Last Updated: 09/26/2026
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Found 38 publications
The 9th International RASopathies Symposium.
Journal: American journal of medical genetics. Part A
Published: February 25, 2026
Cardiofaciocutaneous syndrome type 4: A comprehensive review of the MAP2K2-related clinical features, diagnostics, and management.
Journal: Advances in clinical and experimental medicine : official organ Wroclaw Medical University
Published: December 20, 2025
Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy.
Journal: Annals of clinical and translational neurology
Published: November 26, 2025
Recognizing Cerebral Pathology in Adrenoleukodystrophy Amid the Noise.
Journal: Neurology
Published: October 29, 2025
Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies.
Journal: Therapeutic advances in rare disease
Published: July 02, 2025
Neurofilament light chain as a prognostic marker in cerebral adrenoleukodystrophy.
Journal: Brain : a journal of neurology
Published: May 01, 2025
Neurofilament light chain as a prognostic marker in cerebral adrenoleukodystrophy.
Journal: Brain : a journal of neurology
Published: May 01, 2025
Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome.
Journal: Journal of intellectual disability research : JIDR
Published: November 04, 2024
Diffusion Tensor Imaging in Boys With Adrenoleukodystrophy: Identification of Cerebral Disease and Association With Neurocognitive Outcomes.
Journal: Neurology
Published: August 16, 2024
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Journal: American journal of medical genetics. Part A
Published: October 23, 2023
Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication.
Journal: American journal of medical genetics. Part A
Published: May 28, 2023
A dimensional approach to neurodevelopmental differences in genetically well-defined populations: What's next?
Journal: Developmental medicine and child neurology
Published: April 20, 2023
Last Updated: 09/26/2026