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Case Reports in Genetics|September 22, 2023
An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader-Willi SyndromeMolly M Crenshaw, Sharon L Graw, Dobromir Slavov, et al.Case Reports in Genetics|June 23, 2023
A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic VariantMichael Gibbs, Alysa Poulin, Yanwei Xi, et al.Case Reports in Genetics|November 30, 2019
Case of Inherited Partial AZFa Deletion without Impact on Male FertilityBaiba Alksere, Dace Berzina, Alesja Dudorova, et al.Case Reports in Genetics|October 28, 2020
Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri LankaMaheshi Wijayabandara, Champika Gamakaranage, Dineshani HettiarachchiCase Reports in Genetics|December 10, 2020
Corrigendum to "Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review"Jamie H Choi, Rachel Li, Rachel Gannaway, et al.Case Reports in Genetics|March 17, 2021
A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye SyndromeJinjie Li, Yue Zhang, Yanjun Diao, et al.Case Reports in Genetics|February 25, 2021
Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic ReviewJamie H Choi, Rachel Li, Rachel Gannaway, et al.Case Reports in Genetics|April 30, 2014
Microduplication of 3p26.3 implicated in cognitive developmentLeah Te Weehi, Raj Maikoo, Adrian Mc Cormack, et al.Case Reports in Genetics|April 30, 2014
A turner syndrome patient carrying a mosaic distal x chromosome markerRoberto L P Mazzaschi, Juliet Taylor, Stephen P Robertson, et al.Case Reports in Genetics|March 4, 2017
A Newborn with Panhypopituitarism and SeizuresTrupti Kale, Rachit Patil, Ramesh PanditPageof 34