Gabriele Trimarchi

Reggio Nell'emilia, Italy

Last Updated: 09/26/2026

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Found 16 publications

Hydranencephaly Secondary to Placental Fetal Vascular Malperfusion in a Pregnancy with Extensive Uterine Fibromatosis.

Hydranencephaly Secondary to Placental Fetal Vascular Malperfusion in a Pregnancy with Extensive Uterine Fibromatosis.

Journal: Fetal and pediatric pathology

Published: July 28, 2026

Feeding-Triggered Seizures in a Newborn with AP1S1-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare Disease.

Feeding-Triggered Seizures in a Newborn with AP1S1-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare Disease.

Journal: Journal of clinical medicine

Published: October 29, 2025

White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.

White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.

Journal: Clinical genetics

Published: May 15, 2025

Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.

Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.

Journal: BMC medical genomics

Published: October 12, 2023

Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.

Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.

Journal: Cerebellum (London, England)

Published: October 05, 2023

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Journal: Molecular genetics & genomic medicine

Published: August 03, 2023

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.

Journal: Genes

Published: June 30, 2023

Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.

Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.

Journal: Frontiers in neurology

Published: April 17, 2023

ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.

ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.

Journal: Journal of inherited metabolic disease

Published: February 07, 2022

A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.

A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.

Journal: American journal of medical genetics. Part A

Published: June 28, 2021

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.

Journal: Genes

Published: May 25, 2021

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.

Journal: Genes

Published: May 24, 2021

Showing 1-12 of 16

Last Updated: 09/26/2026