Maria G. Giuffrida

San Giovanni Rotondo, 71013, Italy

Last Updated: 09/26/2026

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Found 22 publications

Armelline Almond Allergy: The First Reported Case.

Armelline Almond Allergy: The First Reported Case.

Journal: Journal of investigational allergology & clinical immunology

Published: December 05, 2024

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

2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.

2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.

Journal: European journal of human genetics : EJHG

Published: October 02, 2022

3'UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male Fetus.

3'UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male Fetus.

Journal: Diagnostics (Basel, Switzerland)

Published: August 12, 2022

Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.

Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.

Journal: Diagnostics (Basel, Switzerland)

Published: April 30, 2022

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Journal: American journal of medical genetics. Part A

Published: March 01, 2022

Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene.

Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene.

Journal: European journal of obstetrics, gynecology, and reproductive biology

Published: February 15, 2022

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.

Journal: Human genetics

Published: June 28, 2021

Occurrence of chronic myeloid leukemia in a patient with CDC73 gene deletion: "Chance or Causality?"

Occurrence of chronic myeloid leukemia in a patient with CDC73 gene deletion: "Chance or Causality?"

Journal: International journal of laboratory hematology

Published: March 19, 2021

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Journal: Clinical genetics

Published: February 10, 2021

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

Journal: American journal of medical genetics. Part A

Published: March 20, 2020

De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies.

De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies.

Journal: Journal of pediatric genetics

Published: February 14, 2020

Showing 1-12 of 22

Last Updated: 09/26/2026