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Human Mutation|October 28, 2010
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10Karin Frank-Raue, Lisa A Rybicki, Zoran Erlic, et al.Breast Cancer Research and Treatment|January 25, 2007
Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriersJoanne Kotsopoulos, Jan Lubinski, Henry T Lynch, et al.Science Signaling|July 3, 2014
A unified nomenclature and amino acid numbering for human PTENRafael Pulido, Suzanne J Baker, Joao T Barata, et al.The Lancet. Diabetes & Endocrinology|October 23, 2021
Consensus on diagnosis and management of Cushing's disease: a guideline updateMaria Fleseriu, Richard Auchus, Irina Bancos, et al.The Lancet. Diabetes & Endocrinology|November 14, 2025
Cycle characterisation and clinical complications in patients with cyclic Cushing's syndrome: insights from an international retrospective cohort studyElisabeth Nowak, Qilin Zhang, Shuo Zhang, et al.Human Molecular Genetics|August 2, 2023
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic featuresZhigang Liu, Baozhong Xin, Iris N Smith, et al.Cancer Research|April 9, 2009
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-outHartmut P H Neumann, Zoran Erlic, Carsten C Boedeker, et al.Endocrine-Related Cancer|May 12, 2018
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumorsTobias Krauss, Alfonso Massimiliano Ferrara, Thera P Links, et al.Endocrine-Related Cancer|April 9, 2025
Genotype-specific neoplastic risk profiles in patients with VHL diseaseAthina Ganner, Alfonso Massimiliano Ferrara, Peggy Sekula, et al.Pageof 59