Browsing by Author Nizon, Mathilde

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Issue DateTitleAuthor(s)Citation
2016Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal RegionOuvrier, Robert; Cogne, Benjamin; Devaux, Jerome; Isidor, Bertrand; Magee, A; Magy, Laurent; Mathis, Stephane; Nizon, Mathilde; Pereon, Yann; Richard, Laurence; Vallat, Jean-Michel; Zuchner, Stephan; Childrens Hospital Westmead: Paediatrics & Child HealthContactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region, Journal of Neuropathology and Experimental Neurology, vol.75, 12, 2016,pp 1155-1159
2012Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan SynthesisSillence, David; Abu-Libdeh, Bassam; Alanay, Yasemin; Albrecht, Beate; De Leonardis, Fabio; et al, Various; Forlino, Antonella; Fradin, Melanie; Huber, Celine; Merrina, Rodolphe; Nizon, Mathilde; Tuysuz, Beyhan; Children's Hospital Westmead: Paediatrics & Child HealthFurther Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis, Human Mutation, vol.33, 8, 2012,pp 1261-1266
2012IMPAD1 Mutations in Two Catel-Manzke Like PatientsSillence, David; Alanay, Yasemin; Cormier-Daire, Valerie; Genevieve, David; Huber, Celine; Kiper, Pelin; Munnich, Arnold; Nizon, Mathilde; Tuysuz, Beyhan; Children's Hospital Westmead: Paediatrics & Child HealthIMPAD1 Mutations in Two Catel-Manzke Like Patients, American Journal of Medical Genetics. Part A, vol.158A, 9, 2012,pp 2183-2187