Disease: Microcephaly seizures mental retardation heart disorders
- <em>SETD2</em> Neurodevelopmental Disorders
- Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman
- Clinical and molecular characterization of de novo loss of function variants in HNRNPU
- Clinical characterization of individuals with the distal 1q21.1 microdeletion
- Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
- Congenital Cytomegalovirus Infection - Lessons from a Clinical Case
- De novo 8p23.1 deletion in a patient with absence epilepsy
- De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
- Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
- Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome
- Kleefstra Syndrome: The First Case Report From Iran
- Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders
- Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and <em>SMARCA2</em> gene deletion
- Nine newly identified individuals refine the phenotype associated with MYT1L mutations
- Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome
- PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation
- SETD2 Neurodevelopmental Disorders
- Smith-Lemli-Opitz Syndrome
- Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome