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European Journal of Human Genetics : EJHG|June 21, 2012
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of FallotValentina Guida, Rosangela Ferese, Marcella Rocchetti, et al.International Journal of Molecular Sciences|December 29, 2017
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of LiteratureFrancesca Romana Lepri, Dario Cocciadiferro, Bartolomeo Augello, et al.Human Mutation|June 20, 2003
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasiaAlessandra Tessa, Sergio Salvi, Carlo Casali, et al.Journal of Medical Virology|April 14, 2021
Severe herpes virus 6 interstitial pneumonia in an infant with three variants in genes predisposing to lung diseaseDomenico Umberto De Rose, Cinzia Auriti, Simona Lozzi, et al.Scientific Reports|November 4, 2023
Williams-Beuren syndrome shapes the gut microbiota metaproteomeValeria Marzano, Stefano Levi Mortera, Pamela Vernocchi, et al.Italian Journal of Pediatrics|March 5, 2024
Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literatureChiara Maddaloni, Sara Ronci, Domenico Umberto De Rose, et al.American Journal of Medical Genetics. Part A|December 31, 2021
Congenital heart defects in molecularly confirmed KBG syndrome patientsMaria Cristina Digilio, Giulio Calcagni, Maria Gnazzo, et al.American Journal of Medical Genetics. Part A|June 11, 2022
Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variantRoberto Paparella, Anna Maria Caroleo, Emanuele Agolini, et al.Journal of Hematology & Oncology|June 14, 2017
Rituximab-containing reduced-intensity conditioning improves progression-free survival following allogeneic transplantation in B cell non-Hodgkin lymphomaNarendranath Epperla, Kwang Woo Ahn, Sairah Ahmed, et al.European Journal of Medical Genetics|July 6, 2020
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variantsFanny Kortüm, Marcello Niceta, Monia Magliozzi, et al.Pageof 56