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1دورية أكاديمية
المؤلفون: Kelly K. Barry, Michaelangelo Tsaparlis, Deborah Hoffman, Deborah Hartman, Margaret P. Adam, Christina Hung, Olaf A. Bodamer
المصدر: Genes, Vol 13, Iss 10, p 1761 (2022)
مصطلحات موضوعية: Kabuki syndrome, Niikawa–Kuroki syndrome, transcription, KMT2D, KDM6A, Genetics, QH426-470
وصف الملف: electronic resource
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2
المصدر: Advances in Therapy
مصطلحات موضوعية: Adolescent, media_common.quotation_subject, Population, Disease, Adolescents, Quality of life (healthcare), Perception, medicine, Humans, Pharmacology (medical), Abnormalities, Multiple, education, Survey, media_common, Original Research, Humanistic burden, education.field_of_study, Kabuki syndrome, business.industry, Perspective (graphical), General Medicine, medicine.disease, Hematologic Diseases, Patient research, United States, Caregivers, Vestibular Diseases, Face, Patient burden, Quality of Life, business, Psychosocial, Qualitative research, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18f344a80dd9d3a07926421e340a0822Test
http://europepmc.org/articles/PMC8799562Test -
3
المؤلفون: Maggie Paulich, Christina Theodore-Oklota, Hans T. Bjornsson, Deborah S. Hartman, Shayna Egan, Deborah Hoffman, Christopher J. Evans
المساهمون: Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland
المصدر: American Journal of Medical Genetics. Part a
مصطلحات موضوعية: Adult, Male, Parents, medicine.medical_specialty, Emotions, Burden, Erfðasjúkdómar, Infections, Affect (psychology), burden, Young Adult, Seizures, Surveys and Questionnaires, Patient experience, Genetics, medicine, Humans, Abnormalities, Multiple, survey, Hearing Loss, Psychiatry, Survey, caregiver, Genetics (clinical), Depression (differential diagnoses), Kabuki syndrome, business.industry, Genetic disorder, Original Articles, Middle Aged, medicine.disease, Caregiver, Hematologic Diseases, Additional research, Caregivers, Vestibular Diseases, Face, Autism, Anxiety, Female, Original Article, medicine.symptom, Deglutition Disorders, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4293dc8334bb01ed3d9793e785bf8098Test
https://hdl.handle.net/20.500.11815/2311Test