Associated Papers
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study.
Duclaux-Loras R et al.
Clinical and Translational Gastroenterology, 2018
Whole genome sequencing identifies etiology of recurrent male intrauterine fetal death.
Shehab O et al.
Prenatal Diagnosis, 2017
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.
Louie RJ et al.
American Journal of Medical Genetics. Part A, 2017
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and recurrent intrauterine fetal death.
Vasiljevic A et al.
Lancet (london, England), 2015
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