International Publisher of Science, Technology and Medicine

Journal of Genetic Disorders & Genetic Reports

Current Issue

Volume 5, Issue 4
  • Research Article:  J Genet Disor Genet Rep, 5:4
    doi: 10.4172/2327-5790.1000142
    Chromosome 22q11.2 and 7q11.23 Microdeletions in Children with Congenital Heart Defects Detected by Fish Technique
    Mirea AM, Popp RA, Lazea C, Cuzmici Z, Al Khzouz C, Bucerzan S, Nascu, Man S, Iurian S, Miclea DL
    Abstract | Full-text | PDF |
  • Case Report:  J Genet Disor Genet Rep, 5:4
    doi: 10.4172/2327-5790.1000143
    Treatment with Agalsidase Alfa during Pregnancy in a Heterozygous Female with Fabry Disease
    Antonio Pisani, Giuseppe Bifulco, Attilio Di Spiezio Sardo and Eleonora Riccio
    Abstract | Full-text | PDF |
  • Research Article:  J Genet Disor Genet Rep, 5:4
    doi: 10.4172/2327-5790.1000144
    Screening of Genetic Mutations in GBA1, GIGYF2 and VPS35 in Parkinson Disease Patients from India
    Tamali Halder, Janak Raj, Sharad Pandey, Ajay Kumar, Sagar Kawale, Sandeep Chaudhary, Vivek Sharma, Deepika Joshi and Parimal Das
    Abstract | Full-text | PDF |
  • Case Report:  J Genet Disor Genet Rep, 5:4
    doi: 10.4172/2327-5790.1000145
    Smith-Magenis Syndrome Treated with Ramelteon and Amphetamine-dextroamphetamine: Case Report and Review of the Literature
    Baek WS, Elsea SH
    Abstract | Full-text | PDF |
  • Research Article:  J Genet Disor Genet Rep, 5:4
    doi: 10.4172/2327-5790.1000146
    Same Mutation in Two Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome) Coming from Different Municipalities in the Department of Cauca, Southwestern Colombia
    Acosta MA, Lago RM, Barros F and Carracedo AM
    Abstract | Full-text | PDF |
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