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Last Updated: 01/07/2026
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Found 147 publications
From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome.
Journal: Children (Basel, Switzerland)
Published: September 25, 2025
Tatton-Brown-Rahman-Syndrome-associated DNMT3A mutations de-repress cortical interneuron differentiation to disrupt neuronal network function.
Journal: bioRxiv : the preprint server for biology
Published: July 16, 2025
Genetic defects in Braunvieh cattle of Switzerland - an overview
Journal: Schweizer Archiv fur Tierheilkunde
Published: February 13, 2025
Genetic defects in Braunvieh cattle of Switzerland - an overview
Journal: Schweizer Archiv fur Tierheilkunde
Published: February 13, 2025
Dominant-negative effects of Weaver syndrome-associated EZH2 variants.
Journal: Genes & development
Published: May 06, 2024
Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management.
Journal: Birth defects research
Published: February 23, 2024
Delayed diagnosis of cervical myelopathy in an adult with Weaver syndrome.
Journal: PM & R : the journal of injury, function, and rehabilitation
Published: February 06, 2024
Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.
Journal: American journal of medical genetics. Part A
Published: December 30, 2023
Clinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene.
Journal: Clinics and practice
Published: December 11, 2023
Last Updated: 01/07/2026