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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 27, 2020
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunctionLisa Lenaerts, Sara Reynhout, Iris Verbinnen, et al.American Journal of Medical Genetics. Part A|December 27, 2019
Growth charts in Kabuki syndrome 1Valentin Ruault, Carole Corsini, Claire Duflos, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2016
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsLivia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2015
Treacher Collins syndrome: a clinical and molecular study based on a large series of patientsMarie Vincent, David Geneviève, Agnès Ostertag, et al.Journal of Medical Genetics|October 28, 2015
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementMegana K Prasad, Véronique Geoffroy, Serge Vicaire, et al.NPJ Genomic Medicine|December 22, 2017
A framework to identify contributing genes in patients with Phelan-McDermid syndromeAnne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.NPJ Genomic Medicine|July 10, 2019
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndromeAnne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.Clinical Genetics|March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disabilityP Callier, B Aral, N Hanna, et al.Journal of Medical Genetics|August 4, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variantsLaurence Pacot, Marinus Blok, Dominique Vidaud, et al.Pageof 89