about
Emerging topics in FXTAS.Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathyDe novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance.Erratum: Emerging topics in FXTAS.Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.[Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders].Protein synthesis levels are increased in a subset of individuals with Fragile X syndrome.Protein synthesis levels are increased in a subset of individuals with fragile X syndromeQuantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First StudyPartial duplication of 13q31.3-q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus[From intellectual disability to new treatment modalities of fragile X syndrome]Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
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P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0001-9137-5251
@en
name
Aia E Jønch
@ast
Aia E Jønch
@en
Aia E Jønch
@nl
type
label
Aia E Jønch
@ast
Aia E Jønch
@en
Aia E Jønch
@nl
prefLabel
Aia E Jønch
@ast
Aia E Jønch
@en
Aia E Jønch
@nl
P108
P106
P108
P31
P496
0000-0001-9137-5251