Acute Liver Failure following Valproate Exposure in a Teenager with Homozygous POLG c.2243G>C (p.Trp748Ser) Mutation: Late-Onset Presentation and Successful Liver Transplantation - A Case Report.

Novel Clinical and Genetic Findings in Laurin-Sandrow Syndrome: A Case Report.

Maternally Inherited Atypical 22q11.2 Microduplication Presenting with Unilateral Microtia and Aural Atresia: A Case Report of Evidence for an Association with Severe Ear Malformations.

PHRINL Syndrome: A Case of Infantile Cataract and Cardiomyopathy

Molecular Genetic Confirmation of Jaffe-Campanacci Syndrome: A Case Report of the Third Identified Pathogenic NF1 Variant

CHOPS Syndrome: A Rare Malformation Syndrome with de novo AFF4 Gene Variant

Acute Liver Failure following Valproate Exposure in a Teenager with Homozygous POLG c.2243G>C (p.Trp748Ser) Mutation: Late-Onset Presentation and Successful Liver Transplantation - A Case Report.

Novel Clinical and Genetic Findings in Laurin-Sandrow Syndrome: A Case Report.

Maternally Inherited Atypical 22q11.2 Microduplication Presenting with Unilateral Microtia and Aural Atresia: A Case Report of Evidence for an Association with Severe Ear Malformations.

PHRINL Syndrome: A Case of Infantile Cataract and Cardiomyopathy

Molecular Genetic Confirmation of Jaffe-Campanacci Syndrome: A Case Report of the Third Identified Pathogenic NF1 Variant

CHOPS Syndrome: A Rare Malformation Syndrome with de novo AFF4 Gene Variant