JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Source
Genetics in medicine - ISSN 1098-3600-23:2 (2021) p. 374-383
Author(s)
    Eline A. Verberne, Shuxiang Goh, Jade England, Manon van Ginkel, Louise Rafael-Croes, Saskia Maas, Abeltje Polstra, Yuri A. Zarate, Katherine A. Bosanko, Kieran B. Pechter, Emma Bedoukian, Kosuke Izumi, Ayeshah Chaudhry, Nathaniel H. Robin, Megan Boothe, Natalie C. Lippa, Vimla Aggarwal, Darryl C. De Vivo, Anna Lehman, Causes Study, Sylvia Stockler, Ange-Line Bruel, Bertrand Isidor, Jennifer Lemons, David F. Rodriguez-Buritica, Christopher M. Richmond, Zornitza Stark, Pankaj B. Agrawal, Frank Kooy, Marije Meuwissen, David A. Koolen, Rolf Pfundt, Agne Lieden, Britt-Marie Anderlid, Dagmar Glatz, Marcel M.A.M. Mannens, Madhura Bakshi, Frédérick A. Mallette, Mieke M. van Haelst, Philippe M. Campeau

Defining the phenotypical spectrum associated with variants in TUBB2A

Source
Journal of medical genetics - ISSN 0022-2593-58:1 (2021) p. 33-40
Author(s)
    Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Régal, Romina Romaniello, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, Alma Kuechler, Ingeborg Krägeloh-Mann, Tobias B. Haack, Esmee Kasteleijn, Rachel Schot, Grazia Maria Simonetta Mancini, Richard Webster, Shekeeb Mohammad, Richard J. Leventer, Ghayda Mirzaa, William B Dobyns, Nadia Bahi-Buisson, Marije Meuwissen, Anna C. Jansen, Katrien Stouffs

The resting membrane potential of hSC-CM in a syncytium is more hyperpolarised than that of isolated cells

Source
Channels - ISSN 1933-6950-15:1 (2021) p. 239-252
Author(s)

Belgian rare diseases plan in clinical pathology : identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions

Source
Orphanet journal of rare diseases - ISSN 1750-1172-16:1 (2021) p.
Author(s)
    Nathalie M. Vandevelde, Pieter Vermeersch, Katrien M.J. Devreese, Marie-Francoise Vincent, Beatrice Gulbis, François Eyskens, Francois Boemer, Andre Gothot, Viviane Van Hoof, Carolien Bonroy, Hedwig Stepman, Geert A. Martens, Xavier Bossuyt, Laurence Roosens, Julie Smet, Hilde Laeremans, Ilse Weets, Jean-Marc Minon, Kris Vernelen, Wim Coucke