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.
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... Pituitary - issue: 5 - volume: 22 - pages: 456-466.
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.
Laquiere, AE. et al. 2019 Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue - issue: 36 - volume: 25 - pages: 5530-5542.
Laquiere, AE. et al. 2019 Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue BACKGROUND DNA mutational analysis of pancreatic cystic fluid (CF) is a useful adjunct to the evaluation of pancreatic cysts. KRAS/GNAS or RAF/PTPRD/CTNNB1/RNF43 mutations are highly specific to... - issue: 36 - volume: 25 - pages: 5530-5542.
Martin, G. et al. 2019 Mosaicism of XX and XXY cells accounts for high copy number of Toll like Receptor 7 and 8 genes in peripheral blood of men with Rheumatoid Arthritis - issue: - volume: 9 - pages: .
Martin, G. et al. 2019 Mosaicism of XX and XXY cells accounts for high copy number of Toll like Receptor 7 and 8 genes in peripheral blood of men with Rheumatoid Arthritis The X chromosome, hemizygous in males, contains numerous genes important to immunological and hormonal function. Alterations in X-linked gene dosage are suspected to contribute to female predominance... - issue: - volume: 9 - pages: .