PMC Links for OMIM (Select 601972) - PMC

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Items: 4

Select item 79936131.

A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits

Miguel Carneiro, Jennifer Vieillard, Pedro Andrade, Samuel Boucher, Sandra Afonso, José A. Blanco-Aguiar, Nuno Santos, João Branco, Pedro J. Esteves, Nuno Ferrand, Klas Kullander, Leif Andersson

PLoS Genet. 2021 Mar; 17(3): e1009429. Published online 2021 Mar 25. doi: 10.1371/journal.pgen.1009429

PMCID:: PMC7993613

Abstract Article PDF–3.0M

Select item 61598812.

The Steroid and Thyroid Hormone Receptor Superfamily

Ronald M. Evans

Science. Author manuscript; available in PMC 2018 Sep 27.

Published in final edited form as: Science. 1988 May 13; 240(4854): 889–895. doi: 10.1126/science.3283939

PMCID:: PMC6159881

Abstract Article PDF–827K

Select item 51179303.

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Gabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, Audrey Labalme, Manal Salmi, Iben Bache, Nadine Bruneau, Manuela Pendziwiat, Joel Fluss, Julitta de Bellescize, Julia Scholly, Rikke S Møller, Dana Craiu, Niels Tommerup, Maria Paola Valenti-Hirsch, Caroline Schluth-Bolard, Frédérique Sloan-Béna, Katherine L Helbig, Sarah Weckhuysen, Patrick Edery, Safia Coulbaut, Mohamed Abbas, Ingrid E Scheffer, Sha Tang, Candace T Myers, Hannah Stamberger, Gemma L Carvill, Deepali N Shinde, Heather C Mefford, Elena Neagu, Robert Huether, Hsiao-Mei Lu, Alice Dica, Julie S Cohen, Catrinel Iliescu, Cristina Pomeran, James Rubenstein, Ingo Helbig, Damien Sanlaville, Edouard Hirsch, Pierre Szepetowski

Eur J Hum Genet. 2016 Dec; 24(12): 1761–1770. Published online 2016 Jun 29. doi: 10.1038/ejhg.2016.80