Osteopetrosis: the patient point of view and medical challenges
M Cohen-Solal, C Collet, P Bizot, C Pavis… - Bone, 2023 - Elsevier
Osteopetrosis is defined by osteoclast failure that leads to high bone mineral density. In
adults, the major complications are atypical fractures with an unusual delay of fracture …
adults, the major complications are atypical fractures with an unusual delay of fracture …
Assessment highlights need for improvement in standards of development of core outcome sets for rare genetic diseases
Objectives A rare disease is classified as such if it affects less than one person in 2,000. The
Core Outcome Set STandards for Development (COS-STAD) is a set of standards that …
Core Outcome Set STandards for Development (COS-STAD) is a set of standards that …
Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Design, and Methods for the GALAXY Registry
A Carl, S Bothwell, K Swenson, L Cohen, V Cover… - medRxiv, 2024 - medrxiv.org
Sex chromosome aneuploidies (SCAs) are a family of genetic disorders that result from an
atypical number of X and/or Y chromosomes. SCAs are the most common chromosomal …
atypical number of X and/or Y chromosomes. SCAs are the most common chromosomal …
[PDF][PDF] Exploring the psychosocial impact and support needs of men with breast cancer from the perspectives of patients, informal carers and healthcare professionals
B Herring - 2023 - uwe-repository.worktribe.com
Although rare, the prevalence of Breast Cancer in Men (BCiM) is increasing worldwide. It is
commonly perceived as a female disease, despite being responsible for proportionally more …
commonly perceived as a female disease, despite being responsible for proportionally more …