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Orphanet Journal of Rare Diseases|July 21, 2023
The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorderDagmar K Tiemens, Lotte Kleimeier, Erika Leenders, et al.
European Journal of Human Genetics : EJHG|August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsChristina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2022
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional testsElise A Ferreira, Annemarijne R J Veenvliet, Udo F H Engelke, et al.
European Journal of Human Genetics : EJHG|January 13, 2021
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotypeMeena Balasubramanian, Alexander J M Dingemans, Shadi Albaba, et al.
American Journal of Human Genetics|April 28, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signatureDmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, et al.
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