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Case Reports in Genetics|November 10, 2023
Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature ReviewKhaliunaa Bayanbold, Georgianne Younger, Benjamin Darbro, et al.Case Reports in Genetics|March 20, 2023
45, X/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer SyndromeYu Han, Jiebin Wu, Fangfang Tan, et al.Case Reports in Genetics|May 25, 2026
A Case Highlighting the Importance of Timely Intervention for a Male With AZFb + c MicrodeletionRahul Atodaria, Randa AbdelmasihCase Reports in Genetics|March 12, 2026
Novel Generation-Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic CounselingBreanna Beers, Hamilton Wexler, Gretchen MacCarrickCase Reports in Genetics|June 16, 2015
Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake DefectHatice Mutlu-Albayrak, Judit Bene, Mehmet Burhan Oflaz, et al.Case Reports in Genetics|January 11, 2018
Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital AnomaliesSamuel Bloor, Dinesh Giri, Mohammed Didi, et al.Case Reports in Genetics|December 25, 2018
Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome SequencingAhmed Bouhouche, Houyam Tibar, Yamna Kriouale, et al.Case Reports in Genetics|May 7, 2020
Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the LiteratureE Barkovich, A L GropmanCase Reports in Genetics|August 22, 2022
Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)Zul Qarnain, Fatima Khan, Fizza Akbar, et al.Case Reports in Genetics|August 13, 2015
12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly RegionAdrian Mc Cormack, Cynthia Sharpe, Nerine Gregersen, et al.Pageof 35