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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental DisordersRamy Saad, Clementina Cobolli Gigli, Pleuntje J van der Sluijs, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Clinical and molecular consequences of disease-associated de novo mutations in SATB2Hemant Bengani, Mark Handley, Mohsan Alvi, et al.European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.Cytometry. Part a : the Journal of the International Society for Analytical Cytology|August 30, 2008
MIFlowCyt: the minimum information about a Flow Cytometry ExperimentJamie A Lee, Josef Spidlen, Keith Boyce, et al.Human Mutation|April 28, 2012
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisMathilde Nizon, Céline Huber, Fabio De Leonardis, et al.Journal of Medical Genetics|April 21, 2021
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disordersLeslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, et al.Clinical Genetics|January 25, 2019
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statementMarcella Zollino, Christiane Zweier, Ingrid D Van Balkom, et al.Nature Communications|November 4, 2022
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for visionPaul W Chrystal, Nils J Lambacher, Lance P Doucette, et al.American Journal of Human Genetics|September 1, 2009
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and femalesRoberto Giorda, M Clara Bonaglia, Silvana Beri, et al.American Journal of Human Genetics|April 2, 2013
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseEmma M Jenkinson, Atteeq U Rehman, Tom Walsh, et al.Pageof 36