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1دورية أكاديمية
المؤلفون: Siobhan Connor-Ahmad, Jorrit Tjeertes, Michael Chladek, Louise Newton, Tara Symonds, Susanne Clinch, Brenda Vincenzi, Fiona McDougall
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
مصطلحات موضوعية: Angelman syndrome, Caregivers, Children, Clinical outcome assessment, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Eugen Mengel, Marc C. Patterson, Michael Chladek, Christina Guldberg, Christine í Dali, Tara Symonds, Lucy Lloyd-Price, Toni Mathieson, Joslyn Crowe, Claire Burbridge
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
مصطلحات موضوعية: Niemann pick Type-C, NPC, Impacts, Illness burden, Qualitative, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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3دورية أكاديمية
المؤلفون: Marc C. Patterson, Lucy Lloyd-Price, Christina Guldberg, Helen Doll, Claire Burbridge, Michael Chladek, Christine íDali, Eugen Mengel, Tara Symonds
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
مصطلحات موضوعية: Niemann-pick type C clinical severity scale, NPCCSS, ClinRO, Validation, Arimoclomol, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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4
المؤلفون: Christina Graham, Michael Chladek, Alise Nacson, Laurie Batchelder, Laura Gleeson, Ana Buenfil, Emily Kim, Oren Meyers, Betsy Williams
المصدر: Thursday, April 27.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::62d55bbdbfe8f56ecbc502df794ae387
https://doi.org/10.1212/wnl.0000000000203966 -
5
المؤلفون: Michael Chladek
المصدر: The Journal of Asian Studies. 80:975-995
مصطلحات موضوعية: Cultural Studies, History, 060101 anthropology, 05 social sciences, 0507 social and economic geography, 0601 history and archaeology, 06 humanities and the arts, 050701 cultural studies
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6
المؤلفون: Tara Symonds, Lucy Lloyd-Price, Christina Guldberg, Michael Chladek, Christine íDali, Marc C. Patterson, Claire Burbridge, Helen Doll, Eugen Mengel
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: medicine.medical_specialty, Arimoclomol, Psychometrics, lcsh:Medicine, Disease, Surveys and Questionnaires, Validation, Content validity, Criterion validity, Medicine, Humans, Pharmacology (medical), Disabled Persons, Genetics (clinical), business.industry, Research, lcsh:R, Construct validity, Reproducibility of Results, Cognition, Niemann-Pick Disease, Type C, General Medicine, Clinical trial, Convergent validity, Niemann-pick type C clinical severity scale, NPCCSS, Physical therapy, Age of onset, ClinRO, business
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7
المؤلفون: Tara Symonds, Lucy Lloyd-Price, Eugen Mengel, Christina Guldberg, Michael Chladek, Christine í Dali, Toni Mathieson, Claire Burbridge, Marc C. Patterson, Joslyn Crowe
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)مصطلحات موضوعية: Adult, Gerontology, Activities of daily living, media_common.quotation_subject, Disease, Niemann pick Type-C, Quality of life, Surveys and Questionnaires, Activities of Daily Living, otorhinolaryngologic diseases, medicine, Humans, Pharmacology (medical), Social isolation, Genetics (clinical), media_common, Illness burden, Family caregivers, business.industry, Research, Infant, Niemann-Pick Disease, Type C, General Medicine, Caregiver burden, humanities, stomatognathic diseases, Caregivers, Impacts, Quality of Life, Medicine, medicine.symptom, Age of onset, Worry, NPC, Qualitative, business
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8
المؤلفون: Claire Burbridge, Stacie Hudgens, Marc C. Patterson, Christine í Dali, Tara Symonds, Christina Guldberg, Michael Chladek, Lucy Lloyd-Price, Eugen Mengel, Helen Doll
المصدر: Molecular Genetics and Metabolism. 132:S82-S83
مصطلحات موضوعية: Endocrinology, Scale (ratio), Computer science, Endocrinology, Diabetes and Metabolism, Genetics, Clinical severity, Molecular Biology, Biochemistry, Algorithm, Domain (software engineering)
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9
المؤلفون: Joslyn Crowe, Marc C. Patterson, Toni Mathieson, Christine í Dali, Michael Chladek, Claire Burbridge, Lucy Lloyd-Price, Tara Symonds, Eugen Mengel, Christina Guldberg
المصدر: Molecular Genetics and Metabolism. 132:S71
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Niemann–Pick disease, type C, business.industry, Endocrinology, Diabetes and Metabolism, Perspective (graphical), Genetics, medicine, Psychiatry, medicine.disease, business, Molecular Biology, Biochemistry