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Prenatal Diagnosis|March 7, 2009
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish familiesWendy Chang, Thomas L Winder, Charles A LeDuc, et al.Scientific Reports|March 23, 2019
Transgenic substitution with Greater Amberjack Seriola dumerili fish insulin 2 in NOD mice reduces beta cell immunogenicityKylie S Foo, Alicja A Skowronski, Danielle Baum, et al.Obesity (Silver Spring, Md.)|November 11, 2008
Functional consequences of the human leptin receptor (LEPR) Q223R transversionGeorge Stratigopoulos, Charles A LeDuc, Naoki Matsuoka, et al.JIMD Reports|October 8, 2013
Novel association of early onset hepatocellular carcinoma with transaldolase deficiencyCharles A Leduc, Elizabeth E Crouch, Ashley Wilson, et al.Journal of Medical Genetics|July 8, 2022
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanismsCecilia Sena, Grazia Iannello, Alicja A Skowronski, et al.Plos One|May 31, 2018
ILDR2 has a negligible role in hepatic steatosisElizabeth J Millings, Maria Caterina De Rosa, Sarah Fleet, et al.Neurobiology of Disease|January 20, 2009
Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2Wendy K Chung, Minyoung Shin, Thomas C Jaramillo, et al.Stem Cell Research|October 30, 2016
Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWSLisa C Burnett, Charles A LeDuc, Carlos R Sulsona, et al.Cell Metabolism|May 9, 2014
Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in miceGeorge Stratigopoulos, Jayne F Martin Carli, Diana R O'Day, et al.Obesity (Silver Spring, Md.)|December 10, 2013
Effects of a novel MC4R agonist on maintenance of reduced body weight in diet-induced obese miceAlicja A Skowronski, Michael V Morabito, Bridget R Mueller, et al.Pageof 7