Zobrazeno 1 - 5
of 5
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::96e97ae6dd3113b65544ab4ca6a4cd64
https://doi.org/10.1158/1538-7445.sabcs20-ps8-14
https://doi.org/10.1158/1538-7445.sabcs20-ps8-14
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e31e267df38e4423c4cde088df14bd8e
https://doi.org/10.1016/j.jns.2021.117707
https://doi.org/10.1016/j.jns.2021.117707
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b20e1e0e84c545b11ff050889cc2231
https://doi.org/10.1038/gim.2016.67
https://doi.org/10.1038/gim.2016.67
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2261866d645ddf12785a3a993a428231
https://pubmed.ncbi.nlm.nih.gov/25755011
https://pubmed.ncbi.nlm.nih.gov/25755011
Autor:
Ingeborg Brønstad, Mitchell Anna Louise, Beate Skinningsrud, Simon Pearce, Alekhya Narravula, Anette Bøe Wolff, Eystein S. Husebye
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::274f1512c946797b01159c8ea0cbcaeb
https://doi.org/10.1530/endoabs.34.oc3.3
https://doi.org/10.1530/endoabs.34.oc3.3