Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

by Ibrahim Sandokji, Jonathan Marquez, Weizhen Ji, Cynthia A. Zerillo, Monica Konstantino, Saquib A. Lakhani, Mustafa K. Khokha, Jillian K. Warejko
Published 2019-07-01

Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation

by Carole Le Coz, Brian E. Nolan, Melissa Trofa, Alicia M. Kamsheh, Mustafa K. Khokha, Mustafa K. Khokha, Mustafa K. Khokha, Saquib A. Lakhani, Saquib A. Lakhani, Antonio Novelli, Elaine H. Zackai, Elaine H. Zackai, Kathleen E. Sullivan, Kathleen E. Sullivan, Silvana Briuglia, Tricia R. Bhatti, Tricia R. Bhatti, Neil Romberg, Neil Romberg
Published 2018-07-01

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

by Maicon Landim-Vieira, Jamie R. Johnston, Weizhen Ji, Emily K. Mis, Joshua Tijerino, Michele Spencer-Manzon, Michele Spencer-Manzon, Lauren Jeffries, E. Kevin Hall, David Panisello-Manterola, Mustafa K. Khokha, Mustafa K. Khokha, Engin Deniz, P. Bryant Chase, Saquib A. Lakhani, Jose Renato Pinto
Published 2020-01-01