Marco Crimi

Via Andrea Moretti
Bergamo, 24121, Italy

Last Updated: 09/26/2026

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Found 15 publications

IgG Glycosylation Analysis in Patients with Ring14 Syndrome Unveils Novel Pathomechanisms and New Therapy Perspectives.

IgG Glycosylation Analysis in Patients with Ring14 Syndrome Unveils Novel Pathomechanisms and New Therapy Perspectives.

Journal: Biomolecules

Published: April 01, 2026

Transforming clinical trials in rare genetic diseases through telemedicine.

Transforming clinical trials in rare genetic diseases through telemedicine.

Journal: Journal of community genetics

Published: June 20, 2025

Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force.

Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force.

Journal: Therapeutic advances in rare disease

Published: June 20, 2025

Preparing hospitals and health organizations for AI: practical guidelines for the required infrastructure.

Preparing hospitals and health organizations for AI: practical guidelines for the required infrastructure.

Journal: Frontiers in digital health

Published: April 02, 2025

Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force.

Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force.

Journal: European journal of medical genetics

Published: March 11, 2024

The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.

The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.

Journal: HGG advances

Published: October 03, 2022

Genome access and other web-based IT solutions: Genetic counseling in the digital era.

Genome access and other web-based IT solutions: Genetic counseling in the digital era.

Journal: Frontiers in public health

Published: September 08, 2022

The genetic counseling in a patient affected by congenital polyneuropathy after a "diagnostic odyssey" recently solved with WES approach.

The genetic counseling in a patient affected by congenital polyneuropathy after a "diagnostic odyssey" recently solved with WES approach.

Journal: European journal of translational myology

Published: January 10, 2022

Building awareness on genetic counselling: the launch of Italian Association of Genetic Counsellors (AIGeCo).

Building awareness on genetic counselling: the launch of Italian Association of Genetic Counsellors (AIGeCo).

Journal: Journal of community genetics

Published: August 19, 2020

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).

Journal: Orphanet journal of rare diseases

Published: April 27, 2020

Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey.

Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey.

Journal: Orphanet journal of rare diseases

Published: May 21, 2019

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

Journal: Orphanet journal of rare diseases

Published: January 05, 2017

Showing 1-12 of 15

Last Updated: 09/26/2026