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Human Molecular Genetics|January 25, 2015
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease geneSolaf M Elsayed, Jennifer B Phillips, Raoul Heller, et al.Brain : a Journal of Neurology|June 27, 2022
Mutations in TAF8 cause a neurodegenerative disorderKeit Men Wong, Wayne M Jepsen, Stephanie Efthymiou, et al.American Journal of Human Genetics|November 3, 2018
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual DisabilityKarl P Schlingmann, Sascha Bandulik, Cherry Mammen, et al.British Journal of Cancer|February 22, 2023
Genomic ALK alterations in primary and relapsed neuroblastomaCarolina Rosswog, Jana Fassunke, Angela Ernst, et al.Human Genetics|September 21, 2021
Biallelic variants in YRDC cause a developmental disorder with progeroid featuresJulia Schmidt, Jonas Goergens, Tatiana Pochechueva, et al.Molecular Cell|May 1, 2018
HMGB2 Loss upon Senescence Entry Disrupts Genomic Organization and Induces CTCF Clustering across Cell TypesAnne Zirkel, Milos Nikolic, Konstantinos Sofiadis, et al.Journal of Medical Genetics|February 5, 2016
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestaltNataliya Di Donato, Teresa Neuhann, Anne-Karin Kahlert, et al.Genome Research|January 13, 2016
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and miceMalte Spielmann, Naseebullah Kakar, Naeimeh Tayebi, et al.Cell Stem Cell|August 18, 2021
Human brain organoids assemble functionally integrated bilateral optic vesiclesElke Gabriel, Walid Albanna, Giovanni Pasquini, et al.Annals of Neurology|March 5, 2014
DEPDC5 mutations in genetic focal epilepsies of childhoodDennis Lal, Eva M Reinthaler, Julian Schubert, et al.Pageof 33