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Journal of Child Neurology|October 8, 2024
Determination of Health Concepts in β-Propeller Protein-Associated NeurodegenerationEmma Kotes, Francesco Gavazzi, Sarah Woidill, et al.
Pediatric Neurology|December 11, 2020
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical FeaturesCara Piccoli, Nowa Bronner, Francesco Gavazzi, et al.
Molecular Genetics and Metabolism|July 25, 2022
Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN)Francesco Gavazzi, Samuel R Pierce, Joseph Vithayathil, et al.
Molecular Genetics and Metabolism|October 16, 2025
Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN)Francesco Gavazzi, Samuel R Pierce, Vanessa Smith, et al.
American Journal of Medical Genetics. Part A|July 20, 2024
Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypesTomoki T Nomakuchi, Eden Y Teferedegn, Dong Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 7, 2015
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failureSurabhi Mulchandani, Elizabeth J Bhoj, Minjie Luo, et al.
Pediatric Neurology|May 11, 2020
Phenotypic and Imaging Spectrum Associated With WDR45Laura A Adang, Amy Pizzino, Alka Malhotra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic dataKristin McDonald Gibson, Addie Nesbitt, Kajia Cao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 2, 2018
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic dataKristin McDonald Gibson, Addie Nesbitt, Kajia Cao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2018
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic dataKristin McDonald Gibson, Addie Nesbitt, Kajia Cao, et al.
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