Jorge S. Marques
Trindade, 4000541, Portugal
Last Updated: 09/26/2026
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Found 10 publications
The Clinical Management of Pompe Disease: A Pediatric Perspective.
Journal: Children (Basel, Switzerland)
Published: August 05, 2022
Association of Turner Syndrome and Growth Hormone Deficiency: A Review.
Journal: Pediatric endocrinology reviews : PER
Published: November 07, 2015
Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency?
Journal: Pediatric endocrinology reviews : PER
Published: November 07, 2015
Visual diagnosis: 8-day-old hypotonic newborn with sparse hair.
Journal: Pediatrics in review
Published: November 02, 2014
Drilling Damage in Composite Material.
Journal: Materials (Basel, Switzerland)
Published: February 27, 2014
Characterization of tomato Cycling Dof Factors reveals conserved and new functions in the control of flowering time and abiotic stress responses.
Journal: Journal of experimental botany
Published: January 09, 2014
Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome.
Journal: Molecular genetics and metabolism
Published: September 10, 2013
Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene.
Journal: Case reports in genetics
Published: February 25, 2013
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening.
Journal: Molecular genetics and metabolism
Published: January 23, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026