Arnaud Vanlander

Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease

Johan L.K. Van Hove, Marisa W. Friederich, Roxanne A. Van Hove, Jessica C. Lee et autres

us, nz, ca, at, be (code pays fourni par la source)

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease

Johan L.K. Van Hove, Marisa W. Friederich, Roxanne A. Van Hove, Jessica C. Lee et autres

us, nz, ca, at, be (code pays fourni par la source)

Genetic Basis of Hypsarrhythmia: Expanding the PHACTR1 Spectrum and Pathway to Targeted Therapy

Karen Willième, Annelies Dheedene, Arnaud Vanlander, Patrick Verloo et autres

be (code pays fourni par la source)

Mitochondrial dysfunction characterises the multigenerational effects of maternal obesity on MASLD

Anneleen Heldens, Milton Antwi, Louis Onghena, Tim Meese et autres

be (code pays fourni par la source)

Cardiac stress responses in Marfan syndrome may activate mechanisms related to mitochondrial dysfunction: analyses in human stem cell-derived cardiomyocytes

Marthe Bauwens, Zuzanna Jurkiewicz, Emiel Van Wetter, Kiara Van Acker-Verberckt et autres

145P Efficacy of SMA NBS: 4-year comparative study with control group

Tamara Dangouloff, Liesbeth De Waele, Diane Beysen, N. Smeets et autres

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Cécile Brachet, Alexander Laemmle, Martine Cools, Kay‐Sara Sauter et autres

be, ch (code pays fourni par la source)

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Nika Schuermans, Salima El Chehadeh, Dimitri Hemelsoet, Jérémie Gautheron et autres

be, fr, Algérie, jp, de (code pays fourni par la source)

Comparison of SARS-CoV-2 seroconversion in children with chronic diseases with healthy children and adults during the first waves of the COVID-19 pandemic

Levi Hoste, Agnieszka Prytula-Ebels, Jo Dehoorne, Ruth De Bruyne et autres

be (code pays fourni par la source)

Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders

Nika Schuermans, Hannah Verdin, Jody Ghijsels, Madeleine Hellemans et autres

be, us (code pays fourni par la source)

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood et autres

au, es, de, se, fr, lb, sa, be, us, gb, ca, no, nl, pt (code pays fourni par la source)

Neonatal lactic acidosis explained by LARS2 defect

Boél De Paepe, Joél Smet, Robert Kopajtich, Holger Prokisch et autres

be, de (code pays fourni par la source)