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Neuroscience Letters|April 3, 2007
Evidence of disturbed amygdalar energy metabolism in patients with borderline personality disorderL Tebartz van Elst, P Ludaescher, T Thiel, et al.American Journal of Medical Genetics. Part A|August 20, 2013
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterizationBertrand Isidor, Loïc Geffroy, Benoît de Courtivron, et al.Acta Neuropathologica Communications|April 29, 2016
Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophyLilli Winter, Matthias Türk, Patrick N Harter, et al.European Journal of Medical Genetics|July 6, 2020
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2Katalin L M L Hetzelt, Cornelia Kraus, Stefan Kusnik, et al.Journal of Medical Genetics|April 16, 2005
Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2A Rauch, S Zink, C Zweier, et al.Cancer Cell|February 18, 2010
MLL-AF9-induced leukemogenesis requires coexpression of the wild-type Mll alleleAustin T Thiel, Peter Blessington, Tao Zou, et al.The Journal of Biological Chemistry|June 8, 2025
Molecular consequences of SCA5 mutations in the spectrin-repeat domains of β-III-spectrinSarah A Denha, Naomi R DeLaet, Abeer W Abukamil, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|February 21, 2019
Epilepsy surgery in the first months of life: a large type IIb focal cortical dysplasia causing neonatal drug-resistant epilepsyIngo Borggraefe, Moritz Tacke, Lucia Gerstl, et al.Orphanet Journal of Rare Diseases|February 13, 2019
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathyMoritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, et al.European Journal of Human Genetics : EJHG|May 1, 2018
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short statureAntonino Montalbano, Lonny Juergensen, Maki Fukami, et al.Pageof 17