遗传疾病和遗传报告杂志

研究文章

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

研究文章

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

研究文章

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

• Sonbol HS and Al Otaibi WF

案例报告

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

• Kumari P, Mishra VV and Tewari S

案例报告

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

• Isa Abdi Rad, Ali Vahabi and Ahad Ghazavi