Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Rebecca Sheedy Smith"'
Autor:
Michelle Kowanda, Rebecca Sheedy Smith, Jamie Lundy, Catherine Kentros, Elisheva Kleinman, Lauren Kasparson Walsh, Gerhard Schratt, Cora M. Taylor, Wendy K. Chung
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101845- (2024)
Purpose: Limited knowledge about disease mechanisms, few published cases, and the lack of functional assessment of variants for neurodevelopmental genetic disorders challenge diagnostic classification for variants and increase the frequency of varian
Externí odkaz:
https://doaj.org/article/56d3545fc21f43c5929de1bc244b9594
Autor:
Michelle Kowanda, Rebecca Sheedy Smith, Jamie Lundy, Catherine Kentros, Elisheva Kleinman, Lauren Kasparson Walsh, Gerhard Schratt, Cora Taylor, Wendy Chung
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101518- (2024)
Externí odkaz:
https://doaj.org/article/570f11715d344aaa950ecaa728751034