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International Journal of Molecular Sciences|July 13, 2024
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological MechanismAntonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovese, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromasValentina Pinna, Valentina Lanari, Paola Daniele, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variantAndrea Gazzin, Federico Fornari, Marcello Niceta, et al.
Human Molecular Genetics|April 25, 2015
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the ciliumJosé A Caparrós-Martín, Alessandro De Luca, François Cartault, et al.
European Journal of Medical Genetics|December 21, 2024
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohortDavide Vecchio, Filippo M Panfili, Marina Macchiaiolo, et al.
Genes|January 21, 2023
Prenatal Screening and Diagnostic Considerations for 22q11.2 MicrodeletionsNatalie Blagowidow, Beata Nowakowska, Erica Schindewolf, et al.
Circulation. Cardiovascular Genetics|May 13, 2015
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesLaura Southgate, Maja Sukalo, Anastasios S V Karountzos, et al.
European Journal of Human Genetics : EJHG|March 26, 2024
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicismMarcello Niceta, Andrea Ciolfi, Marco Ferilli, et al.
International Journal of Molecular Sciences|February 3, 2021
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)Valentina Guida, Luciano Calzari, Maria Teresa Fadda, et al.
Hormone Research in Paediatrics|February 16, 2026
Long-term growth hormone therapy improves adult height in children with Indian hedgehog (IHH)-related short statureJoaquim de Matos Cavalcante, Laurana de Polli Cellin, Amanda Latuffe Soares Damião, et al.
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