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International Journal of Environmental Research and Public Health|December 16, 2020
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the LiteratureNatália Oliva-Teles, Maria Chiara de Stefano, Louise Gallagher, et al.
Orphanet Journal of Rare Diseases|March 25, 2022
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centersAnna Tylki-Szymańska, Zsuzsanna Almássy, Violetta Christophidou-Anastasiadou, et al.
European Journal of Human Genetics : EJHG|October 21, 2020
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsideredJulia Brinkmann, Christina Lissewski, Valentina Pinna, et al.
European Journal of Human Genetics : EJHG|August 20, 2025
MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysisBenjamin Huremagic, Nishkala Sattanathan, Mathilde Geysens, et al.
Human Mutation|January 12, 2017
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeLuca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, et al.
American Journal of Human Genetics|May 28, 2019
Activating Mutations of RRAS2 Are a Rare Cause of Noonan SyndromeYline Capri, Elisabetta Flex, Oliver H F Krumbach, et al.
The American Journal of Psychiatry|January 1, 2021
A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number VariantsSamuel J R A Chawner, Joanne L Doherty, Richard J L Anney, et al.
Orphanet Journal of Rare Diseases|June 17, 2020
Mowat-Wilson syndrome: growth chartsIvan Ivanovski, Olivera Djuric, Serena Broccoli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2016
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsLivia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for careIvan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, et al.
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