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Journal of Pediatric Gastroenterology and Nutrition|September 7, 2006
Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitisAgnieszka Sobczyńska-Tomaszewska, Daniel Bak, Beata Oralewska, et al.Orphanet Journal of Rare Diseases|July 19, 2022
Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemiaAnna Repczynska, Katarzyna Julga, Jolanta Skalska-Sadowska, et al.Journal of Clinical Medicine|February 3, 2021
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis-Diagnostic and Therapeutic Challenge for CliniciansJolanta Zegarska, Ewa Wiesik-Szewczyk, Ewa Hryniewiecka, et al.Human Genetics|August 8, 2009
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping resultsRuslan Dorfman, Weili Li, Lei Sun, et al.Pageof 2