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Neurobiology of Disease|December 19, 2006
The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcriptsAmanda J Myers, Alan M Pittman, Alice S Zhao, et al.Plos Genetics|September 24, 2010
Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3HAlan M Pittman, Silvia Naranjo, Sanni E Jalava, et al.Neurology. Genetics|May 24, 2019
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathyAlejandro Horga, Enrico Bugiardini, Andreea Manole, et al.Journal of Breast Imaging|May 31, 2021
Impact of the COVID-19 Pandemic on Breast Imaging EducationJames S Chalfant, Sarah M Pittman, Pranay D Kothari, et al.Journal of Breast Imaging|March 1, 2024
Adaptations of Breast Imaging Centers to the COVID-19 Pandemic: A Survey of California and TexasJames S Chalfant, Ethan O Cohen, Jessica W T Leung, et al.Nature Genetics|August 15, 2006
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disabilityCharles Shaw-Smith, Alan M Pittman, Lionel Willatt, et al.Neurobiology of Aging|September 19, 2016
Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's diseaseS J Lubbe, V Escott-Price, A Brice, et al.Blood|April 18, 2024
Standardized indolent systemic mastocytosis evaluations across a health care system: implications for screening accuracyJeremy C McMurray, Curtis S Pacheco, Brandon J Schornack, et al.Neuromuscular Disorders : NMD|September 29, 2019
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centreEnrico Bugiardini, Alaa M Khan, Rahul Phadke, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2022
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalitiesElla F Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, et al.Pageof 19