Similar Items: MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2
- Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature
- Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination
- Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients
- Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report
- Inducible gene deletion reveals essentiality of protein kinases and a septation initiation network in Candida albicans
- Microcephaly, Epilepsy, and Diabetes Syndrome 1: A Moroccan Case Report of Novel Compound Heterozygous IER3IP1 Mutations and Literature Review