Giorgio Gimelli

Genoa, Italy

Last Updated: 09/26/2026

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Found 35 publications

Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.

Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.

Journal: Cytogenetic and genome research

Published: September 07, 2021

Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.

Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.

Journal: Journal of genetics

Published: March 12, 2021

17q23.3 de novo microdeletion involving only TANC2 gene: A new case.

17q23.3 de novo microdeletion involving only TANC2 gene: A new case.

Journal: European journal of medical genetics

Published: May 27, 2020

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.

Journal: Journal of genetics

Published: June 18, 2019

1p31.1 microdeletion including only NEGR1 gene in two patients.

1p31.1 microdeletion including only NEGR1 gene in two patients.

Journal: European journal of medical genetics

Published: August 06, 2018

Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations.

Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations.

Journal: Cytogenetic and genome research

Published: May 11, 2018

Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity.

Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity.

Journal: Cytogenetic and genome research

Published: March 21, 2018

3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.

3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.

Journal: European journal of medical genetics

Published: July 10, 2017

Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.

Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.

Journal: Cytogenetic and genome research

Published: March 31, 2017

Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature.

Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature.

Journal: Molecular cytogenetics

Published: June 09, 2016

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

Journal: American journal of human genetics

Published: February 29, 2016

Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.

Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.

Journal: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology

Published: November 18, 2015

Showing 1-12 of 35

Last Updated: 09/26/2026