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Molecular and Cellular Endocrinology|April 10, 2024
Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndromeSoumia Brakta, Quansheng Du, Lynn P Chorich, et al.Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine|November 4, 2018
PET Imaging of PARP Expression Using 18F-OlaparibThomas C Wilson, Mary-Ann Xavier, James Knight, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2026
Optimizing Next Generation Sequencing for Genetic Diagnosis in Autosomal Dominant Polycystic Kidney DiseaseDeqiong Ma, Soyoung Cho, Xinmiao Meng, et al.Human Genetics|January 20, 2021
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser SyndromeSasha Mikhael, Sonal Dugar, Madison Morton, et al.American Journal of Medical Genetics. Part A|October 8, 2021
D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemiaKelly M Werner, Allison J Cox, Emily Qian, et al.Journal of Immunology (Baltimore, Md. : 1950)|February 1, 2023
HERV1-env Induces Unfolded Protein Response Activation in Autoimmune Liver Disease: A Potential Mechanism for Regulatory T Cell DysfunctionKumar Subramanian, Saikat Paul, Andrew Libby, et al.BMC Genomics|January 20, 2017
An improved genome assembly uncovers prolific tandem repeats in Atlantic codOle K Tørresen, Bastiaan Star, Sissel Jentoft, et al.Biorxiv : the Preprint Server for Biology|November 28, 2023
Loss of cis-PTase function in the liver promotes a highly penetrant form of fatty liver disease that rapidly transitions to hepatocellular carcinomaAbhishek K Singh, Balkrishna Chaube, Kathryn M Citrin, et al.The Journal of Clinical Investigation|September 2, 2017
Isolated polycystic liver disease genes define effectors of polycystin-1 functionWhitney Besse, Ke Dong, Jungmin Choi, et al.The Journal of Clinical Investigation|April 5, 2017
Isolated polycystic liver disease genes define effectors of polycystin-1 functionWhitney Besse, Ke Dong, Jungmin Choi, et al.Pageof 9