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3 articles related to "Phenotypic Expressivity"

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Articles

Original Research

Published on 06 Sep 2023

Genetic background modulates phenotypic expressivity in OPA1 mutated mice, relevance to DOA pathogenesis

in Methods and Model Organisms

Djamaa Atamena
Venu Gurram
Petnoï Petsophonsakul
Farnoosh Khosrobakhsh
Macarena S. Arrázola
Marlène Botella
Bernd Wissinger
Marion Szelechowski
Pascale Belenguer

Frontiers in Molecular Neuroscience

doi 10.3389/fnmol.2023.1241222

3,675 views
1 citation

Original Research

Published on 22 Feb 2019

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

in Genetics of Common and Rare Diseases

Fátima Lopes
Fátima Torres
Gabriela Soares
Clara D. van Karnebeek
Cecília Martins
Diana Antunes
João Silva
Lauren Muttucomaroe
Luís Filipe Botelho
Susana Sousa

Frontiers in Genetics

doi 10.3389/fgene.2019.00058

7,980 views
11 citations

Original Research

Published on 17 Feb 2023

DNA methylation differences in monozygotic twins with Van der Woude syndrome

in Pediatric Dentistry

A. L. Petrin
E. Zeng
M. A. Thomas
D. Moretti-Ferreira
M. L. Marazita
X. J. Xie
J. C. Murray
L. M. Moreno-Uribe

Frontiers in Dental Medicine

doi 10.3389/fdmed.2023.1120948

4,580 views
6 citations