List of works - Aia E Jønch

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.

scientific article

A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance

scientific article published on 18 January 2015

Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders ⬇️

scientific article published in June 2014

De 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.

scientific article published on 12 April 2012

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

scientific article published on 2 December 2015

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.

scientific article published on 8 December 2017

Emerging topics in FXTAS.

scientific article

Erratum: Emerging topics in FXTAS.

scientific article published on 8 April 2015

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

scientific article published on 26 August 2019

Huntington's Disease: Effect of Memantine on FDG-PET Brain Metabolism? ⬇️

scientific article published on January 1, 2011

Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy

scientific article

Partial duplication of 13q31.3-q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus

scientific article published on 27 July 2012

Protein synthesis levels are increased in a subset of individuals with Fragile X syndrome.

scientific article published on 24 March 2018

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome

scientific article published on 01 November 2018

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

scientific article published on 27 March 2018

[From intellectual disability to new treatment modalities of fragile X syndrome] ⬇️

scientific article published on 01 February 2014

List of works by Aia E Jønch

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.

A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance

Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders ⬇️

De 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

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.

Emerging topics in FXTAS.

Erratum: Emerging topics in FXTAS.

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Huntington's Disease: Effect of Memantine on FDG-PET Brain Metabolism? ⬇️

Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy

Partial duplication of 13q31.3-q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus

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 syndrome

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

[From intellectual disability to new treatment modalities of fragile X syndrome] ⬇️