Marie T. Greally
Dublin, L, Ireland
Last Updated: 09/26/2026
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Found 11 publications
Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.
Journal: Molecular genetics & genomic medicine
Published: April 28, 2024
Germline mosaicism in a family with MBD5 haploinsufficiency.
Journal: Cold Spring Harbor molecular case studies
Published: October 13, 2022
Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.
Journal: American journal of medical genetics. Part A
Published: May 23, 2022
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.
Journal: European journal of human genetics : EJHG
Published: August 06, 2019
Development of a genomics module within an epilepsy-specific electronic health record: Toward genomic medicine in epilepsy care.
Journal: Epilepsia
Published: October 31, 2018
De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay.
Journal: American journal of medical genetics. Part A
Published: April 03, 2014
Chromosome 22q11.21 microduplication in association with hypoplastic left heart syndrome with hypoplastic pulmonary arteries.
Journal: Cardiology in the young
Published: January 24, 2014
De novo interstitial deletion 2q14.1q22.1: is there a recognizable phenotype?
Journal: American journal of medical genetics. Part A
Published: November 05, 2013
Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.
Journal: American journal of medical genetics. Part A
Published: June 25, 2013
Showing 1-11 of 11
Last Updated: 09/26/2026