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RMD Open|December 10, 2016
What is the reliability of non-trained investigators in recognising structural MRI lesions of sacroiliac joints in patients with recent inflammatory back pain? Results of the DESIR cohortCharlotte Jacquemin, Roxana Rubio Vargas, Rosaline van den Berg, et al.Journal of the National Cancer Institute|October 29, 2011
Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1Eric Pasmant, Audrey Sabbagh, Julien Masliah-Planchon, et al.The Journal of Investigative Dermatology|May 6, 2023
cNF-Skindex in Adults Living with Neurofibromatosis 1: Severity Strata in France and Validation in United States AdultsLaura Fertitta, Kavita Y Sarin, Christina Bergqvist, et al.The British Journal of Dermatology|October 13, 2023
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1Laurence Pacot, Audrey Sabbagh, Pierre Sohier, et al.The British Journal of Dermatology|October 25, 2023
A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trialsLaura Fertitta, Christina Bergqvist, Kavita Y Sarin, et al.Human Mutation|June 1, 2010
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotypeEric Pasmant, Audrey Sabbagh, Gill Spurlock, et al.Journal of Medical Genetics|December 12, 2018
Breast cancer risk in neurofibromatosis type 1 is a function of the type of <i>NF1</i> gene mutation: a new genotype-phenotype correlationIan M Frayling, Victor-Felix Mautner, Rick van Minkelen, et al.Cancers|July 2, 2021
Severe Phenotype in Patients with Large Deletions of <i>NF1</i>Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, et al.Journal of Medical Genetics|August 4, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variantsLaurence Pacot, Marinus Blok, Dominique Vidaud, et al.Pageof 3