• A curious case of asphyxiating thoracic dystrophy in an adult
• A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation
• A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia
• Acute coronary syndrome and cannabis use: a retrospective cohort study
• Best macular dystrophy complicated by macular neovascularization: Case report of a young woman with CLOVES syndrome
• Case report: A simple and reliable approach for progressive internal distraction of the sternum for Jeune syndrome (asphyxiating thoracic dystrophy): preliminary experience and literature review of surgical techniques
• Chest Wall Deformities
• Chest Wall Deformities in Children and Adolescents
• Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting
• Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
• Coding and non-coding variants in the ciliopathy gene <em>CFAP410</em> cause early-onset non-syndromic retinal degeneration
• Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration
• Compound heterozygous <em>WDR19</em> variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report
• Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2
• Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome
• Epithelial Predominant Wilms Tumor in an Adult Patient: Case Report and Literature Review
• Evaluation of polysomnography findings in children with genetic skeletal disorders
• Fetal ciliopathies: a retrospective observational single-center study
• Lateral Thoracic Expansion for Jeune's Syndrome, Surgical Approach, and Technical Details
• Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of <em>ORC6</em> Mutations and the Development of a Prenatal Test
• NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination
• Perceptions of surgical difficulty in liver transplantation: A European survey and development of the Pitié-Salpêtrière classification
• Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in <em>DYNC2H1</em> Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
• Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
• Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm
• Proteomics of Plasma and Plasma-Treated Podocytes: Application to Focal and Segmental Glomerulosclerosis
• Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype
• Role of Primary Cilia in Bone and Cartilage
• Sleepiness among adolescents: etiology and multiple consequences
• Surgical treatment of a 36-year-old patient with asphyxiating thoracic dysplasia
• Syndrome BASCULE chez une jeune femme ayant un syndrome de tachycardie orthostatique posturale
• THE CASE OF JEUNE SYNDROME AMONG THE PRECARPATHIAN POPULATION
• Therapeutic approaches in sickle cell disease
• Thoracic insufficiency syndrome: Approaches to assessment and management
• Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease
• Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement