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Publications by Daniela M Cochoy

Phenotypic and Functional Analysis of SHANK3 Stop Mutations Identified in Individuals With ASD and/or ID

Molecular Autism
PsychiatryMental HealthDevelopmental NeuroscienceDevelopmental BiologyMolecular Biology
2015English

Related publications

Transcriptional and Functional Complexity of Shank3 Provides a Molecular Framework to Understand the Phenotypic Heterogeneity of SHANK3 Causing Autism and Shank3 Mutant Mice

Molecular Autism
PsychiatryMental HealthDevelopmental NeuroscienceDevelopmental BiologyMolecular Biology
2014English

Comparison of Perinatal Risk Factors Associated With Autism Spectrum Disorder (ASD), Intellectual Disability (ID), and Co-Occurring ASD and ID

Journal of Autism and Developmental Disorders
DevelopmentalEducational Psychology
2015English

Molecular and Phenotypic Abnormalities in Individuals With Germline Heterozygous PTEN Mutations and Autism

Molecular Psychiatry
PsychiatryMolecular NeuroscienceMental HealthMolecular BiologyCellular
2014English

Functional Effects of Mutations Identified in Patients With Multiminicore Disease

IUBMB Life
BiochemistryGeneticsClinical BiochemistryCell BiologyMolecular Biology
2007English

Identification of Novel KIF11 Mutations in Patients With Familial Exudative Vitreoretinopathy and a Phenotypic Analysis

Scientific Reports
Multidisciplinary
2016English

Structural and Functional Characterization of Runx1 Point Mutations Identified in Leukemia and Cleidocranial Dysplasia Patients.

English

Visual Search in ADHD, ASD and ASD + ADHD: Overlapping or Dissociating Disorders?

European Child and Adolescent Psychiatry
DevelopmentalMental HealthPediatricsEducational PsychologyPhilosophyPerinatologyPsychiatryMedicineChild Health
2020English

Phenotypic Spectrum of the Tubulin-Related Disorders and Functional Implications of Disease-Causing Mutations

Current Opinion in Genetics and Development
GeneticsDevelopmental Biology
2011English

Meconium Androgens Are Correlated With ASD-related Phenotypic Traits in Early Childhood

2020English

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