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Human Molecular Genetics|May 5, 2017
New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsyAlexandra Pinggera, Luisa Mackenroth, Andreas Rump, et al.American Journal of Medical Genetics. Part A|June 4, 2016
Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disabilityLuisa Mackenroth, Karl Hackmann, Barbara Klink, et al.American Journal of Medical Genetics. Part A|September 4, 2015
6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalitiesLuisa Mackenroth, Karl Hackmann, Anke Beyer, et al.Clinical Dysmorphology|June 1, 2017
Pierpont syndrome: report of a new patientAnne-Karin Kahlert, Sabine Weidensee, Luisa Mackenroth, et al.Analytical and Bioanalytical Chemistry|April 6, 2012
Label-free differentiation of human pituitary adenomas by FT-IR spectroscopic imagingGerald Steiner, Luisa Mackenroth, Kathrin D Geiger, et al.European Journal of Medical Genetics|August 16, 2017
BRCA1/2 missense mutations and the value of in-silico analysesCarolin E Sadowski, Daniela Kohlstedt, Cornelia Meisel, et al.American Journal of Medical Genetics. Part A|August 5, 2017
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disabilityLaura Gieldon, Luisa Mackenroth, Elitza Betcheva-Krajcir, et al.Neuropediatrics|March 9, 2016
Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow FailureMaria Dehmel, Sebastian Brenner, Meinolf Suttorp, et al.American Journal of Medical Genetics. Part A|January 23, 2016
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencingLuisa Mackenroth, Björn Fischer-Zirnsak, Johannes Egerer, et al.Archives of Gynecology and Obstetrics|March 22, 2017
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center studyCornelia Meisel, Carolin Eva Sadowski, Daniela Kohlstedt, et al.Pageof 2