, Tahereh
|
|
|
24 |
4 |
p. 311-316
|
artikel
|
| 2 |
Adult-onset Alexander disease among patients of Jewish Syrian descent
|
Anis, Saar
|
|
|
24 |
4 |
p. 303-310
|
artikel
|
| 3 |
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability
|
Li, Nana
|
|
|
24 |
4 |
p. 251-262
|
artikel
|
| 4 |
Clinical and functional study of two de novo variations of CDKL5 gene
|
You, Yang
|
|
|
24 |
4 |
p. 263-271
|
artikel
|
| 5 |
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
|
Ashrafi, Mahmoudreza
|
|
|
24 |
4 |
p. 317-318
|
artikel
|
| 6 |
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
|
Tomforde, Maike
|
|
|
24 |
4 |
p. 273-278
|
artikel
|
| 7 |
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
|
Ashrafi, Mahmoudreza
|
|
|
24 |
4 |
p. 279-289
|
artikel
|
| 8 |
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders
|
Si, Lianghao
|
|
|
24 |
4 |
p. 231-241
|
artikel
|
| 9 |
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families
|
Skoczylas, S.
|
|
|
24 |
4 |
p. 221-229
|
artikel
|
| 10 |
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
|
Palu, Edouard
|
|
|
24 |
4 |
p. 291-301
|
artikel
|
| 11 |
Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review
|
Zhu, Zeyu
|
|
|
24 |
4 |
p. 243-250
|
artikel
|
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