Skip to content
Log in
Sponsored Design Multi-Agent AI Systems Using MCP and A2A: Engineer your own Pyt Design Multi-Agent AI Systems Using MCP and A2A: Engineer your own Pyt

Author

Robert Śmigiel

h-index 1 View on Semantic Scholar

We have 3 of 31 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Case report Open access Sep 2026

Motor, Postural, and Communicative Phenotype in SHQ1-Related Neurodevelopmental Disorder with Dystonia and Seizures: An Interdisciplinary Case Report and Hypothesis-Generating Physiotherapy Framework

Background: Biallelic variants in SHQ1 (SHQ1 homolog; H/ACA small nucleolar ribonucleoprotein assembly factor) cause neurodevelopmental disorder with dystonia and seizures (NEDDS), but descriptions of spontaneous motor organization, functional communication, and rehabilitation-relevant abilities remain limited. Case: W...

Artur Polczyk, Natalia Banaszek-Hurła, Ewelina Wolańska et al. · 0 citations
Case report Open access Sep 2026

Clinical, Neuroimaging, and Molecular Characterization of a Juvenile PLAN-like Phenotype in Two Siblings Carrying p.Arg645Gln and an Unresolved Exon 4–7 Copy-Number Gain: A Case Report

These related cases provide a descriptive account of a juvenile PLAN-like phenotype, without independently attributing the phenotype to p.Arg645Gln, establishing variant pathogenicity or a specific genotype–phenotype correlation.

Małgorzata Janeczko-Czarnecka, Maciej Gręda, Dorota Cichosz et al. · 0 citations
Open access Jul 2026

TANGO2-related metabolic encephalopathy–arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report

A case of a child with confirmed 22q11.2 deletion syndrome in whom a coexisting variant in the TANGO2 gene was diagnosed at the age of 5 after first metabolic crisis with rhabdomyolysis, demonstrating that exome sequencing should be pursued early when atypical features emerge in patients with established genetic diagno...

Ewa Grzywna-Rozenek, Ł. Sędek, M. Rydzanicz et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.