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Current Opinion in Genetics & Development|April 23, 2013
CNVs of noncoding cis-regulatory elements in human diseaseMalte Spielmann, Eva KlopockiAmerican Journal of Medical Genetics. Part A|December 7, 2013
Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and reviewIbrahim Akalin, Senol Bozdag, Malte Spielmann, et al.European Journal of Medical Genetics|May 21, 2011
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblingsMalte Spielmann, Gabriele Reichelt, Christoph Hertzberg, et al.Orphanet Journal of Rare Diseases|September 19, 2014
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated familiesNaeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, et al.Human Molecular Genetics|June 30, 2016
Looking beyond the genes: the role of non-coding variants in human diseaseMalte Spielmann, Stefan MundlosAnnual Review of Genomics and Human Genetics|July 16, 2011
Copy-number variations, noncoding sequences, and human phenotypesEva Klopocki, Stefan MundlosBioessays : News and Reviews in Molecular, Cellular and Developmental Biology|April 30, 2013
Structural variations, the regulatory landscape of the genome and their alteration in human diseaseMalte Spielmann, Stefan MundlosCold Spring Harbor Molecular Case Studies|April 28, 2022
Computational and experimental methods for classifying variants of unknown clinical significanceMalte Spielmann, Martin KircherMethods in Molecular Biology (Clifton, N.J.)|September 25, 2016
CRISPR/Cas9 Genome Editing in Embryonic Stem CellsGuillaume Andrey, Malte SpielmannMolecular Diagnosis & Therapy|August 8, 2023
Single-Cell Sequencing in Neurodegenerative DisordersJelena Pozojevic, Malte SpielmannPageof 22