Publications by authors named "T Smol"

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Frequency and characteristics of emphysema in adults with FLNA variants: a single-center study.
Arthur Michalski, Catherine Vincent-Delorme, Silvia Demoulin-Alexikova, Thomas Smol, Paul Felloni

Orphanet J Rare Dis· November 2025

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LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Randee E Young, Lu Qiao, Rebecca Hernan, David A Sweetser, Jessica L Waxler, Thomas Smol

Clin Genet· September 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Thomas Smol

medRxiv· September 2025

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Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms.
Jade Fauqueux, Laurence Chaton, Pierre Cleuziou, Anne-Sophie Diependaële, Nathalie Bach, Thomas Smol

Epilepsia· August 2025

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X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling.
M Mansouri, T Smol, N Louhabe, M Rama, N Rada

Balkan J Med Genet· June 2025

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