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The Clinical Neuropsychologist|April 28, 2022
Structural and pragmatic language in young children with sex chromosome trisomy (XXX, XXY, XYY): Predictive value for neurobehavioral problems one year laterEvelien Urbanus, Hanna Swaab, Nicole Tartaglia, et al.
Clinical Case Reports|August 8, 2017
A novel mutation in L1CAM causes a mild form of L1 syndrome: a case reportMaarten Otter, Marijke Wevers, Marline Pisters, et al.
American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
Clinical Genetics|April 9, 2020
Primrose syndrome: Characterization of the phenotype in 42 patientsDaniela Melis, Daniel Carvalho, Tina Barbaro-Dieber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation studyLucy Loong, Agostina Tardivo, Alexej Knaus, et al.
American Journal of Human Genetics|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.
American Journal of Medical Genetics. Part A|September 21, 2016
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutationsPatricia Fergelot, Martine Van Belzen, Julien Van Gils, et al.
Annals of Neurology|October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypesMaureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.
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