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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 PanditCase Reports in Genetics|December 20, 2021
Delayed Diagnosis of McCune-Albright SyndromeBereket Fantahun, Seblewongel DestaCase Reports in Genetics|November 15, 2021
Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-IndiansParminder Kaur, Inusha Panigrahi, Harleen Kaur, et al.Case Reports in Genetics|November 15, 2021
Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA DepletionJustin Kurtz, Joseph Americo Fernandes, Mahesh Mansukhani, et al.Case Reports in Genetics|September 6, 2019
Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin SyndromeGustav Askaner, Ulrikke Lei, Birgitte Bertelsen, et al.Case Reports in Genetics|June 12, 2015
Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion SyndromeKristen Dilzell, Diana Darcy, John Sum, et al.Pageof 35