Background Parent/patient-reported (PRD) datasets provide ready access to phenotypic data for monogenic neurodevelopmental disorders, yet their concordance with clinical data is unclear. Methods In ...
Background Chromosome 19 is the most gene-dense chromosome in the human genome, with a high frequency of segmental duplications that predispose it to genomic rearrangements. While deletions of ...
Original research: Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome (13 November, 2025) ...
Angelman syndrome ( AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a ...
56 CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain 57 Unité de Neurophysiologie Clinique, Centre ...
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Professor G Moore, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK; gmoore{at}ich.ucl.ac.uk Silver–Russell syndrome (SRS MIM180860) is a disorder ...
9 Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA 10 Department of Internal Medicine, University of Texas Medical School at Houston, ...
Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a ...
1 Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands 2 Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands 3 Department of ...
1 University of Padova, Department of Medical and Surgical Sciences, Clinica Medica 3, Centre for Male Gamete Cryopreservation, Via Ospedale 105, 35128 Padova, Italy 2 University of Roma “La Sapienza” ...
2 Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute and Department of Pathology and Laboratory Medicine, Mount Sinai Hospital; Department of Laboratory Medicine and ...
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