DOI: 10.1055/s-00046370

Global Medical Genetics

Issue 03 · Volume 09 · September 2022 DOI: 10.1055/s-012-54310

Original Article

200
Eker, Damla; Gurkan, Hakan; Karal, Yasemin; Yalcintepe, Sinem; Demir, Selma; Atli, Engin; Karasalihoglu, Serap T.: Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method
226
Zhuri, Drenushe; Gurkan, Hakan; Eker, Damla; Karal, Yasemin; Yalcintepe, Sinem; Atli, Engin; Demir, Selma; Atli, Emine Ikbal: Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype

Case Report

214
Di Nora, Alessandra; De Costa, Greta; Di Mari, Alessia; Montemagno, Marco; Pavone, Vito; Pavone, Piero: A New 12q21 Deletion Syndrome: A Case Report and Literature Review
247
Pappalardo, Maria Grazia; Di Nora, Alessandra; Giugno, Andrea; Meli, Concetta; Sapuppo, Annamaria; Pavone, Piero; Fiumara, Agata: Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl

Review Article

Rapid Communication

252
Ergoren, Mahmut Cerkez; Tuncel, Gulten; Ozverel, Cenk Serhan; Sanlidag, Tamer: Designing In-House SARS-CoV-2 RT-qPCR Assay for Variant of Concerns