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Alejandro Iglesias

Columbia University Medical Center

22

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452

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Point-mass biomechanical model of the upper extremity during Lofstrand crutch-assisted gait

2020 IEEE Transactions on Neural Systems and Rehabilitation Engineering
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Complicated cases and the need for individualized follow up plans for children diagnosed with Pompe disease via newborn screening

2020 Molecular Genetics and Metabolism
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Impact of Patient Education Videos on Genetic Counseling Outcomes after Exome Sequencing

2019 Patient Education and Counseling
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De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

2019
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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

2018 American Journal of Human Genetics
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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

2018 American Journal of Medical Genetics Part A
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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

2018 bioRxiv
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Erratum: Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

2018 American Journal of Human Genetics
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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

2018 PLOS Genetics
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A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa

2017 The Journal of Pediatrics
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