1. Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families. Issue 3 (2nd December 2022) Authors: Becker, Aurélie; Felici, Charlotte; Lambert, Laëtitia; de Saint Martin, Anne; Abi‐Warde, Marie‐Thérèse; Schaefer, Elise; Zix, Christian; Zamani, Mina; Sadeghian, Saeid; Zeighami, Jawaher; Seifi, Tahereh; Azizimalamiri, Reza; Shariati, Gholamreza; Galehdari, Hamid; Selig, Mareike; Ding, Can; Dueri... Journal: Clinical genetics Issue: Volume 103:Issue 3(2023) Page Start: 346 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia. Issue 5 (7th March 2020) Authors: Schönfeld, Mascha; Selig, Mareike; Russo, Alexandra; Lindner, Christine; Kampmann, Christoph; Mildenberger, Eva; Whybra, Catharina Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 5(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗