Role of CAMK2D in neurodevelopment and associated conditions

Source
The American journal of human genetics - ISSN 0002-9297-111:2 (2024) p. 1-20
Author(s)
    Pomme M.F. Rigter, Charlotte de Konink, Matthew J. Dunn, Martina Proietti Onori, Jennifer B. Humberson, Matthew Thomas, Caitlin Barnes, Carlos E. Prada, K. Nicole Weaver, Thomas D. Ryan, Oana Caluseriu, Jennifer Conway, Emily Calamaro, Chin-To Fong, Wim Wuyts, Marije Meuwissen, Eva Hordijk, Carsten N. Jonkers, Lucas Anderson, Berfin Yuseinova, Sarah Polonia, Diane Beysen, Zornitza Stark, Elena Savva, Cathryn Poulton, Fiona McKenzie, Elizabeth Bhoj, Caleb P. Bupp, Stephane Bezieau, Sandra Mercier, Amy Blevins, Ingrid M. Wentzensen, Fan Xia, Jill A. Rosenfeld, Tzung-Chien Hsieh, Peter M. Krawitz, Miriam Elbracht, Danielle C.M. Veenma, Howard Schulman, Margaret M. Stratton, Sebastien Kury, Geeske M. van Woerden

RUNX2-related metaphyseal dysplasia with maxillary hypoplasia : a rare skeletal disorder resembling SFRP4-related Pyle disease

Source
Clinical genetics - ISSN 0009-9163-105:4 (2024) p. 434-439
Author(s)
    Ewa Hordyjewska-Kowalczyk, Wim Wuyts, Nele Boeckx, An Verdonck, Gretl Hendrickx, Geert Mortier

Negative molecular diagnostics in non-syndromic hearing loss : what next?

Source
Genes - ISSN 2073-4425-14:1 (2023) p. 1-15
Author(s)