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المؤلفون: Anthony P. Williams, Martin W. Laass, Paul Fockens, Alexander P.A. Stegmann, Chantal Kerkhofs, Han G. Brunner, William Rae, Rune Østern, Freddy Kokke, Servi J. C. Stevens, Saul N. Faust, Christiane Würfel, Peter Wurm
المساهمون: MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9), Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, Gastroenterology and Hepatology, AGEM - Digestive immunity, AGEM - Re-generation and cancer of the digestive system
المصدر: Human Mutation, 41, 1, pp. 196-202
Human Mutation, 41, 196-202
Human Mutation
Human Mutation, 41(1), 196-202. Wiley
Human mutation, 41(1), 196-202. Wiley-Liss Inc.مصطلحات موضوعية: Male, Candidate gene, Pathology, Organogenesis, homeobox gene, whole-exome sequencing, Intestinal varices, Genetics (clinical), Exome sequencing, Research Articles, IDIOPATHIC COLONIC VARICES, Sanger sequencing, 0303 health sciences, 030305 genetics & heredity, Pedigree, Intestines, medicine.anatomical_structure, symbols, Female, whole‐exome sequencing, medicine.symptom, NKX2-3, NKX2‐3, Research Article, Ribosomal Proteins, Asplenia, medicine.medical_specialty, Nonsense mutation, asplenia, Spleen, Biology, FAMILIAL VARICES, Receptors, Laminin, 03 medical and health sciences, symbols.namesake, intestinal varices, All institutes and research themes of the Radboud University Medical Center, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Association Studies, 030304 developmental biology, CONGENITAL ASPLENIA, Homeodomain Proteins, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetic Variation, TRANSCRIPTION FACTOR NKX2-3, Sequence Analysis, DNA, medicine.disease, RPSA, MICE, Mutation, Blood Vessels, Transcription Factors
وصف الملف: application/pdf; text
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المؤلفون: Fermín Sánchez de Medina, Seema Khurana, Chung Ming Tse, Freddy Kokke, Joellyn M. Bowser, Louktje Wormmeester, Mark Donowitz, Michael Cohen
المصدر: American Journal of Physiology-Cell Physiology. 274:C1261-C1272
مصطلحات موضوعية: Male, Sodium-Hydrogen Exchangers, Brush border, Physiology, Sodium, chemistry.chemical_element, Ileum, Guanidines, Methylprednisolone, Cell Line, Cricetulus, Cricetinae, medicine, Animals, Sulfones, Glucocorticoids, Ion transporter, Sequence Tagged Sites, Chromatography, Lagomorpha, Microvilli, Ion exchange, biology, Sodium-Hydrogen Exchanger 3, Cell Biology, Fibroblasts, biology.organism_classification, Jejunum, medicine.anatomical_structure, chemistry, Rabbits, Digestion, Quantitative analysis (chemistry), Nuclear chemistry
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d20dd488caf90720945371a4bcd623df
https://doi.org/10.1152/ajpcell.1998.274.5.c1261
