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Acta Neuropathologica Communications|November 10, 2020
Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosisHélène Lasolle, Mad-Hélénie Elsensohn, Anne Wierinckx, et al.
The American Journal of Surgical Pathology|November 19, 2025
Molecular Relationship Between Ovarian Sertoli-Leydig Cell Tumors and Their Heterologous Elements: Emphasis on the Possible Prognostic Significance of TERT Pathogenic VariantsAlexis Trecourt, Clémence Scard, Françoise Descotes, et al.
European Journal of Medical Genetics|February 19, 2013
Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasiaDelphine Rocas, Eudeline Alix, Jessica Michel, et al.
Annals of Neurology|October 21, 2020
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OSLaure Mazzola, Karen L Oliver, Audrey Labalme, et al.
Cytogenetic and Genome Research|March 19, 2020
A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic MechanismPauline Monin, Nicolas Reynaud, Nadine Hanna, et al.
Epilepsia|April 25, 2026
Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathyMira Hamze, Robyn Whitney, Dorothée Ville, et al.
Head and Neck Pathology|December 29, 2025
Histomolecular Features of a Rare Subtype of Pleomorphic Adenoma Characterised by Abundant Lymphoid Stroma and HMGA2 RearrangementsZiyad Alsugair, Seddig Momenkhan, Marie Donzel, et al.
Brain : a Journal of Neurology|April 14, 2020
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathyNicolas Chatron, Felicitas Becker, Heba Morsy, et al.
The Journal of Clinical Investigation|February 3, 2015
Functional variants of POC5 identified in patients with idiopathic scoliosisShunmoogum A Patten, Patricia Margaritte-Jeannin, Jean-Claude Bernard, et al.
The Journal of Pediatrics|March 29, 2013
Clinical and molecular spectrum of renal malformations in Kabuki syndromeJean-Benoît Courcet, Laurence Faivre, Caroline Michot, et al.
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