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Items: 4

Select item 72122591.

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

Alison M. Muir, Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed, Dan Doherty, Danielle DeMarzo, Christina R. Fagerberg, Lars Kjærsgaard, Martin J. Larsen, Patrick Rump, Katharina Löhner, Yoel Hirsch, David A. Zeevi, Elaine H. Zackai, Elizabeth Bhoj, Yuanquan Song, Heather C. Mefford

Am J Hum Genet. 2020 May 7; 106(5): 623–631. Published online 2020 Apr 9. doi: 10.1016/j.ajhg.2020.03.009

PMCID:: PMC7212259

Abstract Article PDF–1.2M

Select item 48117322.

Mutations in nuclear pore genes NUP93, NUP205, and XPO5 cause steroid resistant nephrotic syndrome

Daniela A. Braun, Carolin E. Sadowski, Stefan Kohl, Svjetlana Lovric, Susanne A. Astrinidis, Werner L. Pabst, Heon Yung Gee, Shazia Ashraf, Jennifer A. Lawson, Shirlee Shril, Merlin Airik, Weizhen Tan, David Schapiro, Jia Rao, Won-Il Choi, Tobias Hermle, Markus J. Kemper, Martin Pohl, Fatih Ozaltin, Martin Konrad, Radovan Bogdanovic, Rainer Büscher, Udo Helmchen, Erkin Serdaroglu, Richard P. Lifton, Wolfram Antonin, Friedhelm Hildebrandt

Nat Genet. Author manuscript; available in PMC 2016 Aug 15.

Published in final edited form as: Nat Genet. 2016 Apr; 48(4): 457–465. Published online 2016 Feb 15. doi: 10.1038/ng.3512