Dmitriy Niyazov

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Marcello Niceta, Emilia Stellacci, Karen W. Gripp et al. · The American Journal of Human Genetics · 2015 · 117 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization

Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader et al. · American Journal of Medical Genetics Part A · 2013 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Diagnosis of Endolymphatic Hydrops In Vivo with Magnetic Resonance Imaging

Dmitriy Niyazov, James C. Andrews, D. Strelioff et al. · Otology & Neurotology · 2001 · 75 citations

Medicine, Otolaryngology, Diagnostic Imaging +14

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)

Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson et al. · Neurology Genetics · 2018 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease

Zoheb B. Kazi, Ankit K. Desai, R. Bradley Troxler et al. · Genetics in Medicine · 2018 · 34 citations · Full text

Life Sciences, Immunology, Pharmacotherapy +13