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1دورية أكاديمية
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المؤلفون: Roger E. Stevenson, Cindy Skinner, Debra L. Collins, Michael J. Friez, Charles E. Schwartz, Raymond J. Louie
المصدر: American Journal of Medical Genetics Part A. 182:2168-2174
مصطلحات موضوعية: Dystonia, medicine.medical_specialty, Microcephaly, business.industry, Hearing loss, medicine.disease, Dermatology, Facial appearance, Cupped ears, Hypotelorism, Intellectual disability, otorhinolaryngologic diseases, Genetics, medicine, medicine.symptom, business, Genetics (clinical), Narrow nose
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المؤلفون: Norio Niikawa, C. T. R. M. Stumpel, Giuseppe Merla, Nobuhiko Okamoto, Albert E. Chudley, Siddharth Banka, Andrew W. Lindsley, Jaqueline Harris, Olaf Bodamer, Hiroshi Kawame, Margaret P. Adam, Noriko Miyake, Hans T. Bjornsson, Brendan C. Lanpher
المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Adam, Mp, Banka, S, Bjornsson, Ht, Bodamer, O, Chudley, Ae, Harris, J, Kawame, H, Lanpher, Bc, Lindsley, Aw, Merla, G, Miyake, N, Okamoto, N, Stumpel, Ct, Niikawa, N
المصدر: Journal of Medical Genetics, 56(2), 89-95. BMJ Publishing Group
Kabuki Syndrome Medical Advisory Board 2018, ' Kabuki syndrome : international consensus diagnostic criteria ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2018-105625مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Consensus, 030105 genetics & heredity, 03 medical and health sciences, Cupped ears, EARS, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, KDM6A, Genetics (clinical), Likely pathogenic, Histone Demethylases, Short columella, MUTATIONS, business.industry, Molecular genetic testing, MAKE-UP-SYNDROME, KMT2D, medicine.disease, Hematologic Diseases, Dermatology, Neoplasm Proteins, DNA-Binding Proteins, 030104 developmental biology, medicine.anatomical_structure, Vestibular Diseases, Long palpebral fissure, Face, Mutation, Muscle Hypotonia, Female, Eyelid, business, Kabuki syndrome
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المؤلفون: Sriram Karthik T, Amaresh Reddy P, Radha Rani P, Maheshwari R, Rajendra Prasad N, Bharath R
المصدر: Journal of Clinical and Scientific Research, Vol 2, Iss 2, Pp 108-109 (2013)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, Macroorchidism, business.industry, Testicular volume, Process Chemistry and Technology, Physical examination, medicine.disease, Fragile X syndrome, Fuel Technology, Cupped ears, Feature (computer vision), Attention deficit, Medicine, Anxiety, Economic Geology, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::156a7264abfb98c9507775659ad13c62
https://doi.org/10.15380/2277-5706.jcsr.12.067 -
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المؤلفون: A. L. H. Moss, J. M. Rowe-Jones, M. A. Patton
المصدر: Journal of medical genetics. 29(5)
مصطلحات موضوعية: musculoskeletal diseases, Male, business.industry, Radiography, Brachydactyly, Anatomy, Middle Aged, Toes, medicine.disease, Pedigree, body regions, Fingers, Brachydactyly type C, Cupped ears, Genetics, Medicine, Hallux, Humans, Abnormalities, Multiple, Female, sense organs, business, Genetics (clinical), Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d25e15b5dfc55d5949774d11612e0552
https://pubmed.ncbi.nlm.nih.gov/1583664