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Clinical Epigenetics|January 10, 2020
DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factorsLoora Laan, Joakim Klar, Maria Sobol, et al.Human Mutation|March 31, 2019
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42Muhammad Zakaria, Ambrin Fatima, Joakim Klar, et al.American Journal of Human Genetics|June 14, 2011
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasiaAnne-Sophie Fröjmark, Jens Schuster, Maria Sobol, et al.Molecular Neurobiology|April 17, 2019
Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular FunctionsMaria Sobol, Joakim Klar, Loora Laan, et al.Plos Genetics|July 8, 2017
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damageJoakim Klar, Jörg Piontek, Susanne Milatz, et al.Human Molecular Genetics|September 11, 2008
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failureMahmoud Reza Mansouri, Jens Schuster, Jitendra Badhai, et al.American Journal of Human Genetics|March 16, 2010
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosisJohanna Dahlqvist, Joakim Klar, Neha Tiwari, et al.Frontiers in Molecular Neuroscience|November 10, 2022
ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and functionJens Schuster, Joakim Klar, Ayda Khalfallah, et al.Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|July 9, 2019
Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani familiesShumaila Zulfiqar, Muhammad Tariq, Zafar Ali, et al.Frontiers in Genetics|October 15, 2019
Ataxia in Patients With Bi-Allelic <i>NFASC</i> Mutations and Absence of Full-Length NF186Malin Kvarnung, Mansoureh Shahsavani, Fulya Taylan, et al.Pageof 6