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Pediatric Neurology|August 12, 2009
Neurologic aspects of MECP2 gene duplication in male patientsBernard Echenne, Agathe Roubertie, Dorien Lugtenberg, et al.European Journal of Human Genetics : EJHG|May 27, 2021
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACACenna Doornbos, Ronald van Beek, Ernie M H F Bongers, et al.American Journal of Human Genetics|August 5, 2005
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in malesHilde Van Esch, Marijke Bauters, Jaakko Ignatius, et al.Cilia|November 28, 2018
Cellular ciliary phenotyping indicates pathogenicity of novel variants in <i>IFT140</i> and confirms a Mainzer-Saldino syndrome diagnosisMachteld M Oud, Brooke L Latour, Zeineb Bakey, et al.Genome Research|November 23, 2017
<i>ABCA4</i> midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt diseaseRiccardo Sangermano, Mubeen Khan, Stéphanie S Cornelis, et al.Journal of the American Society of Nephrology : JASN|July 5, 2017
A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with <i>CLDN10</i> MutationsErnie M H F Bongers, Luke M Shelton, Susanne Milatz, et al.European Journal of Human Genetics : EJHG|June 30, 2011
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysisIlse Feenstra, Nicolien Hanemaaijer, Birgit Sikkema-Raddatz, et al.Kidney Medicine|March 17, 2023
Kidney Disease Associated With Mono-allelic <i>COL4A3</i> and <i>COL4A4</i> Variants: A Case Series of 17 FamiliesSander Groen In 't Woud, Ilse M Rood, Eric Steenbergen, et al.Human Mutation|May 13, 2008
Genotype-phenotype correlations in MYCN-related Feingold syndromeCarlo L M Marcelis, Frans A Hol, Gail E Graham, et al.Journal of Medical Genetics|February 28, 2012
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defectsMarjolein H Willemsen, Lisenka E L Vissers, Michèl A A P Willemsen, et al.Pageof 4