Sheldon-Hall syndrome

por Toydemir, Reha M, Bamshad, Michael J
Publicado 2009

Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome

por Rossi, Cesare, Ramadan, Sherin, Evangelisti, Cecilia, Ferrari, Simona, Accadia, Maria, Toydemir, Reha M., Panza, Emanuele
Publicado 2023

Characterizing Atypical BCL6 Signal Patterns Detected by Digital Fluorescence In Situ Hybridization (FISH) Analysis

por Liew, Michael, Rowe, Leslie R., Szankasi, Phillipe, Paxton, Christian N., Kelley, Todd, Toydemir, Reha M., Salama, Mohamed E.
Publicado 2018

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

por Nicholas, Thomas J., Al‐Sweel, Najla, Farrell, Andrew, Mao, Rong, Bayrak‐Toydemir, Pinar, Miller, Christine E., Bentley, Dawn, Palmquist, Rachel, Moore, Barry, Hernandez, Edgar J., Cormier, Michael J., Fredrickson, Eric, Noble, Katherine, Rynearson, Shawn, Holt, Carson, Karren, Mary Anne, Bonkowsky, Joshua L., Tristani‐Firouzi, Martin, Yandell, Mark, Marth, Gabor, Quinlan, Aaron R., Brunelli, Luca, Toydemir, Reha M., Shayota, Brian J., Carey, John C., Boyden, Steven E., Malone Jenkins, Sabrina
Publicado 2022