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Best Practice & Research. Clinical Obstetrics & Gynaecology|February 17, 2017
Genetics of gynaecological cancersPanayiotis Constantinou, Marc Tischkowitz
Journal of Medical Genetics|October 30, 2025
Cardiovascular risk in achondroplasia: a systematic reviewIrene Lo, Shraddha Meti, Avril Mason, et al.
Molecular Syndromology|March 22, 2016
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing, Panayiotis Constantinou, Mariella D'Alessandro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2020
Evaluating variants classified as pathogenic in ClinVar in the DDD StudyCaroline F Wright, Ruth Y Eberhardt, Panayiotis Constantinou, et al.
Bone Reports|March 20, 2023
Progressive osseous heteroplasia: A case report with an unexpected triggerAlessandra Boncompagni, Angela K Lucas-Herald, Paula Beattie, et al.
Journal of Neuromuscular Diseases|September 4, 2022
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotypeAgata Oliwa, Shuko Joseph, Eoghan Millar, et al.
American Journal of Medical Genetics. Part A|December 11, 2021
Further delineation of phenotypic spectrum of SCN2A-related disorderRuth Richardson, Diana Baralle, Christopher Bennett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 1, 2022
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorderHolly Melland, Fabian Bumbak, Anna Kolesnik-Taylor, et al.
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