Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing von Maranhao, Bruno, Biswas, Pooja, Gottsch, Alexander D H, Navani, Mili, Naeem, Muhammad Asif, Suk, John, Chu, Justin, Khan, Sheen N, Poleman, Rachel, Akram, Javed, Riazuddin, Sheikh, Lee, Pauline, Riazuddin, S Amer, Hejtmancik, J Fielding, Ayyagari, Radha

Volltext

Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss von Alapati, Akhila, Goetz, Kerry, Suk, John, Navani, Mili, Al-Tarouti, Amani, Jayasundera, Thiran, Tumminia, Santa J, Lee, Pauline, Ayyagari, Radha

Volltext

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association von Biswas, Pooja, Duncan, Jacque L, Maranhao, Bruno, Kozak, Igor, Branham, Kari, Gabriel, Luis, Lin, Jonathan H, Barteselli, Giulio, Navani, Mili, Suk, John, Parke, Michelle, Schlechter, Catherine, Weleber, Richard G, Heckenlively, John R, Dagnelie, Gislin, Lee, Pauline, Riazuddin, S Amer, Ayyagari, Radha

Volltext

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing: e0136561 von Maranhao, Bruno, Biswas, Pooja, Gottsch, Alexander DH, Navani, Mili, Naeem, Muhammad Asif, Suk, John, Chu, Justin, Khan, Sheen N, Poleman, Rachel, Akram, Javed

Volltext

Identification of a Novel Mutation in the CDHR1 Gene in a Family With Recessive Retinal Degeneration von Duncan, Jacque L, Roorda, Austin, Navani, Mili, Vishweswaraiah, Sangeetha, Syed, Reema, Soudry, Shiri, Ratnam, Kavitha, Gudiseva, Harini V, Lee, Pauline, Gaasterland, Terry, Ayyagari, Radha

Volltext