المؤلفون: Rubin, Sarah^Aff5, Sochon-Smith, Jan^Aff5

المساهمون: Alshryda, Sattar, editor^Aff1, Jackson, Lisa, editor^Aff2, Thalange, Nandu, editor^Aff3, AlHammadi, Ali, editor^Aff4

المصدر: Pediatric Orthopedics for Primary Healthcare : Evidence-Based Practice. :207-230

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

URL الوصول: https://doaj.org/article/625ec588b80e40d9940d87d25c621beb

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

Relation: http://www.saudija.org/article.asp?issn=1658-354X;year=2021;volume=15;issue=1;spage=53;epage=55;aulast=Vazquez-Colon; https://doaj.org/toc/1658-354X

URL الوصول: https://doaj.org/article/fa6e7853a03d4dc28ddec5b2d15a3b5a

المؤلفون: Meerschaut, Ilse^{Aff1, 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, Fiona^{Aff18, 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, Bert^Aff1

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(1):124-131

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

URL الوصول: https://doaj.org/article/7ae0a6b933ac48a49d48908fb9986ec0

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

Relation: http://www.annalspc.com/article.asp?issn=0974-2069;year=2019;volume=12;issue=2;spage=150;epage=152;aulast=Siddiqui; https://doaj.org/toc/0974-2069

URL الوصول: https://doaj.org/article/ab406ed1ebe74c798a76e77b6955b196

المؤلفون: Child, Anne H.^Aff2

المساهمون: Child, Anne H., editor^Aff1

المصدر: Diagnosis and Management of Marfan Syndrome. :21-25

Degree: MD, FRCP

المؤلفون: Martin, Anthony Gwynne, Foguet, Pedro R., Marks, David S., Thompson, A. G., Child, A. H.

المصدر: European Spine Journal. April 2006 15(4):433-439

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

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