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The Journal of Clinical Endocrinology and Metabolism|January 10, 2015
Endocrine disorders in Fanconi anemia: recommendations for screening and treatmentAnna Petryk, Roopa Kanakatti Shankar, Neelam Giri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2016
Research participant interest in primary, secondary, and incidental genomic findingsJennifer T Loud, Renee C Bremer, Phuong L Mai, et al.
Blood|May 1, 2007
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenitaBlanche P Alter, Gabriela M Baerlocher, Sharon A Savage, et al.
Science Advances|April 18, 2020
Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenanceEléonore Toufektchan, Vincent Lejour, Romane Durand, et al.
Blood Advances|January 30, 2026
Hematologic malignancies in pediatric patients with RUNX1-Familial Platelet Disorder with Associated Myeloid MalignancyAmra Kajdic, Natalie T Deuitch, Erica Bresciani, et al.
The EMBO Journal|September 16, 2020
Re-equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunctionChongkui Sun, Kun Wang, Amanda J Stock, et al.
International Journal of Molecular Sciences|August 15, 2017
Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected RelativesPayal P Khincha, Casey L Dagnall, Belynda Hicks, et al.
Pediatric Neurology|January 27, 2016
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-UpAshley M Burris, Bari J Ballew, Joshua B Kentosh, et al.
The Journal of Clinical Investigation|June 3, 2025
Polygenic modifiers impact penetrance and expressivity in telomere biology disordersMichael Poeschla, Uma P Arora, Amanda Walne, et al.
Genes & Development|September 20, 2014
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1Hande Kocak, Bari J Ballew, Kamlesh Bisht, et al.
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