Showing results (3881-3890 of 5,826) with videos related to
Sort By:
Pageof 583
Human Mutation|May 9, 2019
Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis siteCarlijn Brekelmans, Silke Hollants, Caroline De Groote, et al.Human Mutation|May 9, 2019
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminusNastassja Himmelreich, Bianca Dimitrov, Virginia Geiger, et al.Human Mutation|July 2, 2016
Deep Genetic Connection Between Cancer and Developmental DisordersHongjian Qi, Chengliang Dong, Wendy K Chung, et al.Human Mutation|March 25, 2018
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephalyAlistair T Pagnamenta, Yoshiko Murakami, Consuelo Anzilotti, et al.Human Mutation|March 25, 2018
Novel approach to functional SNPs discovery from genome-wide data reveals promising variants for colon cancer riskElena E Korbolina, Ilja I Brusentsov, Leonid O Bryzgalov, et al.Human Mutation|November 8, 2019
TJP2 hepatobiliary disorders: Novel variants and clinical diversityJing Zhang, Lang-Li Liu, Jing-Yu Gong, et al.Human Mutation|May 18, 2022
MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variantsAgnese Giovannetti, Salvatore Daniele Bianco, Alice Traversa, et al.Human Mutation|June 26, 2021
CanVaS: Documenting the genetic variation spectrum of Greek cancer patientsDespoina Kalfakakou, Florentia Fostira, Athanasios Papathanasiou, et al.Human Mutation|June 21, 2021
A Functional Variant on 9p21.3 Related to Glioma Risk Affects Enhancer Activity and Modulates Expression of CDKN2B-AS1Mourad Wagdy Ali, C Pawan K Patro, Matthew Devall, et al.Human Mutation|June 22, 2021
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorderFrancesca Semino, Julian Schröter, Marjolein H Willemsen, et al.Pageof 583