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1Academic Journal
المؤلفون: Ema Bogdanic, Thomas Müller, Peter Heinz‐Erian, Dorota Garczarczyk‐Asim, Andreas R. Janecke, Aline Rückel
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 8, Pp n/a-n/a (2022)
مصطلحات موضوعية: compound heterozygous, CSD, NHE3, parenteral nutrition, SLC9A3, urinary sodium, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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2Academic Journal
المؤلفون: Christian Niederwanger, Silvia Lechner, Lisa König, Andreas R. Janecke, Claus Pototschnig, Beatrice Häussler, Sabine Scholl-Bürgi, Thomas Müller, Peter Heinz-Erian
المصدر: European Journal of Medical Research, Vol 23, Iss 1, Pp 1-7 (2018)
مصطلحات موضوعية: Isolated atresia, Gut, Choanae, Serine protease inhibitor type 2, SPINT2 splice mutation, Medicine
وصف الملف: electronic resource
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3
المؤلفون: Andreas R. Janecke, Georg F. Vogel, Thomas Müller, Katharina M.C. Klee, Lukas A. Huber, Peter Heinz-Erian, Štefan Rosipal, Hasret Ayyıldız Civan
المصدر: Human Genetics
مصطلحات موضوعية: Diarrhea, Adaptor Protein Complex sigma Subunits, Enterocyte, Enteroendocrine cell differentiation, Adaptor Protein Complex 1, Mutation, Missense, Gene Expression, Biology, Deafness, medicine.disease_cause, Permeability, 03 medical and health sciences, Consanguinity, Gene Knockout Techniques, 0302 clinical medicine, Keratoderma, Palmoplantar, Intellectual Disability, Exome Sequencing, Genetics, medicine, Missense mutation, Claudin-3, Humans, Enteropathy, Intestinal Mucosa, Claudin, Genetics (clinical), 030304 developmental biology, Original Investigation, 0303 health sciences, Mutation, MEDNIK syndrome, Base Sequence, Ichthyosis, Genetic Complementation Test, Infant, Newborn, Infant, medicine.disease, Molecular biology, Pedigree, medicine.anatomical_structure, Zonula Occludens-1 Protein, Female, Caco-2 Cells, 030217 neurology & neurosurgery
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4Academic Journal
المؤلفون: BERNI CANANI, ROBERTO, Gianluca Terrin, Ausilia Elce, Vincenza Pezzella, Peter Heinz Erian, Annalisa Pedrolli, Chiara Centenari, AMATO, FELICE, TOMAIUOLO, ROSSELLA, CALIGNANO, ANTONIO, TRONCONE, RICCARDO, Giuseppe Castaldo
المساهمون: BERNI CANANI, Roberto, Terrin, Gianluca, Elce, Ausilia, Pezzella, Vincenza, Peter Heinz Erian, Pedrolli, Annalisa, Centenari, Chiara, Amato, Felice, Tomaiuolo, Rossella, Calignano, Antonio, Troncone, Riccardo, Castaldo, Giuseppe
مصطلحات موضوعية: Children, DRA, Mutations, Pediatrics, Short chain fatty acids, SLC26A3, SLC26A6
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000332017300001; volume:8; issue:1 ID 194; firstpage:1; lastpage:8; numberofpages:8; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11588/571610; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84890348523
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المؤلفون: Ritva Koskela, Jennifer Hollis, Frank M. Ruemmele, Giuseppe Castaldo, Lorenzo Norsa, Giusi Grimaldi, Emeline Bequet, Peter Heinz-Erian, Holm H. Uhlig, Saara Leskinen, Remi Duclaux-Loras, Simon Travis, Alain Lachaux, Roberto Berni Canani, Kaija-Leena Kolho, Astor Rodrigues, Lukasz Dembinski, Jaques Deflandre, Neil Shah, Richard K. Russell, Andreas R. Janecke, Satu Wedenoja, Jutta Köglmeier, Sibylle Koletzko
المساهمون: Norsa, Lorenzo, Berni Canani, Roberto, Duclaux-Loras, Remi, Bequet, Emeline, Köglmeier, Jutta, Russell, Richard K, Uhlig, Holm H, Travis, Simon, Hollis, Jennifer, Koletzko, Sibylle, Grimaldi, Giusi, Castaldo, Giuseppe, Rodrigues, Astor, Deflandre, Jaque, Dembinski, Lukasz, Shah, Neil, Heinz-Erian, Peter, Janecke, Andrea, Leskinen, Saara, Wedenoja, Satu, Koskela, Ritva, Lachaux, Alain, Kolho, Kaija-Leena, Ruemmele, Frank M, HUS Gynecology and Obstetrics, University of Helsinki, Department of Obstetrics and Gynecology, Clinicum, Children's Hospital, HUS Children and Adolescents
المصدر: Journal of Crohn'scolitis. 15(10)
مصطلحات موضوعية: Crohn’s disease, Male, medicine.medical_treatment, Gastroenterology, Inflammatory bowel disease, Cohort Studies, 0302 clinical medicine, Prevalence, Chloride-Bicarbonate Antiporters, Child, TUMOR-NECROSIS-FACTOR, Colectomy, 0303 health sciences, Crohn's disease, biology, General Medicine, congenital chloride diarrhoea, Ulcerative colitis, 3. Good health, Europe, Sulfate Transporters, 030211 gastroenterology & hepatology, Female, congenital chloride diarrhea, COLITIS, medicine.drug, Adult, Diarrhea, medicine.medical_specialty, Congenital chloride diarrhea, Adolescent, SLC26A3, ALKALOSIS, Vedolizumab, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, 030304 developmental biology, ulcerative colitis, MUTATIONS, business.industry, medicine.disease, Inflammatory Bowel Diseases, GENE, DRA, digestive system diseases, Infliximab, ADENOMA, MICE, 3121 General medicine, internal medicine and other clinical medicine, Mutation, biology.protein, monogenic disease, REDUCES EXPRESSION, business, Metabolism, Inborn Errors
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المؤلفون: Peter Heinz-Erian, Andreas R. Janecke, Stefanie Hofer, Yasmin Pellkofer, Roland Lanzersdorfer, Martin Henkel, Christine Kapral, Thomas Mueller
المصدر: Archives of Clinical and Medical Case Reports.
مصطلحات موضوعية: General Medicine
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7
المؤلفون: Peter Heinz-Erian, Michael Kleines, Martina Prelog, Ursula Wiedermann, Andrea Streng, Peter Gorth, Ines Zwazl, Manuela Zlamy
المصدر: Journal of Infectious Diseases. 214:546-555
مصطلحات موضوعية: Male, 0301 basic medicine, Burden of disease, Pediatrics, medicine.medical_specialty, Surveillance data, Adolescent, 030106 microbiology, Rotavirus Infections, medicine.disease_cause, Mass Vaccination, Young infants, 03 medical and health sciences, 0302 clinical medicine, Older patients, Rotavirus, medicine, Humans, Immunology and Allergy, 030212 general & internal medicine, Child, business.industry, Incidence, Infant, Newborn, Rotavirus Vaccines, Infant, Virology, Hospitalization, Vaccination, Infectious Diseases, Austria, Child, Preschool, Epidemiological Monitoring, Female, Mass vaccination, business
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8
المؤلفون: Andreas R. Janecke, Insha Rasool, Eva Mildenberger, Sandhya S. Visweswariah, Antje Ballauff, Heiko Witt, Laurent Michaud, Peter Heinz-Erian, Andreas Müller, Christian Hülstrunk, Bart G. P. Koot, Irene Fuchs, Heinz Zoller, Britt-Sabina Petersen, Štefan Rosipal, Thomas Müller, Andre Franke, Julia Vodopiutz
المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Gastroenterology
المصدر: Gut, 65(8), 1306-1313. BMJ Publishing Group
Gutمصطلحات موضوعية: Diarrhea, Male, 0301 basic medicine, medicine.medical_specialty, Receptors, Peptide, Colon, Guanylin, Guanosine Monophosphate, Mutation, Missense, Receptors, Enterotoxin, GUANYLATE CYCLASE, Biology, CHRONIC DIARRHOEA, Pathogenesis, 03 medical and health sciences, chemistry.chemical_compound, symbols.namesake, Germline mutation, Internal medicine, BACTERIAL ENTEROTOXINS, medicine, Humans, Missense mutation, Abnormalities, Multiple, Genetic Predisposition to Disease, Intestinal Mucosa, Cyclic guanosine monophosphate, Sanger sequencing, PAEDIATRIC DIARRHOEA, Sodium, Gastroenterology, Infant, Molecular Reproduction, Development & Genetics (formed by the merger of DBGL and CRBME), Molecular biology, Intestines, 030104 developmental biology, Endocrinology, Intestinal Absorption, Receptors, Guanylate Cyclase-Coupled, chemistry, INTESTINAL ION TRANSPORT, symbols, Female, Metabolism, Inborn Errors, Intracellular, Uroguanylin
وصف الملف: application/pdf
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9
المؤلفون: Silvia Lechner, Peter Heinz-Erian, Claus Pototschnig, Lisa König, Christian Niederwanger, Andreas R. Janecke, Beatrice Häussler, Sabine Scholl-Bürgi, Thomas Müller
المصدر: European Journal of Medical Research
European Journal of Medical Research, Vol 23, Iss 1, Pp 1-7 (2018)مصطلحات موضوعية: 0301 basic medicine, Adult, Diarrhea, Male, medicine.medical_specialty, Serine Proteinase Inhibitors, Serine protease inhibitor type 2, Population, lcsh:Medicine, Gene mutation, medicine.disease_cause, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Medicine, Humans, Abnormalities, Multiple, Gut, Prospective Studies, education, Prospective cohort study, Serine protease, education.field_of_study, Mutation, Membrane Glycoproteins, biology, business.industry, Research, lcsh:R, Isolated atresia, Choanae, General Medicine, medicine.disease, 030104 developmental biology, Anal atresia, SPINT2 splice mutation, Atresia, biology.protein, Female, medicine.symptom, business, 030217 neurology & neurosurgery, Metabolism, Inborn Errors
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المؤلفون: Thomas Müller, Andreas R. Janecke, Peter Heinz-Erian
مصطلحات موضوعية: 0301 basic medicine, Diarrhea, medicine.medical_specialty, Physiology, Inflammatory bowel disease, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), Internal medicine, medicine, Humans, Intensive care medicine, Letter to the Editor, business.industry, Sodium-Hydrogen Exchanger 3, Inflammatory Bowel Diseases, medicine.disease, Intestines, 030104 developmental biology, Congenital diarrhea, 030211 gastroenterology & hepatology, medicine.symptom, business
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المؤلفون: H Ulhig, Satu Wedenoja, Alain Lachaux, Giusi Grimaldi, R Duclaux Loras, Neil Shah, J Deflandre, Giuseppe Castaldo, Lorenzo Norsa, J Koeglmeier, S Leskinen, Peter Heinz-Erian, Lukasz Dembinski, R Berni Canani, Emeline Bequet, Sibylle Koletzko, Richard K Russell, Kaija-Leena Kolho, Astor Rodrigues, Andreas R. Janecke, Frank M. Ruemmele
المصدر: Journal of Crohn's and Colitis. 14:S603-S603
مصطلحات موضوعية: medicine.medical_specialty, Crohn's disease, Congenital chloride diarrhea, business.industry, medicine.medical_treatment, Gastroenterology, General Medicine, medicine.disease, Inflammatory bowel disease, Ulcerative colitis, digestive system diseases, Infliximab, 3. Good health, Ileostomy, Diarrhea, Internal medicine, medicine, medicine.symptom, business, Colectomy, medicine.drug
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المؤلفون: Riccardo Troncone, Ausilia Elce, Giuseppe Castaldo, Peter Heinz-Erian, Antonio Calignano, Roberto Berni Canani, Chiara Centenari, Vincenza Pezzella, Felice Amato, Rossella Tomaiuolo, Gianluca Terrin, Annalisa Pedrolli
المساهمون: BERNI CANANI, Roberto, Gianluca, Terrin, Ausilia, Elce, Vincenza, Pezzella, Peter Heinz, Erian, Annalisa, Pedrolli, Chiara, Centenari, Amato, Felice, Tomaiuolo, Rossella, Calignano, Antonio, Troncone, Riccardo, Giuseppe, Castaldo, Peter Heinz Erian, Castaldo, Giuseppe
المصدر: Orphanet Journal of Rare Diseases
مصطلحات موضوعية: Diarrhea, Male, medicine.medical_specialty, Malabsorption, Congenital chloride diarrhea, Adolescent, Genotype, Butyrate, SLC26A3, Pediatrics, Internal medicine, SLC26A6, medicine, Humans, Genetics(clinical), Pharmacology (medical), Chloride-Bicarbonate Antiporters, Child, Children, Genetics (clinical), Medicine(all), biology, Research, Membrane Transport Proteins, Short chain fatty acids, General Medicine, Apical membrane, medicine.disease, DRA, Solute carrier family, short chain fatty acids, pediatrics, slc26a3, slc26a6, mutations, congenital diarrhea, solute carrier family 26, dra, children, butyrate, Butyrates, Endocrinology, Sulfate Transporters, Mutation, biology.protein, medicine.symptom, Children, DRA, Mutations, Pediatrics, Short chain fatty acids, SLC26A3, SLC26A6, Metabolism, Inborn Errors, Mutations
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المؤلفون: Frank M. Ruemmele, Wolf-Dietrich Huber, Andreas Zankl, Walter A. Mihatsch, Silvia Lechner, Peter Heinz-Erian, Ekkehart Lausch, Thomas Müller, Andreas R. Janecke, Alan D. Phillips, Peter Lewindon, Uwe Querfeld
المصدر: Journal of Pediatric Gastroenterology & Nutrition. 53:48-54
مصطلحات موضوعية: Diarrhea, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Polyhydramnios, Delayed Diagnosis, Congenital chloride diarrhea, DNA Mutational Analysis, Molecular Sequence Data, Buccal swab, Mutation, Missense, Physical examination, SLC26A3, Gastroenterology, Feces, Chlorides, Internal medicine, Humans, Medicine, Missense mutation, Amino Acid Sequence, Chloride-Bicarbonate Antiporters, Child, Databases, Protein, Genetic testing, Polymorphism, Genetic, biology, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, medicine.disease, respiratory tract diseases, Molecular Diagnostic Techniques, Sulfate Transporters, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation testing, biology.protein, Female, Mutant Proteins, business, Sequence Alignment, Metabolism, Inborn Errors
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المؤلفون: Thomas Müller, Virginie Colomb, Olivier Goulet, Kristian Pfaller, Frédérique Sauvat, Lukas A. Huber, Juliette Lefebvre, Silvia Lechner, Natalia Schiefermeier, Axel Enninger, Yann Revillon, Danielle Canioni, Hannes L. Ebner, Genevieve de Saint-Basile, Jacques Schmitz, Gerd Utermann, Frank M. Ruemmele, Michael W. Hess, Peter Heinz-Erian, Cornelia E. Thöni, Andreas R. Janecke, Florence Lacaille, Nicole Brousse
المصدر: Human Mutation. 31:544-551
مصطلحات موضوعية: Male, Adolescent, Brush border, Blotting, Western, DNA Mutational Analysis, Myosin Type V, Mutation, Missense, Microvillous inclusion disease, Vacuole, Biology, medicine.disease_cause, digestive system, Malabsorption Syndromes, Myosin, Genetics, medicine, Humans, Endomembrane system, Child, Genetics (clinical), Mutation, Microvilli, Myosin Heavy Chains, Infant, medicine.disease, Microvillus, Cell biology, medicine.anatomical_structure, Biochemistry, Codon, Nonsense, Caco-2, Child, Preschool, Diarrhea, Infantile, Female, RNA Interference, Caco-2 Cells, Digestive System Abnormalities
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15
المؤلفون: Edda Haberlandt, Florian B. Lagler, Daniela Karall, Sabine Scholl-Bürgi, Claudia Ertl, Sara Baumgartner Sigl, Jörn Oliver Sass, Edda Amann, Peter Heinz-Erian, U. Albrecht, Kevin Rostasy
المصدر: Amino Acids. 38:1473-1481
مصطلحات موضوعية: Adult, Male, Aging, Propionic Acidemia, Adolescent, Arginine, Clinical Biochemistry, Biochemistry, chemistry.chemical_compound, Valine, medicine, Humans, Amino Acids, Propionic acidemia, Child, Chromatography, High Pressure Liquid, Amino acid synthesis, chemistry.chemical_classification, Methionine, Chemistry, Organic Chemistry, Infant, Ornithine, medicine.disease, Amino acid, Glutamine, Child, Preschool, Female
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16
المؤلفون: Andreas R. Janecke, Nikolaus Neu, Peter Heinz-Erian, Josef Hager, Thomas Müller, Klaus Pittschieler, Sabine Scholl-Bürgi, Michaela Oberauer
المصدر: Journal of Pediatric Gastroenterology & Nutrition. 47:363-366
مصطلحات موضوعية: Diarrhea, Pediatrics, medicine.medical_specialty, Adolescent, Congenital chloride diarrhea, media_common.quotation_subject, DNA Mutational Analysis, Nonsense mutation, Gene Expression, Genes, Recessive, SLC26A3, Antiporters, Chlorides, Internal medicine, Humans, Medicine, Chloride-Bicarbonate Antiporters, Girl, media_common, biology, business.industry, Gastroenterology, DNA, medicine.disease, Endocrinology, Codon, Nonsense, Sulfate Transporters, Pediatrics, Perinatology and Child Health, biology.protein, Female, business
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المؤلفون: Peter Heinz-Erian, Thomas Müller, Andreas R. Janecke
المصدر: Journal of pediatric gastroenterology and nutrition. 63(2)
مصطلحات موضوعية: 0301 basic medicine, Diarrhea, Genetic Markers, Pathology, medicine.medical_specialty, Enteroendocrine cell differentiation, Inflammatory bowel disease, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Intestinal mucosa, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Genetic heterogeneity, business.industry, Gastroenterology, Syndrome, medicine.disease, Inflammatory Bowel Diseases, Pathophysiology, 030104 developmental biology, Dysplasia, Pediatrics, Perinatology and Child Health, Immunology, Mutation, 030211 gastroenterology & hepatology, medicine.symptom, Differential diagnosis, business, Metabolism, Inborn Errors
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المؤلفون: Roland Staudinger, Barbara Schlenck, Fiona Carragher, Peter Heinz-Erian, Uwe Siebert, Rachel M Taylor, Thomas Müller, Stuart Tanner, Anil Dhawan, Giorgina Mieli-Vergani, Smita Koppikar, Florian Kronenberg, Peter Ferenci
المصدر: Journal of Hepatology. 47:270-276
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Urinary system, DNA Mutational Analysis, Urine, Sensitivity and Specificity, Asymptomatic, Gastroenterology, Basal (phylogenetics), Liver disease, Hepatolenticular Degeneration, Internal medicine, Humans, Medicine, Child, Chelating Agents, Hepatology, business.industry, Penicillamine, Ceruloplasmin, medicine.disease, Confidence interval, Circadian Rhythm, Surgery, Wilson's disease, Diagnostic Techniques, Digestive System, Liver, Child, Preschool, Female, medicine.symptom, business, Copper, medicine.drug
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19
المؤلفون: Peter Heinz-Erian, Sabine Scholl-Bürgi, Thomas Müller
المصدر: Kinder- und Jugendmedizin. 7:5-9
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المؤلفون: Peter Heinz-Erian, Thomas Müller, Sabine Scholl-Bürgi
المصدر: Kinder- und Jugendmedizin. 7:10-16
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