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Stem Cells and Development|June 20, 2012
In vivo differentiated human embryonic stem cells can acquire chromosomal aberrations more frequently than in vitro during the same periodMarco Zucchelli, Susanne Ström, Frida Holm, et al.Journal of the Neurological Sciences|June 28, 2023
Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disordersMartin Paucar, José Laffita-Mesa, Valter Niemelä, et al.Plos One|December 11, 2013
GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatmentMikael Engman, Suby Varghese, Kristina Lagerstedt Robinson, et al.Prenatal Diagnosis|September 19, 2017
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disordersMaria Wilbe, Sanna Gudmundsson, Josefin Johansson, et al.Acta Obstetricia Et Gynecologica Scandinavica|June 14, 2024
Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testingJosephine Wincent, Hafdís T Helgadóttir, Fotios Sergouniotis, et al.Scientific Reports|October 7, 2025
TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotypeAlexander Sun Zhang, Meis Omran, Cecilia Arthur, et al.American Journal of Medical Genetics. Part A|April 29, 2010
Molecular and clinical characterization of patients with overlapping 10p deletionsAnna Lindstrand, Helena Malmgren, Annapia Verri, et al.Molecular Genetics & Genomic Medicine|February 4, 2022
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variantsSofia Frisk, Alexandra Wachtmeister, Tobias Laurell, et al.Cerebellum & Ataxias|July 27, 2019
The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4CHumberto Skott, Cristina Muntean-Firanescu, Kristin Samuelsson, et al.Journal of the Neurological Sciences|April 20, 2024
Novel findings in a Swedish primary familial brain calcification cohortStefan Sennfält, Peter Gustavsson, Helena Malmgren, et al.Pageof 4