Last Updated: 09/26/2026
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Found 5 publications
Multidisciplinary Consulting Team for Complicated Cases of Neurodevelopmental and Neurobehavioral Disorders: Assessing the Opportunities and Challenges of Integrating Pharmacogenomics into a Team Setting.
Journal: Journal of personalized medicine
Published: February 03, 2022
Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.
Journal: American journal of medical genetics. Part A
Published: December 13, 2018
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
Journal: American journal of medical genetics. Part A
Published: January 30, 2017
Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.
Journal: Neuropediatrics
Published: November 23, 2016
Cerebral Arteriopathy in a Newborn With Incontinentia Pigmenti.
Journal: Pediatric neurology
Published: June 02, 2015
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Last Updated: 09/26/2026