Milena Mariani

Como, Italy

Last Updated: 09/26/2026

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Found 48 publications

Lithium ameliorates neural differentiation restoring cell death balance in Cornelia de Lange syndrome 2D and 3D models.

Lithium ameliorates neural differentiation restoring cell death balance in Cornelia de Lange syndrome 2D and 3D models.

Journal: Cell death discovery

Published: December 17, 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

35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

Journal: American journal of medical genetics. Part A

Published: July 14, 2025

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Journal: Genetics in medicine open

Published: May 05, 2025

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Journal: Neurology. Genetics

Published: March 20, 2025

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition.

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition.

Journal: American journal of medical genetics. Part A

Published: October 09, 2024

Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences.

Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences.

Journal: Orphanet journal of rare diseases

Published: June 28, 2024

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 09, 2024

SMC1A epilepsy syndrome: clinical data from a large international cohort.

SMC1A epilepsy syndrome: clinical data from a large international cohort.

Journal: American journal of medical genetics. Part A

Published: November 04, 2023

Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectives.

Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectives.

Journal: American journal of medical genetics. Part A

Published: August 28, 2023

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Journal: Molecular genetics & genomic medicine

Published: June 04, 2023

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.

Journal: International journal of molecular sciences

Published: April 14, 2022

Showing 1-12 of 48

Last Updated: 09/26/2026