Jornal de doenças genéticas e relatórios genéticos

Artigo de Pesquisa

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

Artigo de Pesquisa

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

Relato de caso

Smith-Magenis Syndrome Treated with Ramelteon and Amphetamine-dextroamphetamine: Case Report and Review of the Literature

• Baek WS, Elsea SH

Artigo de Pesquisa

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

Relato de caso

Treatment with Agalsidase Alfa during Pregnancy in a Heterozygous Female with Fabry Disease

• Antonio Pisani, Giuseppe Bifulco, Attilio Di Spiezio Sardo and Eleonora Riccio