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Case Reports in Genetics|August 21, 2019
Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical FeaturesJacquelyn D Riley, Catherine M Stefaniuk, Francine Erenberg, et al.Case Reports in Genetics|May 17, 2019
SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular DiseaseJ M Ramirez, F A Rodríguez, M I Echeverría, et al.Case Reports in Genetics|May 17, 2019
Ocular Manifestations of the NAA10-Related SyndromeAngela S Gupta, Hind Al Saif, Jennifer M Lent, et al.Case Reports in Genetics|April 19, 2022
Microdeletion of 4p16.2 in Children: A Case Report and Literature ReviewYanjie Qian, Xiaoying Wang, Wei Tang, et al.Case Reports in Genetics|April 22, 2022
Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated LiposarcomaHongyan Chai, Fang Xu, Autumn DiAdamo, et al.Case Reports in Genetics|June 12, 2015
PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 MicroduplicationAngelika J Dawson, Janice Cox, Karine Hovanes, et al.Case Reports in Genetics|June 16, 2015
3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar CasesAna Belén de la Hoz, Hiart Maortua, Ainhoa García-Rives, et al.Case Reports in Genetics|February 23, 2023
4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental DelayYukino Kawanami, Tomoko Horinouchi, Naoya Morisada, et al.Case Reports in Genetics|February 23, 2023
Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup)Maria Arvio, Jaana Lähdetie, Hannu Koivu, et al.Case Reports in Genetics|April 9, 2014
Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I DeficiencySara Domingues, Lara Isidoro, Dalila Rocha, et al.Pageof 34