Luisa Bonafe
Vevey, VD, Switzerland
Last Updated: 09/26/2026
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Found 51 publications
Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).
Journal: American journal of medical genetics. Part A
Published: February 27, 2026
Pediatrics. Diagnosis of generalized joint hypermobility in children
Journal: Revue medicale suisse
Published: January 30, 2025
Identification of potential non-invasive biomarkers in diastrophic dysplasia.
Journal: Bone
Published: March 17, 2023
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia.
Journal: Clinical dysmorphology
Published: December 12, 2022
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Journal: American journal of medical genetics. Part A
Published: September 29, 2020
Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life.
Journal: Swiss medical weekly
Published: July 16, 2020
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Journal: Nature
Published: October 05, 2019
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.
Journal: Journal of bone and mineral metabolism
Published: February 18, 2018
Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
Journal: Nature genetics
Published: May 27, 2017
Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism.
Journal: Respiration; international review of thoracic diseases
Published: May 16, 2017
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.
Journal: Clinical nutrition (Edinburgh, Scotland)
Published: April 20, 2017
Current Care and Investigational Therapies in Achondroplasia.
Journal: Current osteoporosis reports
Published: February 23, 2017
Last Updated: 09/26/2026