Showing results (361-370 of 371) with videos related to
Sort By:
Pageof 38
European Journal of Human Genetics : EJHG|December 13, 2021
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal studyClaire Forde, Emma Burkitt-Wright, Peter D Turnpenny, et al.ESMO Open|March 5, 2025
Clinical description and development of a prognostic score for neurofibromatosis type 1 (NF1)-associated GISTs: a retrospective study from the NETSARCC Cuvelier, M Brahmi, I Sobhani, et al.American Journal of Respiratory and Critical Care Medicine|May 22, 2020
Phenotype and Outcomes of Pulmonary Hypertension Associated with Neurofibromatosis Type 1Etienne-Marie Jutant, Xavier Jaïs, Barbara Girerd, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2021
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendationEric Legius, Ludwine Messiaen, Pierre Wolkenstein, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 8, 2022
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendationScott R Plotkin, Ludwine Messiaen, Eric Legius, et al.American Journal of Medical Genetics. Part A|March 26, 2019
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeuticsKatherine A Rauen, Abeer Alsaegh, Shay Ben-Shachar, et al.Cancers|July 2, 2021
Severe Phenotype in Patients with Large Deletions of NF1Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, et al.Journal of Medical Genetics|August 4, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variantsLaurence Pacot, Marinus Blok, Dominique Vidaud, et al.The British Journal of Dermatology|March 3, 2021
Supportive care in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: an international, multidisciplinary Delphi-based consensusM-C Brüggen, S T Le, S Walsh, et al.Annals of Surgical Oncology|December 13, 2025
PancreaSeq Genomic Classifier (PancreaSeq GC) Improves Pancreatic Cyst Classification and Detection of Advanced Neoplasia: A Multi-institutional Validation StudyAatur D Singhi, Abigail I Wald, Katelyn Smith, et al.Pageof 38