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Pediatric Nephrology (Berlin, Germany)|January 20, 2011
Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidneyAudrey Putoux, Tania Attie-Bitach, Jéléna Martinovic, et al.
American Journal of Medical Genetics. Part A|March 27, 2014
A new intellectual disability syndrome caused by CTNNB1 haploinsufficiencyEstelle Dubruc, Audrey Putoux, Audrey Labalme, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|February 19, 2021
Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approachThomas Quinaux, Viola Custodi, Audrey Putoux, et al.
European Journal of Medical Genetics|July 19, 2019
A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onsetSara Cabet, Audrey Putoux, Maryline Carneiro, et al.
Human Molecular Genetics|November 17, 2018
Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted miceAudrey Putoux, Dominique Baas, Marie Paschaki, et al.
Journal of Clinical Medicine|March 12, 2020
Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing SeverityJean-Christophe Zech, Audrey Putoux, Evelyne Decullier, et al.
American Journal of Medical Genetics. Part A|May 9, 2019
The first case report of medulloblastoma associated with Tatton-Brown-Rahman syndromeKieron J Sweeney, Carmine Mottolese, Alexandre Belot, et al.
European Journal of Medical Genetics|August 26, 2021
Description of a novel patient with the TRPM3 recurrent p.Val837Met variantLucas W Gauthier, Nicolas Chatron, Sara Cabet, et al.
American Journal of Medical Genetics. Part A|January 17, 2013
Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomyAudrey Putoux, Audrey Labalme, Jean-Marie André, et al.
Neurogenetics|January 8, 2021
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variantIdriss Bousquet, Muriel Bozon, Valérie Castellani, et al.
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