Katherine C MacKenzie

Years Active: 2020-2021
Publications (10 Years): 2

This page only lists publications with an associated author ORCID identifier.

Publications

Laura E Kuil, Katherine C MacKenzie, Clara Sze Man Tang, Jonathan D Windster, Thuy Linh Le, Anwarul Karim, Bianca M de Graaf, Robert van der Helm, Yolande van Bever, Cornelius E J Sloots, Conny Meeussen, Dick Tibboel, Annelies de Klein, René M H Wijnen, Jeanne Amiel, Stanislas Lyonnet, Maria-Mercè Garcia-Barcelo, Paul K H Tam, Maria M Alves, Alice S Brooks, Robert M W Hofstra, Erwin Brosens
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development. PLoS genetics 17 (8) (2021)
Katherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, Yuying Zhao, Erwin Brosens, Grazia M S Mancini, Rachel Schot, Dicky Halley, Martina Wilke, Arve Vøllo, Frances Flinter, Andrew Green, Sahar Mansour, Jacek Pilch, Zornitza Stark, Eleni Zamba-Papanicolaou, Violetta Christophidou-Anastasiadou, Robert M W Hofstra, Jan D H Jongbloed, Nayia Nicolaou, George A Tanteles, Alice S Brooks, Maria M Alves
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP. Human mutation 41 (11) (2020)

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