Bita Bozorgmehr

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Jan Senderek, Juliane Müller, Marina Dusl et al. · The American Journal of Human Genetics · 2011 · 173 citations · Full text

Medicine, Genetics, Neuroscience +10

Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder

Fransiska Malfait, Ariana Kariminejad, Tim Van Damme et al. · The American Journal of Human Genetics · 2013 · 140 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Velina Guergueltcheva, Juliane Müller, Marina Dusl et al. · Journal of Neurology · 2011 · 98 citations

Medicine, Genetics, Molecular Genetics +7

Defect in proline synthesis: pyrroline‐5‐carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

Rita Kretz, Bita Bozorgmehr, Mohamad Hasan Kariminejad et al. · Journal of Inherited Metabolic Disease · 2011 · 31 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Retinitis Pigmentosa, Cutis Laxa, and Pseudoxanthoma Elasticum–Like Skin Manifestations Associated with GGCX Mutations

Ariana Kariminejad, Bita Bozorgmehr, Abdolhamid Najafi et al. · Journal of Investigative Dermatology · 2014 · 24 citations · Full text

Medicine, Dermatology, Genetics +16