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Abbreviation : DDD
Long Form : Deciphering Developmental Disorders
No. Year Title Co-occurring Abbreviation
2019 MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. CDG, ID, IEF
2019 Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature. ---
2018 SET de novo frameshift variants associated with developmental delay and intellectual disabilities. ID/DD, SET
2017 Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. GPI
2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. ---
2017 De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. EBF3
2017 Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. CdLS
2017 Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. ExAC
2016 Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly. GEF
10  2016 Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study. DSD
11  2015 De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. DNM, ID
12  2015 Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. ---
13  2011 The Deciphering Developmental Disorders (DDD) study. ---