Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Giacomo Maria Bacci

13PUBLICATIONS

108CO-AUTHORS

NeurogeneticsInfant and child healthGene mappingCellular nervous systemEpigenetics (incl. genome methylation and epigenomics)

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (13)

Sort by Publication Date:

|Mar 05, 2025

Genotype-phenotype relationship in <i>RDH12</i> retinopathy: a perspective from a pediatric age group.

Giacomo Maria Bacci, Pina Fortunato, Silvia Cestaro

|Jan 07, 2025

Phosphoribosyl pyrophosphate synthetase 1 (<i>PRPS1</i>) associated retinal degeneration: an international study.

Ogul E Uner, Radwa Elsharawi, Margaret Reynolds

|Jul 31, 2024

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Hélène Dollfus, Marc R Lilien, Pietro Maffei

|Apr 25, 2024

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati

|Apr 09, 2024

Broadening the ocular phenotypic spectrum of ultra-rare <i>BRPF1</i> variants: report of two cases.

Elisa Marziali, Samuela Landini, Erika Fiorentini

|Oct 28, 2023

The New Era of Therapeutic Strategies for the Treatment of Retinitis Pigmentosa: A Narrative Review of Pathomolecular Mechanisms for the Development of Cell-Based Therapies.

Valentina Becherucci, Giacomo Maria Bacci, Elisa Marziali

Pageof 3

Frequent Collaborators

6 joint publications

Elisa Marziali

4 joint publications

Roberto Caputo

3 joint publications

Lucia Tiberi

3 joint publications

Sara Bargiacchi

2 joint publications

Camilla Rocca

2 joint publications

Rosangela Artuso

2 joint publications

Pina Fortunato

2 joint publications

Samuela Landini

1 joint publications

Hélène Dollfus

1 joint publications

Jean Muller

Frequent Collaborators

6 joint publications

Elisa Marziali

4 joint publications

Roberto Caputo

3 joint publications

Lucia Tiberi

3 joint publications

Sara Bargiacchi

Top Related Videos

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on : Jul 14, 2016

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Published on : Dec 12, 2014

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on : Mar 23, 2022

See more related videos

Top Related Videos

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on : Jul 14, 2016

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Published on : Dec 12, 2014

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on : Mar 23, 2022

See more related videos