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Journal of Human Genetics|December 15, 2015
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disabilitySilvia Moncini, Paola Castronovo, Alessandra Murgia, et al.Journal of Autism and Developmental Disorders|November 9, 2021
Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype CorrelationPaola Francesca Ajmone, Beatrice Allegri, Anna Cereda, et al.American Journal of Medical Genetics. Part A|October 7, 2015
Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?Valeria Cavalleri, Laura R Bettini, Chiara Barboni, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|January 23, 2025
Moebius syndrome and hypopituitarism: a case of multiple pituitary hormone deficiency and revision of the literatureSilvia Molinari, Maria Laura Nicolosi, Angelo Selicorni, et al.Journal of Hypertension|April 28, 2015
Increased nocturnal heart rate and wave reflection are early markers of cardiovascular disease in Williams-Beuren syndrome childrenAlessandro Maloberti, Francesca Cesana, Bernhard Hametner, et al.American Journal of Medical Genetics. Part A|March 27, 2014
Cervical spine malformation in cornelia de lange syndrome: a report of three patientsLaura Rachele Bettini, Laura Locatelli, Milena Mariani, et al.Frontiers in Genetics|August 2, 2023
Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrumAlessandro Vimercati, Pierpaola Tannorella, Eleonora Orlandini, et al.American Journal of Medical Genetics. Part A|March 14, 2012
Audiological findings in Williams syndrome: a study of 69 patientsStefania Barozzi, Daniela Soi, Elisabetta Comiotto, et al.Journal of Clinical Pathology|April 6, 2019
First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemiaGrazia Fazio, Valentina Massa, Andrea Grioni, et al.International Journal of Molecular Sciences|March 7, 2019
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16Serena Redaelli, Silvia Maitz, Francesca Crosti, et al.Pageof 19