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Bonekey Reports|August 1, 2015
Missense mutation in the PTEN promoter of a patient with hemifacial hyperplasiaKiyomi Yamazaki, Charis Eng, Sergei A Kuznetsov, et al.
Journal of Medical Genetics|November 10, 2020
Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopyBrandie Heald, Emma Keel, Jessica Marquard, et al.
Hormone Research in Paediatrics|April 29, 2026
Unraveling the Genetic Heterogeneity of Isolated Growth Hormone Deficiency: Insights from the GENHYPOPIT cohortKarine Aouchiche, Pauline Romanet, Théo Charnay, et al.
Endocrine-Related Cancer|February 20, 2015
Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancerYing Ni, Spencer Seballos, Shireen Ganapathi, et al.
Advances in Therapy|December 22, 2025
Sensitivity Analysis of the Efficacy of Everolimus for Neurocognitive Symptoms in PTEN Hamartoma Tumor SyndromeYiran Liu, Runqiu Wang, Siddharth Srivastava, et al.
The Journal of Clinical Endocrinology and Metabolism|February 17, 2005
Genetic classification of benign and malignant thyroid follicular neoplasia based on a three-gene combinationFrank Weber, Lei Shen, Micheala A Aldred, et al.
The New England Journal of Medicine|May 28, 2020
WWP1 Gain-of-Function Inactivation of PTEN in Cancer PredispositionYu-Ru Lee, Lamis Yehia, Takahiro Kishikawa, et al.
Journal of Pediatric Gastroenterology and Nutrition|December 19, 2013
Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromesCarol J Henderson, Joanne Ngeow, Margaret H Collins, et al.
American Journal of Human Genetics|November 3, 2015
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid CancerLamis Yehia, Farshad Niazi, Ying Ni, et al.
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