Last Updated: 09/26/2026
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Found 130 publications
Report From the International Conference on Incontinentia Pigmenti: Translating Discovery to Therapy.
Journal: American journal of medical genetics. Part A
Published: April 27, 2026
Bone mineral density in participants with phenylalanine hydroxylase (PAH) deficiency: a report from the PHEFREE rare disorders consortium.
Journal: Molecular genetics and metabolism
Published: March 24, 2026
The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.
Journal: American journal of medical genetics. Part A
Published: September 09, 2025
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
A clinical and genotype-phenotype analysis of MACF1 variants.
Journal: American journal of human genetics
Published: January 10, 2025
Phenylketonuria in adults: we know plenty, but there is much more to learn.
Journal: The American journal of clinical nutrition
Published: November 25, 2024
Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus.
Journal: Orphanet journal of rare diseases
Published: October 09, 2024
Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease.
Journal: JIMD reports
Published: September 05, 2024
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Journal: American journal of human genetics
Published: August 27, 2024
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency.
Journal: Molecular genetics and metabolism
Published: June 07, 2024
Last Updated: 09/26/2026