المؤلفون: Jane Hübertz Frederiksen, Ulf Birkedal, Sarah Bachmann, Elisabeth Victoria Eliesen, Lene Juel Rasmussen, Katja Venborg Pedersen, Lana Al‐Zehhawi, Susanne E. Boonen, Lotte Krogh, Karina Rønlund, Lise Graversen, Jannie Assenholt, Kjeld Schmiegelow, Karin Wadt, Anne‐Marie Gerdes, Thomas v. O. Hansen

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)

مصطلحات موضوعية: ACMG/AMP classification, Lynch syndrome, MLH1, nuclear localization, protein stability, RNA splicing analysis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/3138d238b0bc48cdadc8df08238a908f

المؤلفون: Jihoon E. Joo, Khalid Mahmood, Romy Walker, Peter Georgeson, Ida Candiloro, Mark Clendenning, Julia Como, Sharelle Joseland, Susan Preston, Lise Graversen, Mathilda Wilding, Michael Field, Michelle Lemon, Janette Wakeling, Helen Marfan, Rachel Susman, Joanne Isbister, Emma Edwards, Michelle Bowman, Judy Kirk, Emilia Ip, Lynne McKay, Yoland Antill, John L. Hopper, Alex Boussioutas, Finlay A. Macrae, Alexander Dobrovic, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan

المصدر: Clinical Epigenetics, Vol 15, Iss 1, Pp 1-17 (2023)

مصطلحات موضوعية: MLH1 epimutation, Genome wide DNA methylation, MLH1 methylation, MMR deficiency, Colorectal cancer, Lynch syndrome, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1868-7083

URL الوصول: https://doaj.org/article/205aa9e2d6d045aca7e0fc588c972c5c

المؤلفون: Lena Hohwü, Jin Liang Zhu, Lise Graversen, Jiong Li, Thorkild I A Sørensen, Carsten Obel

المصدر: PLoS ONE, Vol 10, Iss 3, p e0119138 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4361592?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/166e9620157343e9b66ce5d9d89a0a85

المؤلفون: Lise Graversen, Thorkild I A Sørensen, Liselotte Petersen, Ulla Sovio, Marika Kaakinen, Annelli Sandbæk, Jaana Laitinen, Anja Taanila, Anneli Pouta, Marjo-Riitta Järvelin, Carsten Obel

المصدر: PLoS ONE, Vol 9, Iss 4, p e95314 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3991687?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/9ad3815cb75f41dcbbf897bf7a58a978

المؤلفون: Lise Graversen, Thorkild I A Sørensen, Liselotte Petersen, Ulla Sovio, Marika Kaakinen, Annelli Sandbaek, Jaana Laitinen, Anja Taanila, Anneli Pouta, Marjo-Riitta Järvelin, Carsten Obel

المصدر: PLoS ONE, Vol 9, Iss 3, p e89986 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3940896?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/b6057375e3fb4e86ac7b1ba90b991608

المؤلفون: Lalloo, Fiona, Kulkarni, Anju, Chau, Cindy, Nielsen, Maartje, Sheaff, Michael, Steele, Jeremy, van Doorn, Remco, Wadt, Karin, Hamill, Monica, Torr, Beth, Tischkowitz, Marc, Hanson, Helen, Munaza Ahmed, Svetlana Bajalica-Lagercrantz, Ana Blatnik, Joan Brunet, Ruth Cleaver, Chrystelle Colas, Tabib Dabir, D. Gareth Evans, Shirin Feshtali, Paola Ghiorzo, Lise Graversen, Klaus Griewank, Hildur Helgadottir, Rosalyn Jewell, F. Lalloo, Kelly Kohut, Henrik Lorentzen, Daniela Massi, Guy Missotten, Alex Murray, Jennie Murray, Ernest Nadal, Kai Ren Ong, Josep M. Piulats, Susana Puig, Neil Rajan, Simone Ribero, Galateau Salle, Alexandre Teulé, Emma Tham, Barbara van Paassen, Robin De Putter, Robert Verdijk, Anja Wagner and Emma R. Woodward

المساهمون: Fiona, Lalloo, Anju, Kulkarni, Cindy, Chau, Maartje, Nielsen, Michael, Sheaff, Jeremy, Steele, Remco, van Doorn, Karin, Wadt, Monica, Hamill, Beth, Torr, Marc, Tischkowitz, Helen, Hanson, Ahmed, Munaza, Bajalica-Lagercrantz, Svetlana, Blatnik, Ana, Brunet, Joan, Cleaver, Ruth, Colas, Chrystelle, Dabir, Tabib, Gareth Evans, D., Feshtali, Shirin, Ghiorzo, Paola, Graversen, Lise, Griewank, Klau, Helgadottir, Hildur, Jewell, Rosalyn, Lalloo, F., Kohut, Kelly, Lorentzen, Henrik, Massi, Daniela, Missotten, Guy, Murray, Alex, Murray, Jennie, Nadal, Ernest, Ren Ong, Kai, Piulats, Josep M., Puig, Susana, Rajan, Neil, Ribero, Simone, Salle, Galateau, Teulé, Alexandre, Tham, Emma, van Paassen, Barbara, De Putter, Robin, Verdijk, Robert, Woodward, Anja Wagner and Emma R.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37607989; info:eu-repo/semantics/altIdentifier/wos/WOS:001052773100002; volume:31; firstpage:1; lastpage:9; numberofpages:9; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11567/1136855; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85168608297

الاتاحة: https://hdl.handle.net/11567/1136855
https://doi.org/10.1038/s41431-023-01448-z

المؤلفون: Anne Sofie, Frølunde, Lise, Graversen, Kristine Appel Uldall, Pallesen, Mette, Sommerlund

المصدر: Ugeskrift for laeger. 183(19)

مصطلحات موضوعية: Adult, Rare Diseases, Cystic Fibrosis, Humans, Water, Genetic Testing, Skin Aging

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::963bcc84802b41dcaca4e27273d59285
https://pubmed.ncbi.nlm.nih.gov/33998454

المؤلفون: Ida Vogel, V. Gjørup, Brian Nauheimer Andersen, Pernille Axel Gregersen, Gudrun Gudmundsdottir, Lise Graversen, Annette Haagerup, Karin Kastberg Petersen

المصدر: Graversen, L, Haagerup, A, Andersen, B N, Petersen, K K, Gjørup, V, Gudmundsdottir, G, Vogel, I & Gregersen, P A 2018, ' Novel TRPV4 variant causes a severe form of metatropic dysplasia ', Clinical Case Reports, vol. 6, no. 9, pp. 1774-1778 . https://doi.org/10.1002/ccr3.1598
Clinical Case Reports

مصطلحات موضوعية: 0301 basic medicine, Thorax, Metatropic Dysplasia, business.industry, rare diseases, Case Report, Short neck, Case Reports, General Medicine, Anatomy, 03 medical and health sciences, Prominent joints, Frontal Bossing, 030104 developmental biology, genetic diseases, TRPV4, Short limbs, Medicine, Missense mutation, metatropic dysplasia, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91381e5da6564f6a02d68c625cacbc82
https://pure.au.dk/portal/da/publications/novel-trpv4-variant-causes-a-severe-form-of-metatropic-dysplasia(acf604c3-03e3-46e9-b1ad-9f4a560f7f64).html

المؤلفون: Laura D Howe, Jaana Laitinen, M-R Jarvelin, Anneli Pouta, Carsten Obel, Lena Hohwü, Ulla Sovio, Anja Taanila, Kate Tilling, Lise Graversen, Thorkild I. A. Sørensen

المصدر: Pediatric Obesity. 12:102-109

مصطلحات موضوعية: Longitudinal study, Pediatrics, medicine.medical_specialty, 030209 endocrinology & metabolism, Overweight, Danish, 03 medical and health sciences, 0302 clinical medicine, medicine, 030212 general & internal medicine, 2. Zero hunger, Pregnancy, Nutrition and Dietetics, business.industry, Health Policy, Multilevel model, Public Health, Environmental and Occupational Health, medicine.disease, language.human_language, Pediatrics, Perinatology and Child Health, Cohort, language, medicine.symptom, business, Body mass index, Demography, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dfe3b34875025a5860eaf0b425ab3610
https://doi.org/10.1111/ijpo.12115

المؤلفون: Michel Bach Hellfritzsch, Mads Malik Aagaard, Lotte Risom, Lise Graversen, Pernille Axel Gregersen, Michael Davidsen, Melita Irving, Birgitte Rode Diness, Dea Svaneby, Hanne Hove, Hans Gjørup, Mette Møller Handrup, Ida Vogel, Eva Lauridsen

المصدر: Graversen, L, Handrup, M M, Irving, M, Hove, H, Diness, B R, Risom, L, Svaneby, D, Aagaard, M M, Vogel, I, Gjørup, H, Davidsen, M, Hellfritzsch, M B, Lauridsen, E & Gregersen, P A 2020, ' Phenotypic presentations of Hajdu-Cheney syndrome according to age – 5 distinct clinical presentations ', European Journal of Medical Genetics, vol. 63, no. 2, 103650 . https://doi.org/10.1016/j.ejmg.2019.04.007
Graversen, L, Handrup, M M, Irving, M, Hove, H, Diness, B R, Risom, L, Svaneby, D, Aagaard, M M, Vogel, I, Gjørup, H, Davidsen, M, Hellfritzsch, M B, Lauridsen, E & Gregersen, P A 2020, ' Phenotypic presentations of Hajdu-Cheney syndrome according to age : 5 distinct clinical presentations ', European Journal of Medical Genetics, vol. 63, no. 2, 103650 . https://doi.org/10.1016/j.ejmg.2019.04.007

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Hajdu–Cheney syndrome, Hajdu-Cheney syndrome, Osteoporosis, 030105 genetics & heredity, Hajdu-Cheney Syndrome, Acro-Osteolysis, 03 medical and health sciences, Rare Diseases, NOTCH2, Skeletal disorder, Exome Sequencing, Genetics, medicine, Humans, Receptor, Notch2, Child, Acro-osteolysis, Genetics (clinical), Disease burden, Genetic testing, medicine.diagnostic_test, Mosaicism, business.industry, Exons, General Medicine, Middle Aged, medicine.disease, Phenotype, Pedigree, Rare diseases, Natural history, Bone Diseases, Metabolic, 030104 developmental biology, Mutation, Female, business, Genetic diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a68a78fe8ba291c39c57ce6da13d643
https://doi.org/10.1016/j.ejmg.2019.04.007

المؤلفون: Anja Taanila, Annelli Sandbæk, Anneli Pouta, Thorkild I. A. Sørensen, Marjo-Riitta Järvelin, Ulla Sovio, Liselotte Petersen, Marika Kaakinen, Lise Graversen, Thomas A. Gerds, Carsten Obel, Jaana Laitinen

المصدر: Graversen, L, Sørensen, T I A, Gerds, T A, Petersen, L, Sovio, U, Kaakinen, M, Sandbaek, A, Laitinen, J, Taanila, A, Pouta, A, Järvelin, M-R & Obel, C 2015, ' Prediction of adolescent and adult adiposity outcomes from early life anthropometrics ', Obesity, vol. 23, no. 1, pp. 162-169 . https://doi.org/10.1002/oby.20921
Graversen, L, Sørensen, T I A, Gerds, T A, Petersen, L, Sovio, U, Kaakinen, M, Sandbaek, A, Laitinen, J, Taanila, A, Pouta, A, Järvelin, M-R & Obel, C 2014, ' Prediction of adolescent and adult adiposity outcomes from early life anthropometrics ', Obesity, vol. 23, no. 1, pp. 162-169 . https://doi.org/10.1002/oby.20921

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Birth weight, Medicine (miscellaneous), Overweight, Body Mass Index, Endocrinology, Predictive Value of Tests, medicine, Birth Weight, Humans, Body Weights and Measures, Mass index, Obesity, Early childhood, Child, Adiposity, Models, Statistical, Schools, Nutrition and Dietetics, business.industry, Infant, Newborn, Infant, nutritional and metabolic diseases, Anthropometry, Prognosis, medicine.disease, Child, Preschool, Female, medicine.symptom, business, Body mass index, Weight gain, Demography

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e543231a4828f5e244211237eb1ccbd
https://doi.org/10.1002/oby.20921

المؤلفون: Lise Graversen, Knut Borch-Johnsen, Torsten Lauritzen, Bo Christensen, Annelli Sandbæk

المصدر: Graversen, L, Christensen, B, Borch-Johnsen, K, Lauritzen, T & Sandbaek, A 2011, ' Lipid-lowering drugs as primary prevention in general practice: Do patients reach guideline goals and continue treatment? ADDITION Denmark ', Scandinavian Journal of Primary Health Care, vol. 29, no. 4, pp. 216-221 . https://doi.org/10.3109/02813432.2011.629148
Graversen, L, Christensen, B, Borch-Johnsen, K, Lauritzen, T & Sandbaek, A 2011, ' Lipid-lowering drugs as primary prevention in general practice : do patients reach guideline goals and continue treatment? ADDITION Denmark ', Scandinavian Journal of Primary Health Care, vol. 29, no. 4, pp. 216-21 . https://doi.org/10.3109/02813432.2011.629148

مصطلحات موضوعية: Male, Simvastatin, Pediatrics, medicine.medical_specialty, Cross-sectional study, General Practice, Population, Blood lipids, Medication Adherence, Outcome Assessment (Health Care), Pharmacotherapy, Risk Factors, Outcome Assessment, Health Care, medicine, Humans, education, Aged, Dyslipidemias, Hypolipidemic Agents, Aged, 80 and over, education.field_of_study, Cholesterol Measurement, business.industry, Anticholesteremic Agents, Public Health, Environmental and Occupational Health, Guideline, Middle Aged, medicine.disease, Primary Prevention, Cross-Sectional Studies, Cardiovascular Diseases, Population study, Original Article, Female, Guideline Adherence, business, Goals, Dyslipidemia, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73a4de87f052a9573c073d2f3def7b3d
https://portal.findresearcher.sdu.dk/da/publications/eb46cdbf-abf4-4d07-a06b-ac1f99fce0bf

المؤلفون: Lise Graversen, Annelli Sandbæk, B. O. Christensen, Torsten Lauritzen, Knut Borch-Johnsen

المصدر: Graversen, L, Christensen, B, Borch-Johnsen, K, Lauritzen, T & Sandbaek, A 2010, ' General practitioners' adherence to guidelines on management of dyslipidaemia: ADDITION-Denmark ', Scandinavian Journal of Primary Health Care, vol. 28, no. 1, pp. 47 . https://doi.org/10.3109/02813430903335216

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Denmark, Population, Disease, Danish, Risk Factors, Diabetes mellitus, Outcome Assessment, Health Care, medicine, Humans, Mass Screening, In patient, cardiovascular diseases, Medical prescription, Practice Patterns, Physicians', education, Dyslipidemias, Hypolipidemic Agents, education.field_of_study, business.industry, Public Health, Environmental and Occupational Health, Middle Aged, medicine.disease, language.human_language, Cross-Sectional Studies, Cardiovascular Diseases, Family medicine, Practice Guidelines as Topic, language, Population study, lipids (amino acids, peptides, and proteins), Original Article, Female, Guideline Adherence, business, Family Practice, Clearance, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c19a8292856b05257edc4ff99c90ca4
https://europepmc.org/articles/PMC3440615/

المؤلفون: Harry Bartelink, Manon Verwijs-Janssen, Wim Blyweert, Els Dahmen-Mooren, Lise Graversen, Adrian C. Begg, Conchita Vens

المصدر: Nucleic Acids Research, 30, 13, pp. 2995-3004
Nucleic Acids Research, 30, 2995-3004

مصطلحات موضوعية: Methylnitronitrosoguanidine, Cell Survival, Ultraviolet Rays, DNA polymerase, Recombinant Fusion Proteins, Green Fluorescent Proteins, DNA polymerase beta, Transfection, Gene Expression Regulation, Enzymologic, Article, chemistry.chemical_compound, Tumor Cells, Cultured, Genetics, medicine, Humans, Radiosensitivity, Experimental radiotherapy and neuro-oncology, DNA Polymerase beta, Sensitization, Polymerase, Cell Nucleus, biology, Cell Cycle, G1 Phase, Base excision repair, Cell cycle, Experimentele radiotherapie en neuro-oncologie, Molecular biology, Luminescent Proteins, medicine.anatomical_structure, chemistry, biology.protein, Cell Division, DNA

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca1c9b414d8a0ebd138b1c0796d1710
https://hdl.handle.net/2066/186706

المؤلفون: Brian Nauheimer Andersen, Annette Haagerup, Lise Graversen, Karin Kastberg Petersen, Gudrun Gudmundsdottir, Ida Vogel, Pernille Axel Gregersen

المصدر: Aarhus University

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4f555e0c0b0e0203739cf2bfb9dd381e
https://pure.au.dk/portal/en/publications/novel-trpv4mutation-causing-severe-metatropic-dysplasia(aabd06ea-b521-487c-ba7a-d9ead6ab084f).html