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1دورية أكاديمية
المؤلفون: Antonia Howaldt, MD, Sandrine Lenglez, BSc, Clara Velmans, MD, Anne Maria Schultheis, MD, Thomas Clahsen, PhD, Mario Matthaei, MD, Jürgen Kohlhase, MD, Christian Vokuhl, MD, Reinhard Büttner, MD, Christian Netzer, MD, Jean-Baptiste Demoulin, PhD, Claus Cursiefen, MD, PhD
المصدر: Ophthalmology Science, Vol 4, Iss 3, Pp 100444- (2024)
مصطلحات موضوعية: Infantile myofibromatosis, PDGFRB, Imatinib, Corneal myofibroma, Receptor tyrosine kinase inhibitor, Ophthalmology, RE1-994
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666914523001768Test; https://doaj.org/toc/2666-9145Test
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2دورية أكاديمية
المؤلفون: Amelie S. Lotz-Havla, Katharina J. Weiß, Katharina A. Schiergens, Theresa Brunet, Jürgen Kohlhase, Stephanie Regenauer-Vandewiele, Esther M. Maier
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
مصطلحات موضوعية: Remethylation disorder, Cobalamin, Hydroxycobalamin, Subcutaneous catheter system, Subcutaneous infusion, Infusion pump, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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3دورية أكاديمية
المؤلفون: Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
مصطلحات موضوعية: EIF3F gene, Neurodevelopmental disorder, Short stature, Deafness, Behavioral difficulties, Altered muscular tone, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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4دورية أكاديمية
المصدر: Head & Face Medicine, Vol 15, Iss 1, Pp 1-10 (2019)
مصطلحات موضوعية: Bone graft, Dental implant, Distraction osteogenesis, Keratocystic odontogenic tumor, Specialties of internal medicine, RC581-951
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13005-019-0189-5Test; https://doaj.org/toc/1746-160XTest
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5دورية أكاديمية
المؤلفون: Ozkan Ilhan, Evren Gumus, Nilay Hakan, Hande Istar, Bugra Harmandar, Hasim Olgun, Suleyman Cuneyt Karakus, Nesat Cullu, Juergen Kohlhase, James D Sutherland, Rosa Barrio
العلاقة: https://zenodo.org/record/7125671Test; https://doi.org/10.1055/s-0041-1740371Test; oai:zenodo.org:7125671
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6دورية أكاديمية
المؤلفون: Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S Taylor, Fiona Stewart, Colin E Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I Traboulsi, Eduardo D Silva, Mukhlis M Madlom, David R Goudie, Brian W Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D McTrusty, Carol Gardiner, Christopher Yale, Anthony T Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L Beales, Stephen J Tuft, Juan B Solano, Miranda Splitt, Jens Michael Hertz, Trine E Prescott, Deborah J Shears, Ken K Nischal, Martine Doco-Fenzy, Fabienne Prieur, I Karen Temple, Katherine L Lachlan, Giuseppe Damante, Danny A Morrison, Veronica van Heyningen, David R FitzPatrick
المصدر: PLoS ONE, Vol 11, Iss 4, p e0153757 (2016)
العلاقة: http://europepmc.org/articles/PMC4849793?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/b653c7a9f55349049c0c5eae18e1736fTest
الإتاحة: https://doi.org/10.1371/journal.pone.0153757Test
https://doaj.org/article/b653c7a9f55349049c0c5eae18e1736fTest -
7دورية أكاديمية
المؤلفون: Georgia Avgitidou, Sebastian Siebelmann, Bjoern Bachmann, Juergen Kohlhase, Ludwig M. Heindl, Claus Cursiefen
المصدر: Case Reports in Ophthalmological Medicine, Vol 2015 (2015)
مصطلحات موضوعية: Ophthalmology, RE1-994
العلاقة: http://dx.doi.org/10.1155/2015/637084Test; https://doaj.org/toc/2090-6722Test; https://doaj.org/toc/2090-6730Test; https://doaj.org/article/8ad0e8b38a6645d79bfff4ec97eda4ccTest
الإتاحة: https://doi.org/10.1155/2015/637084Test
https://doaj.org/article/8ad0e8b38a6645d79bfff4ec97eda4ccTest -
8
المؤلفون: Ulrike Hüffmeier (8830046), Cornelia Kraus (3272667), Miriam S. Reuter (9377699), Steffen Uebe (390051), Mary-Alice Abbott (10329659), Syed A. Ahmed (10329662), Kristyn L. Rawson (10329665), Eileen Barr (10329668), Hong Li (20183), Ange-Line Bruel (3178743), Laurence Faivre (397333), Frédéric Tran Mau-Them (10329671), Christina Botti (10329674), Susan Brooks (10329677), Kaitlyn Burns (10329680), D. Isum Ward (10329683), Marina Dutra-Clarke (5940176), Julian A. Martinez-Agosto (10329686), Hane Lee (253935), Stanley F. Nelson (10329689), Pia Zacher (10329692), Rami Abou Jamra (558384), Chiara Klöckner (10329695), Julie McGaughran (3862957), Jürgen Kohlhase (10329698), Sarah Schuhmann (10329701), Ellen Moran (2633275), John Pappas (10329704), Annick Raas-Rothschild (6873299), Maria J. Guillen Sacoto (10329707), Lindsay B. Henderson (10329710), Timothy Blake Palculict (10329713), Sureni V. Mullegama (10329716), Houda Zghal Elloumi (10329719), Adi Reich (10329722), Samantha A. Schrier Vergano (10329725), Erica Wahl (10329728), André Reis (166910), Christiane Zweier (478497)
مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Sociology, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, EIF3F gene, Neurodevelopmental disorder, Short stature, Deafness, Behavioral difficulties, Altered muscular tone
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9صورة
المؤلفون: Ulrike Hüffmeier (8830046), Cornelia Kraus (3272667), Miriam S. Reuter (9377699), Steffen Uebe (390051), Mary-Alice Abbott (10329659), Syed A. Ahmed (10329662), Kristyn L. Rawson (10329665), Eileen Barr (10329668), Hong Li (20183), Ange-Line Bruel (3178743), Laurence Faivre (397333), Frédéric Tran Mau-Them (10329671), Christina Botti (10329674), Susan Brooks (10329677), Kaitlyn Burns (10329680), D. Isum Ward (10329683), Marina Dutra-Clarke (5940176), Julian A. Martinez-Agosto (10329686), Hane Lee (253935), Stanley F. Nelson (10329689), Pia Zacher (10329692), Rami Abou Jamra (558384), Chiara Klöckner (10329695), Julie McGaughran (3862957), Jürgen Kohlhase (10329698), Sarah Schuhmann (10329701), Ellen Moran (2633275), John Pappas (10329704), Annick Raas-Rothschild (6873299), Maria J. Guillen Sacoto (10329707), Lindsay B. Henderson (10329710), Timothy Blake Palculict (10329713), Sureni V. Mullegama (10329716), Houda Zghal Elloumi (10329719), Adi Reich (10329722), Samantha A. Schrier Vergano (10329725), Erica Wahl (10329728), André Reis (166910), Christiane Zweier (478497)
مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Sociology, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, EIF3F gene, Neurodevelopmental disorder, Short stature, Deafness, Behavioral difficulties, Altered muscular tone
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10
المؤلفون: Ruediger Klaes, Thomas Eggermann, Gundula Kadgien, Sümeyye Cöktü, Cornelia Kraus, Melanie Kaiser, Alf Beckmann, Nadine Bachmann, Jürgen Kohlhase, Christian P. Kratz, Martin Zenker, Stephanie Kleinle, Michael Kutsche, Claudia Nevinny-Stickel-Hinzpeter, Saskia Biskup, Claudia Spix, Dirk Prawitt, Jasmin Beygo, Nicolai Kohlschmidt, Steffi Döhnert, Inga Vater
المصدر: British Journal of Cancer
مصطلحات موضوعية: Male, Oncology, Cancer Research, medicine.medical_specialty, Hepatoblastoma, Beckwith-Wiedemann Syndrome, Adolescent, Population, Medizin, Article, Paediatric cancer, 03 medical and health sciences, Cancer epidemiology, 0302 clinical medicine, Cancer epigenetics, Germany, Neoplasms, Internal medicine, Genotype, medicine, Humans, Registries, Child, education, Retrospective Studies, 030304 developmental biology, 0303 health sciences, Childhood Cancer Registry, education.field_of_study, business.industry, Chromosomes, Human, Pair 11, Incidence, Infant, Cancer, Astrocytoma, Retrospective cohort study, Uniparental Disomy, medicine.disease, Child, Preschool, 030220 oncology & carcinogenesis, Cohort, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2504ddb9efcc2248e6bbd89f37024405Test
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85085321542Test