Journal of Genetic Disorders

Relevant Topics

• Achondroplasia
• Chromosomal Aberrations
• Cystic fibrosis (CF)
• DNA Depurination
• Down syndrome (DS or DNS)
• Duchenne muscular dystrophy (DMD)
• Fragile X syndrome (FXS)
• Haemophilia
• Huntington′s disease (HD)
• Jackson-Weiss Syndrome
• Maple syrup urine disease (MSUD)
• Marfan syndrome
• Neurofibromatosis
• Pachyonychia Congenita (PC)
• Phenylketonuria
• Severe Combined Immunodeficiency (SCID)
• Sickle cell anemia
• Smith-Lemli-Opitz syndrome (SLOS)
• Thalassemia
• Turner syndrome
• WAGR syndrome
• Williams syndrome