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Publications by Ortal Barel

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

American Journal of Human Genetics
Genetics
2019English

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A (PPP2CA) Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

American Journal of Human Genetics
Genetics
2019English

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

Frontiers in Immunology
AllergyImmunology
2019English

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Frontiers in Genetics
GeneticsMolecular Medicine
2019English

Whole Exome Sequencing in Childhood-Onset Lupus Frequently Detects Single Gene Etiologies

Pediatric Rheumatology
ImmunologyPediatricsRheumatologyAllergyPerinatologyChild Health
2019English

LMOD3 -Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings

Journal of Ultrasound in Medicine
Nuclear MedicineRadiologyUltrasound TechnologyRadiologicalImagingMedicine
2018English

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