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Communications Medicine|May 18, 2026
Trametinib for multiple non-ossifying fibromas due to KRAS mosaic mutations: two case reportsMarie Vincent, Soizic Tiriau, Marine Fouillet-Desjonqueres, et al.
Clinical Genetics|September 2, 2024
Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS)Jeanne Jury, Jean-François Benoist, Madeleine Joubert, et al.
Zeitschrift Fur Evidenz, Fortbildung Und Qualitat Im Gesundheitswesen|May 23, 2022
Implementation of shared decision-making and patient-centered care in France: Towards a wider uptake in 2022Nora Moumjid, Marie-Anne Durand, Julien Carretier, et al.
Neurology. Clinical Practice|May 1, 2024
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical ReportPierre-Louis Lanvin, Dong Li, Solène Conrad, et al.
European Journal of Medical Genetics|August 25, 2018
Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variantChloé Angelini, Julien Van Gils, Antoine Bigourdan, et al.
European Journal of Human Genetics : EJHG|January 4, 2023
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel casesLottie D Morison, Olivia van Reyk, Elana Forbes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 8, 2014
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndromeElise Schaefer, Corinne Collet, David Genevieve, et al.
Genetics in Medicine Open|July 24, 2026
Broadening the inherited ASXL3 spectrum and unveiling molecular mechanisms through detailed genotypic-phenotypic analysesEmily Woods, Nicola Holmes, Catherine Gooch, et al.
Nature Communications|February 18, 2025
A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndromeRana El Masri, Alberto Iannuzzo, Paul Kuentz, et al.
Molecular Medicine (Cambridge, Mass.)|March 1, 2019
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypesAnaïs Begemann, Mario A Acuña, Markus Zweier, et al.
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