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American Journal of Medical Genetics. Part A|October 23, 2018
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletionsSarah L Dugan, Emanuele Panza, Amanda Openshaw, et al.
Molecular Genetics and Metabolism|March 14, 2008
Cardiomyopathy and carnitine deficiencyCristina Amat di San Filippo, Matthew R G Taylor, Luisa Mestroni, et al.
Headache|September 5, 2013
Maternal butalbital use and selected defects in the national birth defects prevention studyMarilyn L Browne, Alissa R Van Zutphen, Lorenzo D Botto, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|July 29, 2015
Evaluating cost and resource use associated with pulse oximetry screening for critical congenital heart disease: Empiric estimates and sources of variationMatthew R Reeder, Jaewhan Kim, Amy Nance, et al.
JIMD Reports|April 28, 2016
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase DeficiencyIrene De Biase, Krista S Viau, Aiping Liu, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|August 26, 2015
Lower rate of selected congenital heart defects with better maternal diet quality: a population-based studyLorenzo D Botto, Sergey Krikov, Suzan L Carmichael, et al.
Birth Defects Research|March 29, 2019
Risk factors associated with the development of double-inlet ventricle congenital heart diseaseSharon L Paige, Wei Yang, James R Priest, et al.
Paediatric and Perinatal Epidemiology|December 10, 2013
Self-reported maternal cigarette smoke exposure during the periconceptional period and the risk for omphalocoeleMarcia L Feldkamp, Sivithee Srisukhumbowornchai, Paul A Romitti, et al.
Neurology. Genetics|January 18, 2024
Novel <i>SLC13A3</i> Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature ReviewKristen N Wong, Lorenzo D Botto, Miao He, et al.
American Journal of Obstetrics and Gynecology|March 15, 2011
Maternal nutrition and gastroschisis: findings from the National Birth Defects Prevention StudyMarcia L Feldkamp, Suzan L Carmichael, Gary M Shaw, et al.
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