List of works - Erica L Macke - Paulina

List of works by Erica L Macke

A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C

scientific article published on 25 August 2020

Additive effect of TAp63 deficiency on the adrenocortical dysplasia (acd) phenotype.

scientific article published on 22 October 2011

Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report

scientific article published on 01 January 2020

Genetic basis of age-dependent synaptic abnormalities in the retina

scientific article published on 2 October 2014

Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia

scientific article published on 29 June 2020

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures

scientific article published on 16 January 2020

Loss of Chondroitin Sulfate Modification Causes Inflammation and Neurodegeneration in skt Mice

scientific article published on 21 November 2019

Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies

scientific journal article

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome

scientific article published on 15 May 2020

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