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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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::76e13744d1a1b0e21c56a97804c4b21f
https://doi.org/10.1002/ajmg.a.61755

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-2018-105625

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43b63f43aa36b93c742a50f6a383cfa5
https://doi.org/10.1136/jmedgenet-2018-105625

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

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