Disease: Genoa syndrome
- A Knock-In Mouse Model of Cryopyrin-Associated Periodic Syndromes
- A self-repair history: compensatory effect of a <em>de novo</em> variant on the <em>FANCA</em> c.2778+83C>G splicing mutation
- Association of interleukin-23 receptor gene polymorphism with Behçet disease
- Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
- Blood Lymphocyte Subsets and Proinflammatory Cytokine Profile in ROHHAD(NET) and non-ROHHAD(NET) Obese Individuals
- Daytime sleepiness and sleep quality in Charcot-Marie-Tooth disease
- Diabetic striatopathy: an updated overview of current knowledge and future perspectives
- Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
- Enhancing diversity of clinical trial populations in multiple sclerosis
- Familial mesial temporal lobe epilepsy: clinical spectrum and genetic evidence for a polygenic architecture
- Frequency of interleukin 28B rs12979860 C>T variants in Filipino patients chronically infected with hepatitis B virus
- Gene polymorphism of adiponectin in restenosis after coronary stenting
- Genoa syndrome and central diabetes insipidus: a case report
- Holoprosencephaly and primary craniosynostosis: the Genoa syndrome
- Home-Based Monitoring of Eating in Adolescents: A Pilot Study
- How to optimize outcome of patients undergoing HLA-matched related haematopoietic stem cell transplantation in acquired and inherited bone marrow failure syndromes
- Improving outcomes for high-risk ALL: translating new discoveries into clinical care
- Incidence and Outcomes of Acute Respiratory Distress Syndrome in Brain-Injured Patients Receiving Invasive Ventilation: A Secondary Analysis of the ENIO Study
- Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome?
- Serotype- and virulence-associated gene profile of Streptococcus suis isolates from pig carcasses in Chiang Mai Province, Northern Thailand
- Social cognition in hyperkinetic movement disorders: a systematic review
- State of the art in childhood nephrotic syndrome: concrete discoveries and unmet needs
- Teriflunomide and Time to Clinical Multiple Sclerosis in Patients With Radiologically Isolated Syndrome: The TERIS Randomized Clinical Trial
- Toward a navigation framework for fetoscopy
- Two possible barriers blocking conjugation between different megakaryotypes of Blepharisma