1. Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants. Issue 1 (31st December 2021) Authors: Kalfon, Limor; Baydany, Meirav; Samra, Nadra; Heno, Nawaf; Segal, Zvi; Eran, Ayelet; Yulevich, Alon; Fellig, Yakov; Mandel, Hanna; Falik‐Zaccai, Tzipora C. Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 1(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1. Issue 4 (24th August 2020) Authors: Brownstein, Zippora; Gulsuner, Suleyman; Walsh, Tom; Martins, Fábio T.A.; Taiber, Shahar; Isakov, Ofer; Lee, Ming K.; Bordeynik‐Cohen, Mor; Birkan, Maria; Chang, Weise; Casadei, Silvia; Danial‐Farran, Nada; Abu‐Rayyan, Amal; Carlson, Ryan; Kamal, Lara; Arnthórsson, Asgeir Ö.; Sokolov, Meirav; Gil... Journal: Clinical genetics Issue: Volume 98:Issue 4(2020) Page Start: 353 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗