Kennedy Krieger Institute

University / College


Location: Baltimore, United States (USA) (US) US

ISNI: 000000040427667X

ROR: https://ror.org/05q6tgt32

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss (2021) Richard EM, Bakhtiari S, Marsh AP, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, et al. Journal article Updated insight into the mutational and phenotypic spectrum of MED13L-related intellectual disability (2020) Asadollahi R, Boonsawat P, Popp B, Torti E, Bader I, Vitobello A, Moutton S, et al. Conference contribution De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019) Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, et al. Journal article Loss-of-function variants in HIVEP2 are a cause of intellectual disability (2016) Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, et al. Journal article WONOEP appraisal: new genetic approaches to study epilepsy (2014) Rossignol E, Kobow K, Simonato M, Loeb JA, Grisar T, Gilby KL, Vinet J, et al. Journal article Toward discovery science of human brain function (2010) Biswal BB, Mennes M, Zuo XN, Gohel S, Kelly C, Smith SM, Beckmann CF, et al. Journal article