Showing results (31-40 of 39) with videos related to
Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
Clinical Genetics|October 11, 2019
Skeletal abnormalities are common features in Aymé-Gripp syndromeMarcello Niceta, Domenico Barbuti, Neerja Gupta, et al.Human Mutation|May 9, 2015
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL MutationsSimone Martinelli, Emilia Stellacci, Luca Pannone, et al.Human Molecular Genetics|February 22, 2014
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotypePamela Magini, Tommaso Pippucci, I-Chun Tsai, et al.Cell Death & Disease|March 1, 2019
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseasesLudovica Grassi, Romina Alfonsi, Federica Francescangeli, et al.American Journal of Human Genetics|July 13, 2010
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotypeSimone Martinelli, Alessandro De Luca, Emilia Stellacci, et al.Nature Genetics|July 15, 2014
Mutations in ZBTB20 cause Primrose syndromeViviana Cordeddu, Bert Redeker, Emilia Stellacci, et al.American Journal of Human Genetics|April 14, 2015
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like FaciesMarcello Niceta, Emilia Stellacci, Karen W Gripp, et al.Human Molecular Genetics|April 8, 2014
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisElisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, et al.American Journal of Human Genetics|February 17, 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.Pageof 4