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American Journal of Medical Genetics. Part A|November 12, 2013
Giant breast tumors in a patient with Beckwith-Wiedemann syndromeGerarda Cappuccio, Agostina De Crescenzo, Giuseppe Ciancia, et al.
European Journal of Human Genetics : EJHG|February 11, 2016
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasiaGaetano Terrone, Norine Voisin, Ali Abdullah Alfaiz, et al.
Diagnostics (Basel, Switzerland)|August 7, 2021
Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating VariantsRaffaella Brunetti-Pierri, Marianthi Karali, Francesco Testa, et al.
American Journal of Medical Genetics. Part A|June 26, 2024
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variantsCristina Peduto, Gerarda Cappuccio, Roberta Zeuli, et al.
Stem Cell Reports|August 22, 2025
Computationally resolved neuroprogenitor cell biomarkers associate with human disordersGerarda Cappuccio, William T Choi, Fatih Semerci, et al.
European Journal of Human Genetics : EJHG|June 2, 2019
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorderGerarda Cappuccio, Sergio Attanasio, Marianna Alagia, et al.
Molecular Genetics and Metabolism Reports|June 30, 2020
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in <i>PEX1</i>: Detailed clinical investigation in a 9-years-old femaleMaria Rosaria Barillari, Marianthi Karali, Valentina Di Iorio, et al.
Computational and Structural Biotechnology Journal|May 18, 2026
Latent Factor Modeling Reveals Unexpected Spatial Heterogeneity in Human Alzheimer's Disease Brain TranscriptomesRami Al-Ouran, Chaozhong Liu, Linhua Wang, et al.
European Journal of Human Genetics : EJHG|April 3, 2019
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled femalesMarcello Scala, Annalaura Torella, Mariasavina Severino, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22Daniela Melis, Rita Genesio, Gerarda Cappuccio, et al.
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