Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Emily Gallant"'
Autor:
Perri R. Tutelman, Chantale Thurston, Tamara Rader, Brianna Henry, Tristyn Ranger, Mohamed Abdelaal, Michelle Blue, Timothy W. Buckland, Stefanie Del Gobbo, Lexy Dobson, Emily Gallant, Cheryl Heykoop, Mackenzie Jansen, Lorna Larsen, Nicole Maseja, Sapna Oberoi, Vinesha Ramasamy, Marlie Smith, Evan Taylor, Nadia Wendowsky, Sara Beattie, Jacqueline Bender, Kathryn A. Birnie, Sheila N. Garland, Lindsay Jibb, Melanie Noel, Fiona S. M. Schulte
Publikováno v:
Current Oncology, Vol 31, Iss 5, Pp 2874-2880 (2024)
Adolescents and young adults (AYAs; 15–39 years) diagnosed with cancer have unique medical and psychosocial needs. These needs could be better addressed through research that is focused on the topics that matter most to them. However, there is curr
Externí odkaz:
https://doaj.org/article/08bab3fb2e0b403bb5e1dc80ae5f58fe
Autor:
Heidi L. Rehm, Maninder Kaur, Matthew A. Deardorff, Shane T. Jensen, Joseph T. Glessner, Jenelle Holst, Ian D. Krantz, Dinah Clark, Struan F.A. Grant, Hakon Hakonarson, Ellen A. Tsai, Peter J. Gruber, Emily Gallant, Lauren J. Francey, Laura K. Conlin, Nancy B. Spinner, Micah A. Berman
Publikováno v:
American Journal of Medical Genetics Part A. 161:2134-2147
This report describes an algorithm developed to predict the pathogenicity of copy number variants (CNVs) in large sample cohorts. CNVs (genomic deletions and duplications) are found in healthy individuals and in individuals with genetic diagnoses, an
Autor:
Emily Gallant, Heather Fetting, Ian D. Krantz, Micah A. Berman, Dinah Clark, Heidi L. Rehm, Matthew A. Deardorff, Alisha Wilkens, Maninder Kaur, Ellen A. Tsai, Hakon Hakonarson, Yaru Zhao, Lauren J. Francey
Publikováno v:
American Journal of Medical Genetics Part A. 161:2148-2157
Hearing impairment affects 1 in 650 newborns, making it the most common congenital sensory impairment. Autosomal recessive nonsyndromic sensorineural hearing impairment (ARNSHI) comprises 80% of familial hearing impairment cases. Mutations in GJB2 ac
Autor:
Karl Degenhardt, Daniele Massera, Jonathan A. Epstein, Li Li, Jun Li, Peter J. Gruber, Ian D. Krantz, Connie Choi, Qiaohong Wang, Manvendra K. Singh, Haig Aghajanian, Lauren J. Francey, Amanda D. Yzaguirre, Emily Gallant
Publikováno v:
Nature Medicine. 19:760-765
Total anomalous pulmonary venous connection (TAPVC) is a potentially lethal congenital disorder that occurs when the pulmonary veins do not connect normally to the left atrium, allowing mixing of pulmonary and systemic blood1. In contrast to the exte
Autor:
Ian D. Krantz, Dinah Clark, Marcella Devoto, Maninder Kaur, Heather Fetting, Lauren J. Francey, Hakon Hakonarson, Emily Gallant
Publikováno v:
American journal of otolaryngology. 34(3)
This report describes a three generation family with late onset bilateral sensorineural hearing impairment (BLSNHI) and tinnitus in which a novel mutation in the COCH gene was identified after a genome-wide linkage approach. The COCH gene is one of t