International Publisher of Science, Technology and Medicine

Journal of Genetic Disorders & Genetic Reports

Previous Issue

Volume 5, Issue 3
  • Case Report:  J Genet Disor Genet Rep 2016, 5:3
    doi: 10.4172/2327-5790.1000137
    Homozygous Point Mutation in a Patient with Spinal Muscular Atrophy Type 1
    Isa Abdi Rad, Ali Vahabi and Ahad Ghazavi
    Abstract | Full-text | PDF |
  • Case Report:  J Genet Disor Genet Rep 2016, 5:3
    doi: 10.4172/2327-5790.1000138
    Inherited Unbalanced Chromosome from Parent with Balanced Translocation: A Case Report and Review of Literature
    Kumari P, Mishra VV and Tewari S
    Abstract | Full-text | PDF |
  • Research Article:  J Genet Disor Genet Rep 2016, 5:3
    doi: 10.4172/2327-5790.1000139
    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
    Abstract | Full-text | PDF |
  • Research Article:  J Genet Disor Genet Rep 2016, 5:3
    doi: 10.4172/2327-5790.1000140
    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
    Abstract | Full-text | PDF |
  • Research Article:  J Genet Disor Genet Rep 2016, 5:3
    doi: 10.4172/2327-5790.1000141
    Genotype and Allele Frequencies of Calcium-Sensing Receptor Gene a986s (rs1801725) Polymorphism in Saudi Adults
    Sonbol HS and Al Otaibi WF
    Abstract | Full-text | PDF |
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