Andreea Apetrei
Caen, France
Last Updated: 09/26/2026
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Found 9 publications
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.
Journal: Annales d'endocrinologie
Published: May 08, 2026
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.
Journal: Annales d'endocrinologie
Published: March 21, 2026
Abnormal position of a GNAS methylation regulatory element causes autosomal dominant pseudohypoparathyroidism type 1B (PHP1B).
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: February 16, 2026
Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases.
Journal: Communications medicine
Published: September 16, 2025
Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.
Journal: Journal of medical genetics
Published: April 04, 2025
Erratum to "An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)." Kidney International 2023;105:1058-1076.
Journal: Kidney international
Published: June 21, 2024
3q29 duplications: A cohort of 46 patients and a literature review.
Journal: American journal of medical genetics. Part A
Published: September 20, 2023
An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
Journal: Kidney international
Published: September 05, 2023
A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family.
Journal: Bone reports
Published: February 15, 2021
Showing 1-9 of 9
Last Updated: 09/26/2026