DOI: 10.1055/s-00046370

Global Medical Genetics

Issue 02 · Volume 10 · June 2023 DOI: 10.1055/s-013-57344

Review Article

101
Michas, Athanasios; Michas, Basileios; Tsitsibis, Anastasios; Tsoukalas, Nikolaos: Molecular Screening for Urothelial Cancer: How Close We Are?

Research Article

Original Article

063
Pomarino, David; Emelina, Anna; Heidrich, Jens; Rostásy, Kevin; Schirmer, Svenja; Schönfeldt, Jan O.; Thren, Anneke; Wagner, Ferdinand; Thren, Johanna Ronja; Berger, Nina: NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly
117
Yalcintepe, Sinem; Karal, Yasemin; Demir, Selma; Atli, Emine Ikbal; Atli, Engin; Eker, Damla; Mail, Cisem; Zhuri, Drenushe; Guler, Hazal Sezginer; Gurkan, Hakan: The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method

Review

Case Report

105
Sreedevi, N.; Swapna, N.; Maruthy, Santosh; Meghavathi, H.S.; Sylvester, Charles: PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India

Original Research Article

Short Communication