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Journal of Pediatric Endocrinology & Metabolism : JPEM|May 28, 2025
Wolcott-Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure - a case reportSelçuk Teke, Zarife Kuloğlu, Arzu Meltem Demir, et al.
The Journal of Allergy and Clinical Immunology|April 22, 2014
Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiencyElisabeth Salzer, Aydan Kansu, Heiko Sic, et al.
JCI Insight|March 24, 2025
Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndromeStephanie Waich, Karin Kreidl, Julia Vodopiutz, et al.
World Journal of Pediatrics : WJP|July 13, 2022
Pediatric dysphagia overview: best practice recommendation study by multidisciplinary expertsEbru Umay, Sibel Eyigor, Esra Giray, et al.
Frontiers in Pediatrics|February 27, 2025
Use of a specialized peptide-based enteral formula containing medium-chain triglycerides for enteral tube feeding in children with cerebral palsy and previous tube feeding intolerance on standard enteral formula: a prospective observational TolerUP studyAydan Kansu, Gunsel Kutluk, Gonul Caltepe, et al.
The Journal of Clinical Investigation|May 16, 2022
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical traffickingRémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, et al.
Journal of Clinical Medicine|February 2, 2021
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B MutationsDenise Aldrian, Georg F Vogel, Teresa K Frey, et al.
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