Lamisse Mansour‐Hendili

Germline<i>SFTPA1</i>mutation in familial idiopathic interstitial pneumonia and lung cancer

Nadia Nathan, Violaine Giraud, C. Picard et al. · Human Molecular Genetics · 2016 · 142 citations · Full text

P.trp211arg Mutation, Engineering, Advanced Lung Disease +12

Clinical and Genetic Spectrum of Bartter Syndrome Type 3

Elsa Seys, Olga Andrini, Mathilde Keck et al. · Journal of the American Society of Nephrology · 2017 · 118 citations · Full text

Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences

Rosa Vargas‐Poussou, Lamisse Mansour‐Hendili, Stéphanie Baron et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 115 citations · Full text

Deletion of<i>CPEB1</i>Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency

Capucine Hyon, Lamisse Mansour‐Hendili, Sandra Chantot‐Bastaraud et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 31 citations · Full text

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, A. Santini et al. · Nature Genetics · 2025 · 26 citations · Full text