Associated Papers
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.
Minniti ML et al.
American Journal of Medical Genetics. Part A, 2024
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › MAOA_Short_VarPathogenetic
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D et al.
Human Mutation, 2015
26350204 (PubMed )
Supplement: HUMU-36-1197-s001.pdf
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