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Annales De Pathologie|September 23, 2017
[An atypical case of lipoid proteinosis]Xavier Grimaux, Rida El Ayoubi, Magalie Rabin, et al.
Diseases of the Colon and Rectum|August 4, 2007
Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristicsGuillaume Bouguen, Sylvain Manfredi, Martine Blayau, et al.
Social Cognitive and Affective Neuroscience|July 27, 2015
Theory of mind and empathy in preclinical and clinical Huntington's diseaseNajia Adjeroud, Jérémy Besnard, Nicole El Massioui, et al.
Clinical Genetics|July 11, 2019
Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disabilityAlban Ziegler, Patricia Bader, Kirsty McWalter, et al.
Experimental Neurology|October 27, 2019
Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2KJulien Cassereau, Arnaud Chevrollier, Philippe Codron, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|September 13, 2019
Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signsClara Houdayer, Alban Ziegler, Françoise Boussion, et al.
European Journal of Medical Genetics|August 14, 2018
Severe gynaecological involvement in Proteus SyndromeMaella Severino-Freire, Aude Maza, Paul Kuentz, et al.
Medecine Sciences : M/S|October 9, 2010
[From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders]Guy Lenaers, Patrizia Amati-Bonneau, Cécile Delettre, et al.
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