المؤلفون: Jakob Benedict Seidelin, Inge Marie Svane, Eva Ellebaek, Henrik Vedel Nielsen, Emilie Kristine Dahl, Morten Helms, Rikke Boedker Holmstroem, Jacob Tveiten Bjerrum, Janne Bayer Andersen

المصدر: BMJ Open Gastroenterology, Vol 9, Iss 1 (2022)

مصطلحات موضوعية: Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

Relation: https://bmjopengastro.bmj.com/content/9/1/e000989.full; https://doaj.org/toc/2054-4774

URL الوصول: https://doaj.org/article/f345ce0c283a450c958e3063c09d7ea7

المؤلفون: Anne-Marie Gerdes, Birgitte Rode Diness, Martin Dræbye Gantzhorn, Egil Husum, Line Nicolaisen, Janne Bayer Andersen, Laura Roos

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Adult, Male, Health Knowledge, Attitudes, Practice, medicine.medical_specialty, Adolescent, Denmark, Population, MEDLINE, Disease, Individual risk, Article, Danish, Public knowledge, Direct-To-Consumer Screening and Testing, Genetics, medicine, Humans, Genetic Testing, education, Genetics (clinical), Aged, Genetic testing, education.field_of_study, medicine.diagnostic_test, business.industry, Middle Aged, language.human_language, Test (assessment), Public Opinion, Family medicine, language, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ae810fffecc393c5640502742166a9a
https://doi.org/10.1038/s41431-021-00810-3

المؤلفون: Rikke Boedker Holmstroem, Emilie Kristine Dahl, Morten Helms, Henrik Vedel Nielsen, Janne Bayer Andersen, Jacob Tveiten Bjerrum, Inge Marie Svane, Eva Ellebaek, Jakob Benedict Seidelin

المصدر: Holmstroem, R B, Dahl, E K, Helms, M, Nielsen, H V, Andersen, J B, Bjerrum, J T, Svane, I M, Ellebaek, E & Seidelin, J B 2022, ' Tofacitinib and faecal microbiota transplantation in treating checkpoint inhibitor-induced enterocolitis : case report ', BMJ Open Gastroenterology, vol. 9, no. 1, e000989 . https://doi.org/10.1136/bmjgast-2022-000989

مصطلحات موضوعية: Fecal Microbiota Transplantation/adverse effects, Antineoplastic Agents, Immunological/adverse effects, Antineoplastic Agents, Immunological, Enterocolitis/chemically induced, Enterocolitis, Gastroenterology, Humans, Colitis/therapy, Fecal Microbiota Transplantation, Colitis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4c058cd1452d0daf71f568c62b551a9
https://curis.ku.dk/portal/da/publications/tofacitinib-and-faecal-microbiota-transplantation-in-treating-checkpoint-inhibitorinduced-enterocolitis(9a254421-b5ef-4cb4-83ad-938ac9ad0619).html

المؤلفون: Michael J. Parker, Francisco Martínez, Paul A. Mulder, Lianne C. Krab, Shane McKee, Meena Balasubramanian, Melissa Assaf, Iñigo Marcos-Alcalde, Leonie A. Menke, Sanna Gudmundsson, Marwan Shinawi, Emanuela Scarano, Oliver Murch, Raoul C.M. Hennekam, David R. FitzPatrick, Paulino Gómez-Puertas, Feliciano J. Ramos, Janne Bayer Andersen, Jill A. Rosenfeld Mokry, Tugba Kalayci, Saskia M. Maas, Anne Marie Bisgaard, Sylvia A. Huisman, Juan Pié, Claudine Rieubland, Zeynep Tümer

المساهمون: Ministerio de Ciencia, Innovación y Universidades (España), Paediatric Genetics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Human Genetics, General Paediatrics, Amsterdam Reproduction & Development (AR&D), Graduate School, APH - Quality of Care

المصدر: Krab, L C, Marcos-Alcalde, I, Assaf, M, Balasubramanian, M, Andersen, J B, Bisgaard, A M, Fitzpatrick, D R, Gudmundsson, S, Huisman, S A, Kalayci, T, Maas, S M, Martinez, F, McKee, S, Menke, L A, Mulder, P A, Murch, O D, Parker, M, Pie, J, Ramos, F J, Rieubland, C, Rosenfeld Mokry, J A, Scarano, E, Shinawi, M, Gómez-Puertas, P, Tümer, Z & Hennekam, R C 2020, ' Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 ', Human Genetics, vol. 139, pp. 575-592 . https://doi.org/10.1007/s00439-020-02138-2
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
DDFV: Repositorio Institucional de la Universidad Francisco de Vitoria
Universidad Francisco de Vitoria
Human Genetics
Digital.CSIC. Repositorio Institucional del CSIC
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Human genetics, 139(5), 575-592. Springer Verlag
HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

مصطلحات موضوعية: Male, Mungan syndrome, Genotype-phenotype correlation, Protein Conformation, 8Q24, Cell Cycle Proteins, NIPBL, 0302 clinical medicine, Holoprosencephaly, De Lange Syndrome, Genotype, Child, Genetics (clinical), Original Investigation, Genetics, 0303 health sciences, Middle Aged, Phenotype, DNA-Binding Proteins, DE-LANGE-SYNDROME, CORNELIA, Child, Preschool, Female, Chromosome Deletion, Medical Genetics, Adult, Cornelia de Lange Syndrome, Adolescent, Cohesin complex, ORGANIZATION, Molecular Dynamics Simulation, SMC1A, Biology, PATIENT, Young Adult, 03 medical and health sciences, Cohesinopathy, medicine, Humans, RAD21, Genetic Association Studies, Medicinsk genetik, 030304 developmental biology, IDENTIFICATION, Cohesin, MUTATIONS, Infant, Newborn, Infant, medicine.disease, GENE, Cornelia de Lange syndrome, GIEDION, Mutation, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a46ea7b3f05f0c29790795166cec305
http://hdl.handle.net/10261/235732

المؤلفون: Janne Bayer, Andersen, Birgitte Rode, Diness, Karen, Brøndum-Nielsen

المصدر: Ugeskrift for laeger. 176(52)

مصطلحات موضوعية: Minors, Practice Guidelines as Topic, Genetic Diseases, Inborn, Humans, Genetic Counseling, Genetic Testing, Child, Societies, Medical

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ff0d4422dc7b34128e47cdb0173cb6bf
https://pubmed.ncbi.nlm.nih.gov/25534341