Maria L. Dentici

Rome, 00165, Italy

Last Updated: 09/26/2026

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Found 112 publications

Multisystemic Assessment in Andersen-Tawil Syndrome: Report of Eighteen Individuals.

Multisystemic Assessment in Andersen-Tawil Syndrome: Report of Eighteen Individuals.

Journal: Diagnostics (Basel, Switzerland)

Published: April 27, 2026

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Journal: European journal of human genetics : EJHG

Published: September 23, 2025

Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders.

Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders.

Journal: Genes

Published: July 24, 2025

Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities.

Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities.

Journal: Frontiers in genetics

Published: June 15, 2025

Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.

Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.

Journal: Clinical genetics

Published: April 01, 2025

Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.

Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.

Journal: Neuropediatrics

Published: February 06, 2025

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: January 22, 2025

Multiple pyogenic granulomas on arteriovenous malformation associated with NRAS mutation.

Multiple pyogenic granulomas on arteriovenous malformation associated with NRAS mutation.

Journal: The Journal of dermatology

Published: January 05, 2025

MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.

MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.

Journal: American journal of medical genetics. Part A

Published: November 11, 2024

Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Journal: Orphanet journal of rare diseases

Published: October 07, 2024

Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.

Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.

Journal: European journal of medical genetics

Published: August 30, 2024

AUTS2-related syndrome: Insights from a large European cohort.

AUTS2-related syndrome: Insights from a large European cohort.

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

Published: July 28, 2024

Showing 1-12 of 112

Last Updated: 09/26/2026