Last Updated: 09/26/2026
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Found 10 publications
Correction: Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
Published: March 18, 2024
Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data.
Journal: American journal of medical genetics. Part A
Published: October 13, 2023
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.
Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
Published: July 06, 2023
Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group.
Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
Published: December 30, 2022
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
Published: December 29, 2022
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 02, 2018
Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide.
Journal: Journal of women's health (2002)
Published: April 08, 2017
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.
Journal: Molecular genetics and metabolism
Published: November 30, 2016
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 28, 2016
Improved prenatal detection of congenital heart disease in an integrated health care system.
Journal: Pediatric cardiology
Published: May 17, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026