Stefano G. Caraffi

Reggio Nell'emilia, 42123, Italy

Last Updated: 09/26/2026

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Found 71 publications

Phenotypic Expansion of PPP1R12A-Related Syndrome: A Novel Splicing Variant Associated with Hearing Loss and Inner Ear Malformations.

Phenotypic Expansion of PPP1R12A-Related Syndrome: A Novel Splicing Variant Associated with Hearing Loss and Inner Ear Malformations.

Journal: Genes

Published: June 11, 2026

Phenotypic Heterogeneity in Titinopathies with Peripheral Nerve Involvement in Pediatric Age: Two Case Reports.

Phenotypic Heterogeneity in Titinopathies with Peripheral Nerve Involvement in Pediatric Age: Two Case Reports.

Journal: Journal of clinical medicine

Published: March 26, 2026

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

A Boy with a Novel Variant in TCF20: An Expanded Phenotype and a Brief Review of the Literature.

A Boy with a Novel Variant in TCF20: An Expanded Phenotype and a Brief Review of the Literature.

Journal: Children (Basel, Switzerland)

Published: October 09, 2025

Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.

Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.

Journal: Neurobiology of disease

Published: September 08, 2025

Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.

Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.

Journal: American journal of medical genetics. Part A

Published: August 05, 2025

3-M syndrome: evolution of the phenotype over time.

3-M syndrome: evolution of the phenotype over time.

Journal: Italian journal of pediatrics

Published: July 18, 2025

Clinical, dermoscopic and confocal microscopy features of multiple primary melanomas according to pathogenic germline variant status: a retrospective, hospital-based study.

Clinical, dermoscopic and confocal microscopy features of multiple primary melanomas according to pathogenic germline variant status: a retrospective, hospital-based study.

Journal: Clinical and experimental dermatology

Published: May 20, 2025

Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3 : A Case Report and a Brief Review of the Literature.

Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3 : A Case Report and a Brief Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: February 17, 2025

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Journal: American journal of medical genetics. Part A

Published: December 20, 2024

Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignette.

Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignette.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: December 19, 2024

A Novel Variant in the SUOX Gene in the Oldest Individual with Late-Onset Isolated Sulfite Oxidase Deficiency.

A Novel Variant in the SUOX Gene in the Oldest Individual with Late-Onset Isolated Sulfite Oxidase Deficiency.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: December 16, 2024

Showing 1-12 of 71

Last Updated: 09/26/2026