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Curtis R. Coughlin
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Application of a framework to guide genetic testing communication across clinical indications
Miranda L. G. Hallquist
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Apr 1, 2021
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1 min read
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Chromosome Breakpoints
Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation
Yulia Mostovoy
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Feb 1, 2021
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1 min read
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Adolescent
Development and application of an ethical framework for pediatric metabolic and bariatric surgery evaluation
Jaime M. Moore
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Feb 1, 2021
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1 min read
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Aldehyde Dehydrogenase
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
Curtis R. Coughlin
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Jan 1, 2021
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1 min read
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Amino Acid Metabolism
Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey
Laurie Bernstein
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Oct 1, 2020
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1 min read
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Acidosis
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease
Marisa W. Friederich
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Sep 1, 2020
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1 min read
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Alleles
Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish
Nayeli G. Reyes-Nava
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Apr 1, 2020
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1 min read
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Asian People
Pyridoxine-dependent epilepsy is more than just epilepsy
Curtis R. Coughlin
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Mar 1, 2020
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1 min read
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Drug Industry
Developing interactions with industry in rare diseases: lessons learned and continuing challenges
Susan A. Berry
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Jan 1, 2020
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1 min read
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CADRe
Genetic Testing: Consent and Result Disclosure for Primary Care Providers
W. Andrew Faucett
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Nov 1, 2019
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1 min read
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