Maurice J. Mahoney
Medical Genetics
20 York St
Yale Children's Hospital, West Pavilion, 2nd Floor
New Haven, CT 06510
Yale Children's Hospital, West Pavilion, 2nd Floor
New Haven, CT 06510
Last Updated: 09/26/2026
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Found 7 publications
Congenital extremity anomalies with a TBX5 pathogenic variant in consecutive IVF assisted pregnancies: a case report of Holt-Oram Syndrome.
Journal: Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
Published: June 23, 2021
A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.
Journal: Frontiers in genetics
Published: July 21, 2019
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 03, 2018
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 29, 2018
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Journal: American journal of human genetics
Published: August 08, 2017
Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 19, 2013
Showing 1-7 of 7
Last Updated: 09/26/2026