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Reza Maroofian
University College London - London / United Kingdom
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 1338675
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Reza Maroofian's MOST POPULAR ARTICLES
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Homozygous mutations in CSF1R cause a pediatric-onset leukoencephalopathy and can result in congenital absence of microgliaN Oosterhof, IJ Chang, EG Karimiani, LE Kuil, DM Jensen, R Daza, ...The American Journal of Human Genetics 104 (5), 936-947, 20191442019
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersV Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...Nature communications 10 (1), 3094, 20191262019
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Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesisGV Harlalka, A Lehman, B Chioza, EL Baple, R Maroofian, H Cross, ...Brain 136 (12), 3618-3624, 20131232013
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Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continentsD Yan, D Tekin, G Bademci, J Foster, FB Cengiz, A Kannan-Sundhari, ...Human genetics 135, 953-961, 20161332016
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A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiencyS Volpi, MP Cicalese, P Tuijnenburg, ATJ Tool, E Cuadrado, ...Journal of Allergy and Clinical Immunology 143 (6), 2296-2299, 2019942019
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