genetic disorders phenotype

Aliases

genetic disease

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Mentioned in (13)

Papers in which this entity is mentioned.

• A global multicohort study to map subcortical brain development and cognition in infancy and early childhood. (2024)
• The Human Phenotype Ontology in 2024: phenotypes around the world. (2024)
• Human 3D brain organoids: steering the demolecularization of brain and neurological diseases. (2023)
• H-MRS neurometabolite profiles and motor development in school-aged children who are HIV-exposed uninfected: a birth cohort study. (2023)
• mutations, genetic mosaicism and human disease. (2022)
• Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data. (2022)
• Clinical presentation, diagnosis, and management of fetal alcohol spectrum disorder. (2019)
• Combined Face-Brain Morphology and Associated Neurocognitive Correlates in Fetal Alcohol Spectrum Disorders. (2018)
• Mapping and phasing of structural variation in patient genomes using nanopore sequencing. (2017)
• New insights into the generation and role of de novo mutations in health and disease. (2016)
• Further development of a neurobehavioral profile of fetal alcohol spectrum disorders. (2013)
• Dosage transmission disequilibrium test (dTDT) for linkage and association detection. (2013)
• Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. (2012)

Merged raw entities (3)

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