Last Updated: 09/26/2026
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Found 10 publications
Cantu syndrome: A longitudinal review of vascular findings in three individuals.
Journal: American journal of medical genetics. Part A
Published: November 25, 2019
A Jittery Newborn With an Abnormal Newborn Screen.
Journal: Clinical pediatrics
Published: August 13, 2019
Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.
Journal: European journal of medical genetics
Published: March 07, 2019
A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia.
Journal: American journal of medical genetics. Part A
Published: September 13, 2018
Neonatal Lung Disease Associated with TBX4 Mutations.
Journal: The Journal of pediatrics
Published: July 18, 2018
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Journal: Hepatology (Baltimore, Md.)
Published: June 14, 2018
Congenital lumbar hernia-A feature of diabetic embryopathy?
Journal: American journal of medical genetics. Part A
Published: April 03, 2018
Congenital heart disease and aortic arch variants associated with mutation in PHOX2B.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 22, 2017
Variable phenotype in a novel mutation in PHOX2B.
Journal: American journal of medical genetics. Part A
Published: August 12, 2016
Showing 1-10 of 10
Last Updated: 09/26/2026