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Case Reports in Genetics|January 25, 2020
Familial Russell-Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further CaseA H Sabir, G Ryan, Z Mohammed, et al.
Case Reports in Genetics|January 25, 2020
Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 SyndromeCristian Petter, Lilia Maria Azevedo Moreira, Mariluce Riegel
Case Reports in Genetics|October 30, 2020
Acute Intermittent Porphyria in a Man with Dual Enzyme DeficienciesG N Cerbino, L Abou Assali, L S Varela, et al.
Case Reports in Genetics|June 7, 2017
Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan AfricaA M Ali, R M Mbwasi, G Kinabo, et al.
Case Reports in Genetics|October 9, 2023
Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay-Barrow/Foar Syndrome)Alessia Mingarelli, Giovanni Battista Pipitone, Giacomo Torini, et al.
Case Reports in Genetics|September 22, 2023
An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader-Willi SyndromeMolly M Crenshaw, Sharon L Graw, Dobromir Slavov, et al.
Case Reports in Genetics|June 23, 2023
A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic VariantMichael Gibbs, Alysa Poulin, Yanwei Xi, et al.
Case Reports in Genetics|November 30, 2019
Case of Inherited Partial AZFa Deletion without Impact on Male FertilityBaiba Alksere, Dace Berzina, Alesja Dudorova, et al.
Case Reports in Genetics|October 28, 2020
Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri LankaMaheshi Wijayabandara, Champika Gamakaranage, Dineshani Hettiarachchi
Case Reports in Genetics|December 10, 2020
Corrigendum to "Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review"Jamie H Choi, Rachel Li, Rachel Gannaway, et al.
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