Maian Roifman

Years Active: 2020-2022
Publications (10 Years): 2

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

Publications

Maian Roifman, Brian Hon-Yin Chung, Diane Myles Reid, Ronni Teitelbaum, Nicole Martin, Lynne E Nield, Megan Thompson, Patrick Shannon, David Chitayat
Heterozygous NOTCH1 deletion associated with variable congenital heart defects. Clinical genetics 99 (6) (2022)
Maian Roifman, Kirsten M Niles, Lauren MacNeil, Susan Blaser, Abdul Noor, Ruth Godoy, Tim van Mieghem, Greg Ryan, Gareth Seaward, Neal Sondheimer, Saadet Mercimek-Andrews, Andreas Schulze, Stacy Hewson, Adi Ovadia, David Chitayat, Eric K Morgen, Carlo Hojilla, Elena Kolomietz, Nicholas Watkins, Johannes Häberle, Patrick Shannon
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency. Clinical genetics 98 (6) (2020)

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