Last Updated: 09/26/2026
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Found 97 publications
The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: April 21, 2026
Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre international.
Journal: Developmental medicine and child neurology
Published: April 09, 2024
Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional.
Journal: Developmental medicine and child neurology
Published: April 06, 2024
My Journey With Arthrogryposis and Some of the People Who Made a Difference.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: April 03, 2024
Personal journeys to and in human genetics and dysmorphology.
Journal: American journal of medical genetics. Part A
Published: November 05, 2023
Common data elements for arthrogryposis multiplex congenita: An international framework.
Journal: Developmental medicine and child neurology
Published: July 02, 2023
The importance of age-specific gene expression.
Journal: American journal of medical genetics. Part A
Published: May 30, 2023
Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry.
Journal: BMJ open
Published: October 28, 2022
Perspectives on the future of dysmorphology.
Journal: American journal of medical genetics. Part A
Published: June 06, 2022
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.
Journal: American journal of medical genetics. Part A
Published: January 06, 2022
Examining the Vanishing Twin Hypothesis of Neural Tube Defects: Application of an Epigenetic Predictor for Monozygotic Twinning.
Journal: Twin research and human genetics : the official journal of the International Society for Twin Studies
Published: July 26, 2021
The contributions of careful clinical observations: A legacy.
Journal: American journal of medical genetics. Part A
Published: March 30, 2021
Last Updated: 09/26/2026