Benoit, S. et al. 2019 Self-report questionnaire vs. clinical evaluation form in the French National Registry on facioscapulohumeral dystrophy: a statistical comparison - issue: 1, SI - volume: 26 - pages: 325.
Piard, J. et al. 2019 The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018) - issue: 7 - volume: 21 - pages: 1667.
Pareyson, D. et al. 2019 A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) - issue: 1 - volume: 86 - pages: 55-67.
Amodru, V. et al. 2019 LARGE ADRENAL INCIDENTALOMAS REQUIRE A DEDICATED DIAGNOSTIC PROCEDURE. Objective: The management of large nonsecreting adrenal tumors (at least 4 cm) is still a matter of debate as it is unclear whether imaging, especially (18)F-fluorodeoxyglucose (FDG), can be used to... Endocr Pract - issue: 7 - volume: 25 - pages: 669-677.
Piard, J. et al. 2019 The phenotypic spectrum of WWOX-related Epileptic Encephalopathy: 20 additional cases and review of the literature - issue: 1 - volume: 27 - pages: 246-247.
Piard, J. et al. 2019 Epileptic encephalopathy due to BRAT1 pathogenic variants: report of eight new patients - issue: 1 - volume: 27 - pages: 263.
Yauy, K. et al. 2019 Evaluation of missense and splicing in silico predictions tools and implementation of an efficient SNV prioritization NGS pipeline for molecular diagnosis of Myopathies and Muscular Dystrophies - issue: 1 - volume: 27 - pages: 339.
Pujol, P. et al. 2019 Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations - issue: 1 - volume: 27 - pages: 562-563.
Faivre, L. et al. 2019 Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene - issue: 1 - volume: 27 - pages: 795-796.
Greco, A. et al. 2019 Molecular Inverse Comorbidity between Alzheimer's Disease and Lung Cancer: New Insights from Matrix Factorization Matrix factorization (MF) is an established paradigm for large-scale biological data analysis with tremendous potential in computational biology. Here, we challenge MF in depicting the molecular bases... - issue: 13 - volume: 20 - pages: .
Benoit, S. et al. 2019 Self-report questionnaire vs. clinical evaluation form in the French National Registry on facioscapulohumeral dystrophy: a statistical comparison - issue: 1, SI - volume: 26 - pages: 325.
Piard, J. et al. 2019 The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018) - issue: 7 - volume: 21 - pages: 1667.
Pareyson, D. et al. 2019 A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) Objective Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3... - issue: 1 - volume: 86 - pages: 55-67.
Castinetti, F. et al. 2019 Age and MEN2 outcome. Aging (Albany NY) - issue: 11 - volume: 11 - pages: 3416-3417.
O'Donnell-Luria, AH. et al. 2019 Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker... Am. J. Hum. Genet. - issue: 6 - volume: 104 - pages: 1210-1222.
Buxbaum, JN. et al. 2019 Treatment of hereditary and acquired forms of transthyretin amyloidosis in the era of personalized medicine: the role of randomized controlled trials There have now been randomized controlled trials of four different therapeutics for hereditary amyloid polyneuropathy related to transthyretin (TTR) deposition and one for amyloidotic cardiomyopathy... Amyloid - issue: 2 - volume: 26 - pages: 55-65.
Romano, D. et al. 2019 Relevance of neuroendocrine tumours models assessed by kinomic profiling - issue: 3 - volume: 80 - pages: 144-148.
Frankel, D. et al. 2019 Detection of ALK and ROS1 rearrangements by immunocytochemistry on cytological samples - issue: 3 - volume: 39 - pages: 227-236.
Chikhaoui, A. et al. 2019 Particular forms of xeroderma pigmentosum and Cockayne syndrome in the Tunisian population - issue: 6 - volume: 180 - pages: E224-E225.
Romanet, P. et al. 2019 Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants - issue: 6 - volume: 40 - pages: 661-674.