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1دورية أكاديمية
المؤلفون: Bangun, Kristaninta, Kreshanti, Prasetyanugraheni, Tania, Vika, Ariani Aswin, Yulia, Menna, Clara, Aurino, Leorca
المصدر: Cleft Palate Craniofacial Journal; Mar2024, Vol. 61 Issue 3, p527-533, 7p
مصطلحات موضوعية: TOE abnormalities, MOSAICISM, AUDITORY perception testing, EPILEPSY, CLEFT palate, MICROCEPHALY, KARYOTYPES, DEVELOPMENTAL disabilities, CUTANEOUS manifestations of general diseases, CLEFT lip, CHROMOSOME abnormalities, HEALTH care teams, HEARING disorders, COMPUTED tomography, CAFE-au-Lait spots (Disease), INTELLECTUAL disabilities, RARE diseases, EARLY diagnosis, NEUROLOGIC examination, SYMPTOMS
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2دورية أكاديمية
المؤلفون: Gilbert-Dussardier, Brigitte, Briand-Suleau, Audrey, Laurendeau, Ingrid, Bilan, Frédéric, Cavé, Hélène, Verloes, Alain, Vidaud, Michel, Vidaud, Dominique, Pasmant, Eric
المصدر: Orphanet Journal of Rare Diseases; 7/22/2016, Vol. 11, p1-4, 4p
مصطلحات موضوعية: MITOGEN-activated protein kinases, GENETIC disorders, GENETIC mutation, CAFE-au-Lait spots (Disease), CHROMOSOME abnormalities
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3دورية أكاديمية
المؤلفون: Dunleavy, Alicia, Carmouche, Jonathan
المصدر: JAAPA: Journal of the American Academy of Physician Assistants (Lippincott Williams & Wilkins); May2021, Vol. 34 Issue 5, p52-53, 2p
مصطلحات موضوعية: LUMBAR pain, MUSCLE relaxants, ANTI-inflammatory agents, SPINAL cord diseases, MAGNETIC resonance imaging, NEUROFIBROMA, SCOLIOSIS, CHROMOSOME abnormalities, NEUROFIBROMATOSIS, ORTHOPEDICS, LUMBAR vertebrae, ABNORMAL reflexes, H-reflex, COMPUTED tomography, CAFE-au-Lait spots (Disease)
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4دورية أكاديمية
المؤلفون: Benelli, Elisa, Bruno, Irene, Belcaro, Chiara, Ventura, Alessandro, Berti, Irene
المصدر: Italian Journal of Pediatrics; 2015, Vol. 41 Issue 1, p1-4, 4p
مصطلحات موضوعية: NEUROFIBROMATOSIS 1, CHROMOSOME abnormalities, FAMILY history (Medicine), CAFE-au-Lait spots (Disease), DIAGNOSIS, THERAPEUTICS