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American Journal of Medical Genetics. Part A|August 14, 2012
17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrumAbhijit Dixit, Chirag Patel, Rachel Harrison, et al.Frontiers in Pediatrics|January 27, 2023
Multiple congenital anomalies and adverse developmental outcomes are associated with neonatal intensive care admission and unilateral hearing lossLucy M Horrocks, Pádraig T Kitterick, Dulip S Jayasinghe, et al.American Journal of Medical Genetics. Part A|September 19, 2017
Cover Image, Volume 173A, Number 10, October 2017Rani A Bashir, Abhijit Dixit, Caitlin Goedhart, et al.Plos One|July 24, 2024
UK and US risk factors for hearing loss in neonatal intensive care unit infantsSally K Thornton, Derek J Hoare, Alice M Yates, et al.American Journal of Medical Genetics. Part A|July 12, 2017
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disordersRani A Bashir, Abhijit Dixit, Caitlin Goedhart, et al.Journal of Medical Genetics|August 29, 2022
A founder UMOD variant is a common cause of hereditary nephropathy in the British populationManoj K Valluru, Noelle Kx Chung, Mark Gilchrist, et al.Genes|July 27, 2024
A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a BenchmarkYang Pei, Melanie Tanguy, Adam Giess, et al.Scientific Reports|March 26, 2022
Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecanEva-Lena Stattin, Karin Lindblom, André Struglics, 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.European Urology Oncology|December 14, 2019
Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected IndividualsClaire Forde, Derek H K Lim, Yousef Alwan, et al.Pageof 4