المؤلفون: Rock, Nathalie M, Demaret, Tanguy, Stéphenne, Xavier, Scheers, Isabelle, Smets, Francoise, McLin, Valérie A, Boschi, Antonella, Sokal, Etienne M

المصدر: Journal of Pediatric Gastroenterology and Nutrition, 71 (5), 655-662 (2020)

مصطلحات موضوعية: Child, Humans, Alagille Syndrome/complications, Alagille Syndrome/diagnosis, Eye Diseases, Hereditary/complications, Eye Diseases, Hereditary/diagnosis, Intracranial Hypertension/complications, Intracranial Hypertension/diagnosis, Optic Nerve Diseases, Papilledema/etiology, Alagille Syndrome, Eye Diseases, Hereditary, Intracranial Hypertension, Papilledema, Pediatrics, Perinatology and Child Health, Gastroenterology, Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie

العلاقة: https://journals.lww.com/10.1097/MPG.0000000000002883Test; urn:issn:0277-2116; urn:issn:1536-4801

الوصول الحر: https://orbi.uliege.be/handle/2268/291350Test

المؤلفون: Gallon, Richard, Phelps, Rachel, Hayes, Christine, Brugieres, Laurence, Guerrini-Rousseau, Léa, Colas, Chrystelle, Muleris, Martine, Ryan, Neil A J, Evans, D Gareth, Grice, Hannah, Jessop, Emily, Kunzemann-Martinez, Annabel, Marshall, Lilla, Schamschula, Esther, Oberhuber, Klaus, Azizi, Amedeo A, Baris Feldman, Hagit, Beilken, Andreas, Brauer, Nina, Brozou, Triantafyllia, Dahan, Karin, Demirsoy, Ugur, Florkin, Benoit, Foulkes, William, Januszkiewicz-Lewandowska, Danuta, Jones, Kristi J, Kratz, Christian P, Lobitz, Stephan, Meade, Julia, Nathrath, Michaela, Pander, Hans-Jürgen, Perne, Claudia, Ragab, Iman, Ripperger, Tim, Rosenbaum, Thorsten, Rueda, Daniel, Sarosiek, Tomasz, Sehested, Astrid, Spier, Isabel, Suerink, Manon, Zimmermann, Stefanie-Yvonne, Zschocke, Johannes, Borthwick, Gillian M, Wimmer, Katharina, Burn, John, Jackson, Michael S, Santibanez-Koref, Mauro

المصدر: Gastroenterology, 164 (4), 579 - 592.e8 (2023)

مصطلحات موضوعية: Constitutional Mutation Burden, Functional Test, Pediatric Cancer, Replication Error Repair, Mismatch Repair Endonuclease PMS2, Humans, Microsatellite Instability, Genotype, DNA Mismatch Repair/genetics, Mismatch Repair Endonuclease PMS2/genetics, Colorectal Neoplasms, Hereditary Nonpolyposis/genetics, Neoplastic Syndromes, Hereditary/diagnosis, Neoplastic Syndromes, Hereditary/genetics, Colorectal Neoplasms/genetics, Colorectal Neoplasms/diagnosis, Brain Neoplasms/diagnosis, Brain Neoplasms, Colorectal Neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mismatch Repair, Neoplastic Syndromes, Hereditary, Hepatology, Gastroenterology, Life sciences, Genetics & genetic processes, Human health sciences, Pediatrics, Oncology, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Pédiatrie, Oncologie

العلاقة: https://api.elsevier.com/content/article/PII:S0016508522014445?httpAccept=text/xmlTest; urn:issn:0016-5085; urn:issn:1528-0012

الوصول الحر: https://orbi.uliege.be/handle/2268/314387Test

المؤلفون: Delanaye, Pierre, Nikkels, Arjen, Martalo, O., Dechenne, Charles, Arrese Estrada, Jorge, Rorive, Georges, Pierard, Gérald

المصدر: Revue Médicale de Liège, 57(10), 670-1. Belgium (2002).

مصطلحات موضوعية: Biopsy, Chromosomes, Human, X/genetics, Collagen Type IV/genetics, Diagnosis, Differential, Female, Humans, Immunohistochemistry, Nephritis, Hereditary/diagnosis, Skin Diseases/etiology/pathology, Human health sciences :: Dermatology, Sciences de la santé humaine :: Dermatologie

الوصول الحر: https://orbi.uliege.be/handle/2268/11906Test