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Molecular Cytogenetics|October 8, 2015
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosisJoseph T Alaimo, Sureni V Mullegama, Mary Ann Thomas, et al.Ground Water|February 5, 2009
Distinguishing iron-reducing from sulfate-reducing conditionsFrancis H Chapelle, Paul M Bradley, Mary Ann Thomas, et al.The Journal of Pediatrics|June 2, 2023
Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance SystemMary Ann Thomas, Tanya Bedard, Susan Crawford, et al.Pediatrics|January 22, 2014
Asymptomatic tonsillar herniation in a neonate with cleidocranial dysplasiaKenneth A Myers, Mary Ann Thomas, Xing-Chang Wei, et al.American Journal of Medical Genetics. Part A|January 7, 2004
Lissencephaly with der(17)t(17;20)(p13.3;p12.2)matMary Ann Thomas, Alessandra M V Duncan, Claudette Bardin, et al.Journal of Registry Management|May 20, 2016
Copy Number Variants and Congenital Anomalies Surveillance: A Suggested Coding Strategy Using the Royal College of Paediatrics and Child Health Version of ICD-10Tanya Bedard, R Brian Lowry, Barbara Sibbald, et al.Prenatal Diagnosis|March 23, 2024
Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathiesMolly Jackson, Mary Ann Thomas, Ian Suchet, et al.American Journal of Medical Genetics. Part A|September 7, 2020
Prevalence rates study of selected isolated non-Mendelian congenital anomalies in the Hutterite population of Alberta, 1980-2016R Brian Lowry, Tanya Bedard, Susan Crawford, et al.Birth Defects Research|November 13, 2021
Parietal bone agenesis and athelia in retinoic acid embryopathy: An expansion of the phenotypeXiao-Ru Yang, James R Wright, Weiming Yu, et al.Clinical Dysmorphology|August 21, 2021
Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicismEliza A Phillips, Oana Caluseriu, Kamilla Schlade-Bartusiak, et al.Pageof 5