Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Alekhya Narravula"'
Autor:
Sarah M. Nielsen, Natalie Rickers, Emily Decker, Peter D. Beitsch, Hana Sroka, Ed D. Esplin, Robert L. Nussbaum, Alekhya Narravula, Pat Whitworth
Publikováno v:
Cancer Research. 81:PS8-14
Background:Therapeutic and risk management options have expanded for patients harboring pathogenic variants (PVs) in cancer predisposition genes. Historically, testing costs and clinical implementation challenges led to restrictive testing guidelines
Autor:
Edward D. Esplin, Alekhya Narravula, Sara L. Bristow, Chad Moretz, Ana Morales, Swaroop Aradhya, Kathryn E. Hatchell, Dianalee McKnight
Publikováno v:
Journal of the Neurological Sciences. 429:117711
Autor:
Darlene Riethmaier, Sean Hwang, Ana Morales, Alekhya Narravula, Kristina Robinson, Marissa Kellogg, Anne Berg, Sara L. Bristow, Felippe Borlot, Rebecca Truty, Swaroop Aradhya, Jody Westbrook, Dianalee McKnight
Publikováno v:
Journal of the Neurological Sciences. 429:117707
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
As exome and genome sequencing using high-throughput sequencing technologies move rapidly into the diagnostic process, laboratories and clinicians need to develop a strategy for dealing with uncertain findings. A commitment must be made to minimize t
Autor:
Lora J. H. Bean, Samantha A. Schrier Vergano, Steven P. Trau, Alekhya Narravula, Katherine G. Langley
Publikováno v:
American journal of medical genetics. Part A. (5)
Allan-Herndon-Dudley syndrome (AHDS, MIM 300523) is an X-linked neurodegenerative disorder characterized by intellectual disability, severe hypotonia, diminished muscle mass, and progressive spastic paraplegia. All affected males have pathognomonic t
Autor:
Ingeborg Brønstad, Mitchell Anna Louise, Beate Skinningsrud, Simon Pearce, Alekhya Narravula, Anette Bøe Wolff, Eystein S. Husebye
Publikováno v:
Endocrine Abstracts.