Jornal de doenças genéticas e relatórios genéticos

Relato de caso

Cleidocranial Dysplasia in a Mother and her New-born Daughter

• Ma?gorzata Napieralska, Aleksandra Modlinska, Tomasz Rybkiewicz, Regina ?uralska

Relato de caso

Variation of Abnormal Hemoglobins Concentrated in Durg, Chhattisgarh: A Brief Note Based on Cross-Sectional Study

• Devendra Lingojwar, Pramod Gupta, Savita Bhutoria, Sarita Lingojwar, Nikhil Mishra, Anil Kumar

Relato de caso

Left Ventricular Noncompaction in Noonan Syndrome

• Robert B Hinton, Paula Goldenberg, Richard C Godby, Ashley Parrott, Amy G Shikany, Benjamin J Landis, Jeanne F James, Erin M Miller, Stephanie M Ware

Relato de caso

A Case of Wolf-Hirschhorn Syndrome and Familial Mediterranean Fever

• Kazuaki Matsumoto* and Masayasu Ohta

Artigo de Pesquisa

Mutational Analysis in Gaucher Disease: Implications in Genetic Counseling and Management.

• Inusha Panigrahi, Jaswinder Kalra, Prasoon Goyad, Preeti Khetarpal and Anjana Munshi