Last Updated: 09/26/2026
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Found 59 publications
Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.
Journal: American journal of medical genetics. Part A
Published: April 29, 2026
Shared autonomic phenotype of long COVID and myalgic encephalomyelitis/chronic fatigue syndrome.
Journal: PloS one
Published: February 26, 2025
Probing the Shell Effects on Fission: The New Superheavy Nucleus ^{257}Sg.
Journal: Physical review letters
Published: February 12, 2025
Hypermobile Ehlers-Danlos Syndrome: Cerebrovascular, Autonomic and Neuropathic Features.
Journal: American journal of medicine open
Published: November 14, 2024
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Journal: Nature communications
Published: November 11, 2024
Stepping into the Sea of Instability: The New Sub-μs Superheavy Nucleus ^{252}Rf.
Journal: Physical review letters
Published: May 27, 2024
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Journal: bioRxiv : the preprint server for biology
Published: February 26, 2024
High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases.
Journal: The Journal of clinical investigation
Published: October 24, 2023
Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion.
Journal: Genetics in medicine open
Published: August 28, 2023
Low-frequency inherited complement receptor variants are associated with purpura fulminans.
Journal: Blood
Published: May 17, 2023
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Journal: Human molecular genetics
Published: March 30, 2023
Last Updated: 09/26/2026