| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disability
|
Krenn, Martin
|
|
|
65 |
3 |
p.
|
artikel
|
| 2 |
A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairment
|
Tabata, Kenshiro
|
|
|
65 |
3 |
p.
|
artikel
|
| 3 |
Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant
|
Nielsen, Trine Østergaard
|
|
|
65 |
3 |
p.
|
artikel
|
| 4 |
Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?
|
Chin, Hui-Lin
|
|
|
65 |
3 |
p.
|
artikel
|
| 5 |
CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants
|
Nunes, Natália
|
|
|
65 |
3 |
p.
|
artikel
|
| 6 |
Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients
|
Torun, Basak
|
|
|
65 |
3 |
p.
|
artikel
|
| 7 |
Corrigendum to “ATP7B variant spectrum in a French pediatric Wilson disease cohort” [Eur. J. Med. Genet. 64 (10) (October 2021) 104305]
|
Couchonnal, Eduardo
|
|
|
65 |
3 |
p.
|
artikel
|
| 8 |
Editorial Board
|
|
|
|
65 |
3 |
p.
|
artikel
|
| 9 |
Exome sequencing identifies RASSF1 and KLK3 germline variants in an Iranian multiple-case breast cancer family
|
Radmanesh, Hoda
|
|
|
65 |
3 |
p.
|
artikel
|
| 10 |
Genetic findings in patients with primary fibrotic atrial cardiomyopathy
|
Zhu, Yue
|
|
|
65 |
3 |
p.
|
artikel
|
| 11 |
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
|
Agrawal, Neha
|
|
|
65 |
3 |
p.
|
artikel
|
| 12 |
Hereditary spastic paraparesis: The real-world experience from a Neurogenetics outpatient clinic
|
Cunha, Inês A.
|
|
|
65 |
3 |
p.
|
artikel
|
| 13 |
Metabolic profiling of Costello syndrome: Insights from a single-center cohort
|
Leoni, Chiara
|
|
|
65 |
3 |
p.
|
artikel
|
| 14 |
3M syndrome: A Tunisian seven-cases series
|
Khachnaoui-Zaafrane, Khaoula
|
|
|
65 |
3 |
p.
|
artikel
|
| 15 |
Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1
|
Faghihi, Fatemeh
|
|
|
65 |
3 |
p.
|
artikel
|
| 16 |
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities
|
Mangano, Giuseppe Donato
|
|
|
65 |
3 |
p.
|
artikel
|
| 17 |
Syndromic obesity with neurodevelopmental delay: Opportunities for targeted interventions
|
Kehinde, Tawakalitu Abosede
|
|
|
65 |
3 |
p.
|
artikel
|
| 18 |
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
|
Arnaud, Lionel
|
|
|
65 |
3 |
p.
|
artikel
|
| 19 |
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient
|
Martinez-Esteve Melnikova, Anastasia
|
|
|
65 |
3 |
p.
|
artikel
|
| 20 |
The VASCERN European Reference Network: An overview
|
Jondeau, Guillaume
|
|
|
65 |
3 |
p.
|
artikel
|
| 21 |
Three patients of transthyretin amyloidosis in a Japanese family with amyloidogenic transthyretin Thr49Ser (p.Thr69Ser) variant
|
Ikura, Hidehiko
|
|
|
65 |
3 |
p.
|
artikel
|
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