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Prenatal Diagnosis|September 23, 2024
Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case SeriesEleanor Broeren, Samantha Stover, Katya Bennett, et al.Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|September 13, 2024
Maternal Cytomegalovirus (CMV) Serology: The Diagnostic Limitations of CMV IgM and IgG Avidity in Detecting Congenital CMV InfectionElaine S Chan, Ian Suchet, David Somerset, et al.Journal of Medical Genetics|September 21, 2021
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical GeneticistsJoanna Lazier, Taila Hartley, Jo-Ann Brock, et al.Frontiers in Cell and Developmental Biology|March 21, 2025
A zebrafish model of <i>crim1</i> loss of function has small and misshapen lenses with dysregulated <i>clic4</i> and <i>fgf1b</i> expressionTien Le, Stephanie Htun, Manoj Kumar Pandey, et al.Journal of Neurodevelopmental Disorders|May 17, 2014
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problemsSébastien Chénier, Grace Yoon, Bob Argiropoulos, et al.American Journal of Medical Genetics. Part A|November 10, 2023
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approachLeanne de Kock, Alexanne Cuillerier, Meredith Gillespie, et al.American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.Journal of Medical Genetics|May 9, 2015
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical GeneticistsKym Boycott, Taila Hartley, Shelin Adam, et al.Brain : a Journal of Neurology|May 15, 2023
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)Nicholas M Allen, Mark O'Rahelly, Bruno Eymard, et al.Medrxiv : the Preprint Server for Health Sciences|November 22, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.Pageof 3