Leiden University Scholarly Publications

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: Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family

: Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1–2-year-old children

: Further delineation of phenotypic spectrum of SCN2A-related disorder

: ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

: Early developmental impact of sex chromosome trisomies on attention deficit-hyperactivity disorder symptomology in young children

: Heterozygous variants in SPTBN1 cause intellectual disability and autism

: Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

: Social management training in males with 47,XXY (Klinefelter syndrome)

: Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

: TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy

: TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy

: GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum

: Ellis-van Creveld syndrome in a patient from Tanzania

: First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations

: Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome

: Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome

: Phenotypes and genotypes in individuals with SMC1A variants

: A De Novo Missense Mutation in the Inositol 1,4, 5-Triphosphate Receptor Type 1 Gene Causing Severe Pontine and Cerebellar Hypoplasia: Expanding the Phenotype of ITPR1-Related Spinocerebellar Ataxia's

: Hypomorphic MKS1 Mutation in a Pakistani Family with Mild Joubert Syndrome and Atypical Features: Expanding the Phenotypic Spectrum of MKS1-Related Ciliopathies

: Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations

: CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype

: Copy number variants including RAS pathway genesHow much RASopathy is in the phenotype?

: Clinical and Molecular Characterization of an Infant with a Tandem Duplication and Deletion of 19p13

: Refinement of Genotype-Phenotype Correlation in 18 Patients Carrying a 1q24q25 Deletion

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