Jornal de doenças genéticas e relatórios genéticos

Artigo de Pesquisa

The Prevalence of Three Common MEFV Gene Mutations in West Bank Population among Students of Najah National University, Palestine

• Tanbour RG, Sawafta TS and Basha WS

Relato de caso

Rare Unusual Coincidence of Leri–Weill Dyschondrosteosis Resulting from a Downstream Enhancer Deletion of SHOX Gene and Neurofibromatosis Type 1

• Peleg A, Adir V, Larom-Khan G, Harari Shaham A and Sagi-Dain L

Artigo de Pesquisa

Intergenerational De Novo Spinocerebellar Ataxia 7 CAG Enlargement in a Moroccan Family Detected by Triplet Primed PCR

• Martínez-Laso J, Giménez-Pardo A Jimenez E, Gallego J, Cervera I, Ayuso C, Lorda I and Trujillo-Tiebas MJ

Comentário

The Interpretation of Genetic Data - Considering the Effect of Changes to Gene Conformation - If the Facts Don’t Support the Theory, Change the Theory – How Does This Contribute to Understanding Diabetes?

• Ewing GW