Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects

Autor: AlAbdi, L., Desbois, M., Rusnac, D.V., Sulaiman, R.A., Rosenfeld, J.A., Lalani, S., Murdock, D.R., Burrage, L.C., Undiagnosed Diseases Network, Billie Au, P.Y., Towner, S., Wilson, W.G., Wong, L., Brunet, T., Strobl-Wildemann, G., Burton, J.E., Hoganson, G., McWalter, K., Begtrup, A., Zarate, Y.A., Christensen, E.L., Opperman, K.J., Giles, A.C., Helaby, R., Kania, A., Zheng, N., Grill, B., Alkuraya, F.S.

Publikováno v: Brain, DOI: 10.1093/brain/awac364 (2022)

The corpus callosum is a bundle of axon fibres that connects the two hemispheres of the brain. Neurodevelopmental disorders that feature dysgenesis of the corpus callosum as a core phenotype offer a valuable window into pathology derived from abnorma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e781ace9ee46e63ab2e35902c943990f
https://pubmed.ncbi.nlm.nih.gov/36200388

Assessing Investor Misconduct In Mining Disputes – Legality Requirements, Clean Hands, and Contributory Fault

Autor: Fahner, J.H., Kent, C.H., Lalani, S., Petrochilos, G., Ziegler, A.R.

Publikováno v: Social License and Dispute Resolution in the Extractive Industries, 50-81
STARTPAGE=50;ENDPAGE=81;TITLE=Social License and Dispute Resolution in the Extractive Industries

Mining projects are generally large-scale transnational investments, prone to cause conflict between investors, host State regulators, local communities, and environmental organisations. For that reason, mining companies are regular claimants in inve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::d8def4a4462508979a091609ea4fc5f7
https://dare.uva.nl/personal/pure/en/publications/assessing-investor-misconduct-in-mining-disputes--legality-requirements-clean-hands-and-contributory-fault(155a0615-92b9-476f-b18a-88a7866db4d6).html

Correction to ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

Autor: Carapito, R. (Raphaël), Ivanova, E. (Ekaterina), Morlon, A. (Aurore), Meng, L. (Linyan), Molitor, A. (Anne), Erdmann, E. (Eva), Kieffer, B. (Bruno), Pichot, A. (Angélique), Naegely, L. (Lydie), Kolmer, A. (Aline), Paul, N. (Nicodème), Hanauer, A. (Antoine), Tran Mau-Them, F. (Frédéric), Jean-Marçais, N. (Nolwenn), Hiatt, S. (Susan), Cooper, G. (Gregory), Tvrdik, T. (Tatiana), Muir, A. (Alison), Dimartino, C. (Clémantine), Chopra, M. (Maya), Amiel, J. (Jeanne), Gordon, C. (Christopher), Dutreux, F. (Fabien), Garde, A. (Aurore), Thauvin-Robinet, C. (Christel), Wang, X. (Xia), Leduc, M. (Magalie), Phillips, M. (Meredith), Crawford, H. (Heather), Kukolich, M. (Mary), Hunt, D. (David), Harrison, V. (Victoria), Kharbanda, M. (Mira), Smigiel, R. (Robert), Gold, N. (Nina), Hung, C. (Christina), Viskochil, D. (David), Dugan, S. (Sarah), Bayrak-Toydemir, P. (Pinar), Joly-Helas, G. (Géraldine), Guerrot, A. (Anne-Marie), Schluth-Bolard, C. (Caroline), Rio, M. (Marlène), Wentzensen, Ingrid M., McWalter, K. (Kirsty), Schnur, R. (Rhonda), Lewis, A. (Andrea), Lalani, S. (Seema), Mensah-Bonsu, N. (Noël), Céraline, J. (Jocelyn), Sun, Z. (Zijie), Ploski, R. (Rafal), Bacino, C. (Carlos), Mefford, H. (Heather), Faivre, L. (Laurence), Bodamer, O. (Olaf), Chelly, J. (Jamel), Isidor, B. (Bertrand), Bahram, S. (Seiamak)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4060::c3c64080c6a722d41a512a8e66c1d3da
https://linkinghub.elsevier.com/retrieve/pii/S0002929719304355

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