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Case Reports in Genetics|January 16, 2019
Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B GeneSalma M Wakil, Dorota Monies, Samya Hagos, et al.Case Reports in Genetics|November 30, 2019
Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann SyndromeManickavasagam Senthilraja, Aaron Chapla, Felix K Jebasingh, et al.Case Reports in Genetics|February 9, 2019
8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable EpilepsyAlejandra Rincon, Paola Paez-Rojas, Fernando Suárez-ObandoCase Reports in Genetics|December 12, 2018
Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL GeneCharles Volk, Gregory MatwiyoffCase Reports in Genetics|November 5, 2025
Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti-Harel SyndromeNicole Nakousi C, Catalina Nakousi M, Gabriela Perez CCase Reports in Genetics|July 15, 2025
A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its ImplicationsAriel Tarrell, Jessika Weber, Reem Shawar, et al.Case Reports in Genetics|November 10, 2025
Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual DevelopmentLeena Rawal, Deepak Panwar, Ravinder Kumar, et al.Case Reports in Genetics|September 8, 2025
An Unexpected Case of Somatic Mosaicism of the Dutch p16-Leiden Founder Variant in the CDKN2A GeneM van der Meulen, J T van Wezel, D Terlouw, et al.Case Reports in Genetics|October 24, 2025
A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case ReportCatherine Kentros, Wendy K Chung, Mythily GanapathiCase Reports in Genetics|August 13, 2014
Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney DiseasePankaj Thakur, Paul Speer, Aleksandar RajkovicPageof 34