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1دورية أكاديمية
المؤلفون: Alieh Mirzaee, Narges Pishva, Zohreh Karamizadeh, Jurgen Kohlhase, Shahnaz Purarian, Fariba Hemmati, Mostajab Razavi, Shiva Nasirabadi
المصدر: Iranian Journal of Neonatology, Vol 8, Iss 3, Pp 72-74 (2017)
مصطلحات موضوعية: BCKD deficiency, DNA mutational analysis, Maple syrup urine disease, Pediatrics, RJ1-570
وصف الملف: electronic resource
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2دورية 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
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3دورية 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
Relation: https://doaj.org/toc/1750-1172
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4دورية 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
Relation: https://doaj.org/toc/1750-1172
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5دورية 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