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European Journal of Medical Genetics|May 2, 2024
DPF2-related Coffin-Siris syndrome type 7 in two generationsKonstantinos Kolokotronis, Aude-Annick Suter, Ivan Ivanovski, et al.Molecular Genetics & Genomic Medicine|June 2, 2016
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) geneAude-Annick Suter, Peter Itin, Karl Heinimann, et al.American Journal of Medical Genetics. Part A|June 28, 2020
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individualsAude-Annick Suter, Fernando Santos-Simarro, Pernille Mathiesen Toerring, et al.JAMA Ophthalmology|May 20, 2021
Genetic Analysis in a Swiss Cohort of Bilateral Congenital CataractDelia Rechsteiner, Lydia Issler, Samuel Koller, et al.European Journal of Human Genetics : EJHG|December 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorderCosima M Schmid, Anne Gregor, Anna Ruiz, et al.Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.Pageof 1