Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Anna Essendrup"'
Autor:
Anna Essendrup, Sarah Brunker, Marissa Ellingson, Jessica Bortnova, Kyle Salsbery, Linda Hasadsri, Zhiyv Niu
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101811- (2024)
Externí odkaz:
https://doaj.org/article/7463f03148e5463fb4d0b71a1d386c08
Autor:
Cinthya J. Zepeda‐Mendoza, Anna Essendrup, Stephanie A. Smoley, Sarah H. Johnson, Nicole L Hoppman, George Vasmatzis, Daniel L. Jackson, Hutton M. Kearney, Linda B. Baughn
Publikováno v:
Clinical Case Reports, Vol 9, Iss 2, Pp 769-774 (2021)
Abstract This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.
Externí odkaz:
https://doaj.org/article/b75342e9196e4580a66a44c90a6d35e5
Publikováno v:
Journal of Genetic Counseling. 30:1428-1439
Career shadowing can be a valuable opportunity for individuals to experience the daily activities of a working professional. However, there is no published research regarding the impact of shadowing for individuals hoping to pursue a career as a gene
Autor:
Linda B. Baughn, Anna Essendrup, Cinthya J. Zepeda-Mendoza, Hutton M. Kearney, Daniel L. Jackson, Nicole L. Hoppman, George Vasmatzis, Stephanie A. Smoley, Sarah Johnson
Publikováno v:
Clinical Case Reports, Vol 9, Iss 2, Pp 769-774 (2021)
Clinical Case Reports
Clinical Case Reports
This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.
Autor:
Lauren Choate, Kyle Salsbery, Katrina Kotzer, Anna Essendrup, Kandelaria Rumilla, Nicole Boczek, Linda Hasadsri, Hutton Kearney, Chen Wang, Ann Moyer, Linnea Baudhuin, Zhiyv Niu
Publikováno v:
Genetics in Medicine. 24:S268
Autor:
George Vasmatzis, Stephanie A. Smoley, Cinthya J. Zepeda-Mendoza, Hutton M. Kearney, Anna Essendrup, Linda B. Baughn, Daniel L. Jackson, Nicole L. Hoppman, Sarah Johnson
A fetus harboring a duplication of SMAD2 exons 1-6 presented with dextrocardia and pulmonary hypoplasia. Mate-pair sequencing revealed the duplication to be in inverted tandem orientation to the wild-type SMAD2 allele, disrupting its sequence and dec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::420d9d304a8fa437b28f839c5665f669
https://doi.org/10.22541/au.160157600.00947118
https://doi.org/10.22541/au.160157600.00947118
Autor:
Beth A. Pitel, Bill Sukov, Erik C. Thorland, Robert B. Jenkins, Matt Webley, Patricia T. Greipp, Hutton M. Kearney, Sarah J. Koon, George Vasmatzis, Stephanie A. Smoley, Ross A. Rowsey, Nicole L. Hoppman, Cinthya Zepeda Mendoza, Anna Essendrup, Sarah H. Johnson, Linda B. Baughn, Joe Blommel, Elyse Mitchell, Rhett P. Ketterling
Publikováno v:
Cancer Genetics. :54-55
Autor:
Hutton M. Kearney, Binu Porath, Daniel E. Jackson, Sarah H. Johnson, Linda B. Baughn, Anna Essendrup, George Vasmatzis, Stephanie A. Smoley
Publikováno v:
Cancer Genetics. 209:296-297