Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Severe chronic rectocolitis associated with a characteristic 'sunflower MR-imaging pattern'

Autor: A, Fraissenon, H, Demurs-Clavel, L, Guibaud

Publikováno v: Gastroenterology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2a4a3dfa783a7d20bc6f7a7975b9de2c
https://pubmed.ncbi.nlm.nih.gov/36336002

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

Autor: Patrick Edery, L. Guibaud, Bénédicte Gérard, Valérie Castellani, Muriel Bozon, Amélie Piton, Renaud Touraine, Pascale Saugier-Veber, Idriss Bousquet, Audrey Putoux, Damien Sanlaville

Publikováno v: neurogenetics. 22:43-51

Pathogenic variants in L1CAM, the gene encoding the L1 cell adhesion molecule, are responsible for a wide clinical spectrum including X-linked hydrocephalus with stenosis of the Sylvius aqueduct, MASA syndrome (mental retardation, aphasia, shuffling

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7bf365be14d91adaf565bb987d983246
https://doi.org/10.1007/s10048-020-00629-y

Normal intellectual skills in patients with Rhombencephalosynapsis

Autor: L. Lion-François, Juan Velazquez-Dominguez, L. Guibaud, Christelle Rougeot-Jung, Hélène Laurichesse Delmas, Emeline Peyric, Vincent des Portes, Massimiliano Rossi, Mona Massoud, Marie-France Bonnetain, O. Revol, Catherine Sarret, Anne Miret

Publikováno v: European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, 2020, 29, pp.92-100. ⟨10.1016/j.ejpn.2020.09.007⟩
European Journal of Paediatric Neurology, Elsevier, 2020, 29, pp.92-100. ⟨10.1016/j.ejpn.2020.09.007⟩

Objectives Rhombencephalosynapsis (RES) is a very rare cerebellar malformation. Neurodevelopmental outcome of apparently isolated RES remains poorly documented and standardized cognitive assessment, reported in only nine published cases so far, is la

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::153e00d3aff3aa7921713468fe2984f3
https://hal.science/hal-03124493