Fortanier, E. et al. 2019 Structural Connectivity Alterations in Amyotrophic Lateral Sclerosis: A Graph Theory Based Imaging Study Background: Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive neurodegenerative disorder. Diffusion magnetic resonance imagining (MRI) studies have consistently showed widespread... - issue: - volume: 13 - pages: .
Kinoshita, J. et al. 2019 26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019 Neuromuscul. Disord. - issue: 10 - volume: 29 - pages: 811-817.
Grelet, M. et al. 2019 SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation - issue: 4 - volume: 28 - pages: 205-210.
Suffee-Mosbah, N. et al. 2019 A subpopulation of epicardium-derived cells are preprogrammed towards fibroblast differentiation in the atrial myocardium - issue: 1 - volume: 40 - pages: 688.
Kinoshita, J. et al. 2019 26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019 - issue: 10 - volume: 29 - pages: 811-817.
Bordet, C. et al. 2019 Psycho-social impact of predictive genetic testing in hereditary heart diseases (PREDICT Study) - issue: 2 - volume: 27 - pages: 1317-1318.
Abaji, M. et al. 2019 A homozygous loss-of-function variant in the TRAPPC2L gene causes a neurodevelopmental disorder overlapping TRAPPC9-related disorder - issue: 2 - volume: 27 - pages: 1407.
Racine, C. et al. 2019 Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A - issue: 2 - volume: 27 - pages: 1529-1530.
Wang, Q. et al. 2019 Characterization of heterozygous PMS2 variants in French patients with Lynch syndrome - issue: 2 - volume: 27 - pages: 1595.
Gorokhova, S. et al. 2019 A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports - issue: 2 - volume: 27 - pages: 1661.
Mejean, C. et al. 2019 Chronic hepatitis associated with antiribosomal-P autoantibodies in a 14-year-old girl - issue: 10 - volume: 7 - pages: 2008-2010.
Kinoshita, J. et al. 2019 26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019 - issue: 10 - volume: 29 - pages: 811-817.
Bordet, C. et al. 2019 Psycho-social impact of predictive genetic testing in hereditary heart diseases (PREDICT Study) - issue: 2 - volume: 27 - pages: 1317-1318.
Abaji, M. et al. 2019 A homozygous loss-of-function variant in the TRAPPC2L gene causes a neurodevelopmental disorder overlapping TRAPPC9-related disorder - issue: 2 - volume: 27 - pages: 1407.
Racine, C. et al. 2019 Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A - issue: 2 - volume: 27 - pages: 1529-1530.
Wang, Q. et al. 2019 Characterization of heterozygous PMS2 variants in French patients with Lynch syndrome - issue: 2 - volume: 27 - pages: 1595.
Gorokhova, S. et al. 2019 A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports - issue: 2 - volume: 27 - pages: 1661.
Cuny, T. et al. 2019 Acromegaly in Carney complex Purpose Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by mucocutaneous pigmentation, cardiac, cutaneous myxomas and endocrine overactivity. It is generally caused by... - issue: 5 - volume: 22 - pages: 456-466.
Mejean, C. et al. 2019 Chronic hepatitis associated with antiribosomal-P autoantibodies in a 14-year-old girl We reported the first pediatric case of auto-immune hepatitis with positive anti-P antibodies. On the basis of our findings, adding auto anti-P screening in pediatric seronegative HAI may be... - issue: 10 - volume: 7 - pages: 2008-2010.