Results 131 to 140 of about 123,532 (341)
Abstract Objectives Complex PTSD (cPTSD) has a high comorbidity rate with chronic physical health conditions. This is the first qualitative study to investigate what factors might be contributing to this relationship. Methods Twelve participants with cPTSD and chronic physical health conditions were recruited from mental health services across London ...
Laura Blackett+3 more
wiley +1 more source
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut+7 more
wiley +1 more source
The Significance of the Short Back Muscles: In Relation to Scoliosis from Poliomyelitis [PDF]
Beatrice Woodcock
openalex +1 more source
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl+15 more
wiley +1 more source
D. Grossman+15 more
semanticscholar +1 more source
Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency
We report three people from two unrelated families with a clinical diagnosis of thoracic dystrophy characterized by short or missing ribs, narrow chest, and respiratory insufficiency. Affected people each have rare, biallelic, predicted deleterious missense substitutions in FGF4, a gene known to be essential for the formation of the thoracic skeleton ...
Laura M. Watts+8 more
wiley +1 more source