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Find Research Outputs S Class, A Americans, S Hyperparathyroidism, N Red | 118* | |
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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome PJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ... Genetics in Medicine 21 (6), 1295-1307, 2019 | 113 | 2019 |
De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability MJ Parker, AE Fryer, DJ Shears, KL Lachlan, SA McKee, AC Magee, ... American Journal of Medical Genetics Part A 167 (10), 2231-2237, 2015 | 109 | 2015 |
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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications KM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ... Brain 145 (9), 2991-3009, 2022 | 84 | 2022 |
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Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum M Smogavec, A Cleall, J Hoyer, D Lederer, MC Nassogne, EE Palmer, ... Journal of medical genetics 53 (12), 820-827, 2016 | 53 | 2016 |
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