Ehsan Ghayoor Karimiani

Ehsan Ghayoor Karimiani

Saint George's University of London - London / United Kingdom
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 1353378
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person_outline Ehsan Ghayoor Karimiani's MOST POPULAR ARTICLES
1-) 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
2-) 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, 20191602019
3-) 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, 2019792019
4-) Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndromeSG Ghosh, K Becker, H Huang, T Dixon-Salazar, G Chai, V Salpietro, ...The American Journal of Human Genetics 103 (3), 431-439, 2018882018
5-) Biallelic variants in KIF14 cause intellectual disability with microcephalyP Makrythanasis, R Maroofian, A Stray-Pedersen, D Musaev, MS Zaki, ...European journal of human genetics 26 (3), 330-339, 2018702018