Associated Papers
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder.
Abdel-Salam GMH et al.
Journal of Human Genetics, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients.
Mosallaei M et al.
Molecular Genetics & Genomic Medicine, 2022
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE et al.
Brain : a Journal of Neurology, 2020
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