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1كتاب إلكتروني
المؤلفون: Rubin, SarahAff5, Sochon-Smith, JanAff5
المساهمون: Alshryda, Sattar, editorAff1, Jackson, Lisa, editorAff2, Thalange, Nandu, editorAff3, AlHammadi, Ali, editorAff4
المصدر: Pediatric Orthopedics for Primary Healthcare : Evidence-Based Practice. :207-230
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2دورية أكاديمية
المؤلفون: Hiroki Yagi, Hiroshi Takiguchi, Norifumi Takeda, Ryo Inuzuka, Yuki Taniguchi, Kristine Joyce Porto, Hiroyuki Ishiura, Jun Mitsui, Hiroyuki Morita, Issei Komuro
المصدر: Clinical Case Reports, Vol 10, Iss 2, Pp n/a-n/a (2022)
مصطلحات موضوعية: array‐CGH, Beals syndrome, camptodactyly, copy number variation, integrative genomics viewer, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2050-0904
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3دورية أكاديمية
المؤلفون: Caroll N Vazquez-Colon, Angela C Lee
المصدر: Saudi Journal of Anaesthesia, Vol 15, Iss 1, Pp 53-55 (2021)
مصطلحات موضوعية: congenital trismus, hecht-beals syndrome, pseudocamptodactyly, Anesthesiology, RD78.3-87.3
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Meerschaut, IlseAff1, Aff2, De Coninck, Shana, Steyaert, Wouter, Barnicoat, Angela, Bayat, Allan, Benedicenti, Francesco, Berland, Siren, Blair, Edward M., Breckpot, Jeroen, de Burca, Anna, Destrée, Anne, García-Miñaúr, Sixto, Green, Andrew J.Aff11, Aff12, Hanna, Bernadette C., Keymolen, Kathelijn, Koopmans, Marije, Lederer, Damien, Lees, Melissa, Longman, Cheryl, Lynch, Sally Ann, Male, Alison M., McKenzie, FionaAff18, Aff19, Migeotte, Isabelle, Mihci, Ercan, Nur, Banu, Petit, Florence, Piard, Juliette, Plasschaert, Frank S., Rauch, Anita, Ribaï, Pascale, Pacheco, Iratxe Salcedo, Stanzial, Franco, Stolte-Dijkstra, Irene, Valenzuela, Irene, Varghese, Vinod, Vasudevan, Pradeep C., Wakeling, Emma, Wallgren-Pettersson, Carina, Coucke, Paul, De Paepe, Anne, De Wolf, Daniël, Symoens, Sofie, Callewaert, BertAff1
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(1):124-131
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5دورية أكاديمية
المؤلفون: Lin Hu, Huanzheng Li, Guang Sun, Ke Wu, Zhaotang Luan, Yanbao Xiang, Shaohua Tang
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
مصطلحات موضوعية: beals syndrome, congenital contractural arachnodactyly, FBN2, prenatal diagnosis, whole‐exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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6دورية أكاديمية
المؤلفون: Saira Siddiqui, Laurie Panesar
المصدر: Annals of Pediatric Cardiology, Vol 12, Iss 2, Pp 150-152 (2019)
مصطلحات موضوعية: Beals syndrome, dilated great arteries, fibrillin-2 mutation, Medicine, Pediatrics, RJ1-570, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
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7كتاب إلكتروني
المؤلفون: Child, Anne H.Aff2
المساهمون: Child, Anne H., editorAff1
المصدر: Diagnosis and Management of Marfan Syndrome. :21-25
Degree: MD, FRCP
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8دورية أكاديمية
المصدر: European Spine Journal. April 2006 15(4):433-439
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9دورية أكاديمية
المؤلفون: Takaesu-Miyagi, Sugie, Sakai, Hiroshi, Shiroma, Tadashi, Hayakawa, Kazuhisa, Funakoshi, Yusei, Sawaguchi, Shoichi
المصدر: Japanese Journal of Ophthalmology: The Official English-Language Journal of the Japanese Ophthalmological Society. September 2004 48(5):470-474
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10
المؤلفون: A. N. Semyachkina, E. A. Bliznets, V. Yu. Voinova, S. V. Bochenkov, M. N. Kharabadze, E. A. Nikolaeva, A. V. Polyakov
المصدر: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 61, Iss 5, Pp 47-51 (2016)
مصطلحات موضوعية: Marfan syndrome, musculoskeletal diseases, Pathology, medicine.medical_specialty, Genetic counseling, Biology, Gene mutation, Pediatrics, RJ1-570, Arachnodactyly, fbn2 gene, children, beals syndrome, differential diagnosis, medicine, Missense mutation, Stickler syndrome, medical genetic counseling, Arthrogryposis, c.3719g>a mutation, medicine.disease, fibrillin 2 protein, Pediatrics, Perinatology and Child Health, medicine.symptom, clinical signs, marfan syndrome, Fibrillin
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab430cae15abfd571549ad4ad58cb267
https://www.ped-perinatology.ru/jour/article/view/379