Search Results - Alice Colyer

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    A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

    A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome by Sara Cuvertino, Verity Hartill, Alice Colyer, Terence Garner, Nisha Nair, Lihadh Al‐Gazali, Natalie Canham, Víctor Faúndes, Frances Flinter, Jozef Hertecant, Muriel Holder‐Espinasse, Brian R. Jackson, Sally Ann Lynch, Fatima Nadat, Vagheesh M. Narasimhan, Michelle Peckham, Robert Sellers, Marco Seri, Francesca Montanari, Laura Southgate, Gabriella Maria Squeo, Richard C. Trembath, David A. van Heel, Santina Venuto, Daniel Weisberg, Karen Stals, Sian Ellard, Anne Barton, Susan J. Kimber, Eamonn Sheridan, Giuseppe Merla, Adam Stevens, Colin A. Johnson, Siddharth Banka

    Published 2020
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