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

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/abe857343c2340fabcc0ee7b0409e3c3Test

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

العلاقة: http://link.springer.com/article/10.1186/s40001-018-0312-2Test; https://doaj.org/toc/2047-783XTest

الوصول الحر: https://doaj.org/article/38d8230b09884d9ba47edda35c9ed5a4Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b5db2ba0341b1f15e281275f2eafbb3Test
http://europepmc.org/articles/PMC7497319Test

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, Gianluca, Terrin, Ausilia, Elce, Vincenza, Pezzella, Peter Heinz Erian, Annalisa, Pedrolli, Chiara, Centenari, Amato, Felice, Tomaiuolo, Rossella, Calignano, Antonio, Troncone, Riccardo, Castaldo, Giuseppe

مصطلحات موضوعية: Children, DRA, Mutations, Pediatrics, Short chain fatty acids, SLC26A3, SLC26A6

العلاقة: 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/11588/571610Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84890348523

الإتاحة: https://doi.org/10.1186/1750-1172-8-194Test
http://hdl.handle.net/11588/571610Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::574f816a2d1a4fa078cef8ea18b48733Test
https://pubmed.ncbi.nlm.nih.gov/33770165Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6b023b90ec8b8b571c7fcb1499558af8Test
https://doi.org/10.26502/acmcr.96550440Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ea7d5bd305de1b48e6d3672296089a0Test
https://doi.org/10.1093/infdis/jiw186Test

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
Gut

مصطلحات 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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30f577b5d105cf0690c0762b85ac472fTest
https://doi.org/10.1136/gutjnl-2015-309441Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::07bb3805edb728cca90eef7861aff2a3Test
https://doi.org/10.1093/ecco-jcc/jjz203.883Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::783427cd6ae345ffc40b154a691e68cdTest
https://pubmed.ncbi.nlm.nih.gov/29499739Test