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Case Reports in Genetics|September 5, 2025
Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3Sigrid Skovby Olsen, Anja Ernst, Pia Sønderby Christensen, et al.Case Reports in Genetics|June 12, 2015
Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and HypobetalipoproteinemiaLeema Reddy Peddareddygari, Raji P GrewalCase Reports in Genetics|June 12, 2015
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese FamiliesMaria Valencia, Lara Tabet, Nadine Yazbeck, et al.Case Reports in Genetics|June 16, 2015
Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY SyndromeSefa Resim, Faruk Kucukdurmaz, Nazım Kankılıc, et al.Case Reports in Genetics|November 14, 2018
V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type IKwo Wei David Ho, Nivedita U JerathCase Reports in Genetics|November 14, 2018
Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney SyndromeL Swan, G Gole, V Sabesan, et al.Case Reports in Genetics|July 27, 2018
A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille SyndromeAlejandra Del Pilar Reyes-de la Rosa, Gustavo Varela-Fascinetto, Constanza García-Delgado, et al.Case Reports in Genetics|May 20, 2017
Neoplasia in Cri du Chat Syndrome from Italian and German DatabasesAndrea Guala, Marianna Spunton, Silvia Kalantari, et al.Case Reports in Genetics|February 25, 2014
Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II DeficiencyM Vavlukis, A Eftimov, P Zafirovska, et al.Case Reports in Genetics|February 25, 2014
Absence of substantial copy number differences in a pair of monozygotic twins discordant for features of autism spectrum disorderMarina Laplana, José Luis Royo, Anton Aluja, et al.Pageof 35