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Publications by Pilar Magoulas
Erratum To: Haploinsufficiency of the E3 Ubiquitin-Protein Ligase Gene TRIP12 Causes Intellectual Disability With or Without Autism Spectrum Disorders, Speech Delay, and Dysmorphic Features
Human Genetics
Genetics
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De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features
Cold Spring Harbor molecular case studies
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Molecular Medicine
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A Review of the Genomic Analysis of Children Presenting With Developmental Delay/Intellectual Disability and Associated Dysmorphic Features
Cureus
Reported Wandering Behavior Among Children With Autism Spectrum Disorder and/or Intellectual Disability
Journal of Pediatrics
Child Health
Pediatrics
Perinatology
The Ubiquitin Ligase UBE3B, Disrupted in Intellectual Disability and Absent Speech, Regulates Metabolic Pathways by Targeting BCKDK
Proceedings of the National Academy of Sciences of the United States of America
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Sleep, Anxiety and Challenging Behaviour in Children With Intellectual Disability and/or Autism Spectrum Disorder
Research in Developmental Disabilities
Clinical Psychology
Educational Psychology
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Designing Computer-Based Rewards With and for Children With Autism Spectrum Disorder and/or Intellectual Disability
Computers in Human Behavior
Arts
Psychology
Human-Computer Interaction
Humanities
Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease
American Journal of Human Genetics
Genetics
Early Mortality and Primary Causes of Death in Mothers of Children With Intellectual Disability or Autism Spectrum Disorder: A Retrospective Cohort Study
PLoS ONE
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FBXW7 E3 Ubiquitin Ligase: Degrading, Not Degrading, or Being Degraded
Protein & Cell
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Biotechnology
Drug Discovery
Cell Biology
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