Last Updated: 09/26/2026
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Found 7 publications
A Revealing Case of SHQ1-Related Neurodevelopmental Disorder: Expanding the Genotypic and Phenotypic Frontier.
Journal: Journal of child neurology
Published: March 26, 2026
Triad of hypovitaminosis A, hyperostosis, and optic neuropathy in males with autism spectrum disorders.
Journal: Nutritional neuroscience
Published: March 05, 2021
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Journal: Human mutation
Published: February 09, 2019
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Journal: Molecular genetics and metabolism
Published: December 04, 2017
Transcatheter Aortic Valve Implantation in a Nonagenarian with Aortic Aneurysm: Futility or Utility?
Transcatheter Aortic Valve Implantation in a Nonagenarian with Aortic Aneurysm: Futility or Utility?
Journal: Case reports in cardiology
Published: August 16, 2017
TAVI device selection: time for a patient-specific approach.
Journal: EuroIntervention : journal of EuroPCR in collaboration with the Working Group on Interventional Cardiology of the European Society of Cardiology
Published: September 19, 2016
Transcarotid Transcatheter Aortic Valve Replacement: Feasibility and Safety.
Journal: JACC. Cardiovascular interventions
Published: July 30, 2015
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Last Updated: 09/26/2026