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Practical Neurology|July 19, 2023
Genomic testing in neurologyVani Jain, Rachel Irving, Angharad WilliamsSchizophrenia Research|November 2, 2023
The translation of psychiatric genetic findings to the clinicKimberley Marie Kendall, Donna Duffin, Joanne Doherty, et al.American Journal of Medical Genetics. Part A|March 2, 2023
SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrumKatharine Edgerley, Lisa Bryson, Lucy Hanington, et al.European Journal of Medical Genetics|February 1, 2023
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patientsAsma Hamad, Charlotte A Sherlaw-Sturrock, Kate Glover, et al.Clinical Genetics|May 11, 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrumAlessandra Rossi, Lot Snijders Blok, Sonja Neuser, et al.Nature Genetics|January 10, 2017
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T Gordon, Shifeng Xue, Gökhan Yigit, et al.Genetics in Medicine Open|January 17, 2025
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disordersHarriet Copeland, Karen J Low, Sarah L Wynn, et al.Pageof 1