Last Updated: 09/26/2026
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Found 7 publications
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.
Journal: The Journal of clinical investigation
Published: January 28, 2025
Streptococcal Mediastinitis Following Placement of a Bravo™ Capsule.
Journal: Clinical pediatrics
Published: November 18, 2024
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Journal: Brain : a journal of neurology
Published: April 13, 2021
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Journal: American journal of human genetics
Published: January 20, 2019
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
Journal: The Journal of clinical endocrinology and metabolism
Published: September 21, 2017
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.
Journal: Human molecular genetics
Published: May 29, 2017
The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings.
Journal: Frontiers in endocrinology
Published: September 15, 2016
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Last Updated: 09/26/2026