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Brain : a Journal of Neurology|October 16, 2004
The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomyCaroline J Moore, Eileen M Daly, Flora Tassone, et al.Journal of Molecular Medicine (Berlin, Germany)|June 14, 2015
Functional and in silico assessment of MAX variants of unknown significanceIñaki Comino-Méndez, Luis J Leandro-García, Guillermo Montoya, et al.American Journal of Human Genetics|February 1, 2020
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial MetabolismAdam C Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, et al.Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotoniaAlison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, et al.Pageof 2