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Clinical Genetics|January 2, 2025
Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra SyndromeZoë J Frazier, Seyda Kilic, Hailey Osika, et al.
Journal of Pediatric Gastroenterology and Nutrition|January 31, 2023
Fecal Microbiota Transplantation for Clostridioides difficile Infection in Immunocompromised Pediatric PatientsKatie R Conover, Imad Absah, Sonia Ballal, et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association|April 23, 2019
Efficacy of Fecal Microbiota Transplantation for Clostridium difficile Infection in ChildrenMaribeth R Nicholson, Paul D Mitchell, Erin Alexander, et al.
Journal of Crohn'S & Colitis|November 17, 2021
Efficacy and Outcomes of Faecal Microbiota Transplantation for Recurrent Clostridioides difficile Infection in Children with Inflammatory Bowel DiseaseMaribeth R Nicholson, Erin Alexander, Sonia Ballal, et al.
Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Medrxiv : the Preprint Server for Health Sciences|March 11, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorderPhilip M Boone, Serkan Erdin, Abucar Mohamed, et al.
American Journal of Human Genetics|July 10, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorderPhilip M Boone, Serkan Erdin, Abucar Mohamed, et al.
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