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David H. Viskochil

University of Utah

176

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9973

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

2020 Brain
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Are Some Randomized Clinical Trials Impossible

2020 Journal of Pediatric Orthopaedics
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Analysis of heparan sulfate and heparan sulfate non-reducing ends in mucopolysaccharidosis type I

2020 Molecular Genetics and Metabolism
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Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in subjects with mucopolysaccharidosis type VII < 5 years old

2020 Molecular Genetics and Metabolism
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A Phase II Study of Continuous Oral mTOR Inhibitor Everolimus for Recurrent, Radiographic-Progressive Neurofibromatosis Type 1-Associated Pediatric Low-Grade Glioma: A Neurofibromatosis Clinical Trials Consortium Study.

2020 Neuro-oncology
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Health Supervision for Children With Neurofibromatosis Type 1

2019 Pediatrics
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Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1

2019 Annals of clinical and translational neurology
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Author response for "Genotype Phenotype Relationships in Mucopolysaccharidosis Type I: Insights from the International MPS I Registry"

2019
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BCL11A-Related Intellectual Disability

2019
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NF1 Somatic Mutation in Dystrophic Scoliosis

2019 Journal of Molecular Neuroscience
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