Jornal de doenças genéticas e relatórios genéticos

Artigo de Pesquisa

Cerebrovascular and Brain Abnormalities in Autosomal- Dominant Polycystic Kidney Disease: Role of 3d Time-of-Flight Magnetic Resonance Angiography

• Carmela Russo, Ferdinando Caranci, Massimo Imbriaco, Manuela Napoli, Antonio Pisani, Eleonora Riccio, Michele Santangelo, Sirio Cocozza, Enrico Tedeschi, Francesco Briganti and Arturo Brunetti

Artigo de Pesquisa

Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis

• Carolyn M Yrigollen, Laura Pacini, Veronica Nobile, Reymundo Lozano, Randi J Hagerman, Claudia Bagni and Flora Tassone

Artigo de Pesquisa

Genotype and Allele Frequencies of Calcium-Sensing Receptor Gene a986s (rs1801725) Polymorphism in Saudi Adults

• Sonbol HS and Al Otaibi WF

Relato de caso

Inherited Unbalanced Chromosome from Parent with Balanced Translocation: A Case Report and Review of Literature

• Kumari P, Mishra VV and Tewari S

Relato de caso

Homozygous Point Mutation in a Patient with Spinal Muscular Atrophy Type 1

• Isa Abdi Rad, Ali Vahabi and Ahad Ghazavi