Dr. Ivana DABAJ
Fonction : Maître de Conférences des Universités - Praticien Hospitalier
Groupe : SML
Publications associées
- Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain · 2023 - Characterization of cardiac involvement in children with LMNA-related muscular dystrophy.
Front Cell Dev Biol · 2023 - Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.
Front Genet. · 2023 - Ischemic stroke on SARS-CoV2 vasculitis in a healthy young girl.
Health Sci Rep. · 2023 - Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Genome Med · 2022 - J Neurol. 2022 May
J Neurol · 2022 - Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.
J Clin Med · 2022 - Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
J Med Genet · 2022 - The Double degree in Health and Sciences Curriculum at the Rouen Health UFR: Current situation and perspectives].
Med Sci (Paris). 2022 Aug-Sep · 2022 - Cerebral Palsy in Very Preterm Infants: A Nine-Year Prospective Study in a French Population-Based Tertiary Center.
J Pediatr · 2021 - An Unusual Peak in a Common Clinical Presentation.
Clin Chem · 2021 - Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen.
Pediatr Pulmonol · 2021 - Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy: Long-term Follow-up Results in a Series of 59 Patients.
J Pediatr Orthop · 2021 - An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency.
Diagnostics (Basel) · 2021 - International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Brain Commun · 2021 - Diagnosis and Management of Glioblastoma: A Comprehensive Perspective.
J Pers Med. 2021 Apr 1 · 2021 - NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
Life (Basel) · 2021 - Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Diagnostics (Basel) · 2021 - Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging.
Sci Rep · 2021 - Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
Circulation · 2019 - Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience.
Diagnostics (Basel) · 2019