Leiden University Scholarly Publications

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(1 - 7 of 7)

: Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants

: Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt

: Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships

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

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

: Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1

: History and highlights of the teratological collection in the Museum Anatomicum of Leiden University, The Netherlands