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Neuromuscular Disorders : NMD|September 2, 2006
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutationAdele D'Amico, Claudio Graziano, Giuseppe Pacileo, et al.
American Journal of Human Genetics|January 22, 2019
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild DysmorphismAsh Zawerton, Baojin Yao, J Paige Yeager, et al.
Sleep Medicine|July 10, 2019
Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic studyVeronica Di Pisa, Federica Provini, Sara Ubertiello, et al.
Human Mutation|June 30, 2009
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1)Nigel G Laing, Danielle E Dye, Carina Wallgren-Pettersson, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 29, 2014
Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathyGianluca Caridi, Francesca Lugani, Monica Dagnino, et al.
Gene|January 20, 2015
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variantClaudio Graziano, Anita Wischmeijer, Tommaso Pippucci, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|February 21, 2024
Magnetic resonance imaging scoring system of the lower limbs in adult patients with suspected idiopathic inflammatory myopathyLaura Ludovica Gramegna, Rita Rinaldi, Laura Maria Beatrice Belotti, et al.
Genes, Chromosomes & Cancer|August 24, 2021
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type IMatteo Riva, Davide Martorana, Vera Uliana, et al.
Genome Research|June 16, 2022
<i>HDAC9</i> structural variants disrupting <i>TWIST1</i> transcriptional regulation lead to craniofacial and limb malformationsNaama Hirsch, Idit Dahan, Eva D'haene, et al.
Molecular Cytogenetics|January 22, 2015
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disabilityAnna A Kashevarova, Lyudmila P Nazarenko, Soren Schultz-Pedersen, et al.
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