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المؤلفون: Ronald J.E. Pennings, Patrick L. M. Huygen, Henricus P. M. Kunst, Lies H. Hoefsloot, Ad F. M. Snik, Ronald J.C. Admiraal, E. van Beelen, Joop M. Leijendeckers
المصدر: Audiology and Neurotology. 19:106-114
مصطلحات موضوعية: Vestibular system, medicine.medical_specialty, Physiology, business.industry, GATA3, Audiogram, Audiology, medicine.disease, Sensory Systems, Loudness, Speech and Hearing, medicine.anatomical_structure, Otorhinolaryngology, Hypoparathyroidism, New mutation, otorhinolaryngologic diseases, medicine, Hair cell, business, Flat audiogram
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3ae09a4210171277a4cc6e0d0d07dcdfTest
https://doi.org/10.1159/000356303Test -
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المؤلفون: G. Heimann, Roland Pfäffle, Stephan Wüller, Oliver Blankenstein, C. Kim, R. Mühlenberg
المصدر: Hormone Research in Paediatrics. 56:81-86
مصطلحات موضوعية: medicine.medical_specialty, Mutation, endocrine system diseases, business.industry, Combined pituitary hormone deficiency, Endocrinology, Diabetes and Metabolism, C-terminus, macromolecular substances, Gene mutation, medicine.disease_cause, medicine.disease, Severe hypothyroidism, Congenital hypothyroidism, Endocrinology, Internal medicine, Pediatrics, Perinatology and Child Health, New mutation, medicine, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::43647b066b1b55a8cd89a098d10ba063Test
https://doi.org/10.1159/000048096Test -
3
المؤلفون: Cédric Lenormand, Dan Lipsker
المصدر: Dermatology. 219:99-101
مصطلحات موضوعية: Nosology, Pathology, medicine.medical_specialty, business.industry, Disease expression, Dermatology, Disease, Dermatomyositis, medicine.disease, Loss of heterozygosity, symbols.namesake, New mutation, medicine, Mendelian inheritance, symbols, business, Juvenile dermatomyositis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3dd334c1874aa32fff71d9e727351c29Test
https://doi.org/10.1159/000219245Test -
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المؤلفون: Marta Melis, Milena Cau, Simona Corraine, Simona Secci, Maria Addis, Maurizio Melis
المصدر: Cerebrovascular Diseases. 38:311-312
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Moya moya, medicine.disease, Cavernous malformations, Cerebral cavernous malformations, Neurology, Genetic epidemiology, New mutation, medicine, Neurology (clinical), Moyamoya disease, Cardiology and Cardiovascular Medicine, business, Stroke
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c945f65909686427ee83d8b2096f8b52Test
https://doi.org/10.1159/000368215Test