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Journal of Medical Genetics|January 31, 2020
Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paragangliomaAlexandre Buffet, Bruna Calsina, Shahida Flores, et al.
EMBO Molecular Medicine|March 17, 2022
CD38-NADase is a new major contributor to Duchenne muscular dystrophic phenotypeAntoine de Zélicourt, Abdallah Fayssoil, Mbarka Dakouane-Giudicelli, et al.
The Journal of Clinical Endocrinology and Metabolism|January 31, 2019
Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or PheochromocytomaAlexandre Buffet, Laurène Ben Aim, Sophie Leboulleux, et al.
Journal of the National Comprehensive Cancer Network : JNCCN|May 14, 2026
Impact of the French ENDOCAN-COMETE Network on Overall Survival in Rare Adrenocortical CarcinomasRossella Libé, Matthieu Faron, Anne-Sophie Foucan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2018
Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patientsBruna Calsina, Maria Currás-Freixes, Alexandre Buffet, et al.
The Lancet. Diabetes & Endocrinology|May 11, 2026
Safety of biopsy in phaeochromocytoma and paraganglioma: an international, multicentre, retrospective cohort studyLiang Zhang, Gautier Tisserand, Yanting Shen, et al.
Radiology|November 26, 2024
Liquid Biopsy versus CT: Comparison of Tumor Burden Quantification in 1065 Patients with MetastasesLama Dawi, Younes Belkouchi, Littisha Lawrance, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|February 28, 2015
SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T)Thomas G Papathomas, Lindsey Oudijk, Alexandre Persu, et al.
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