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1
المؤلفون: Jennifer Cohen, Sam Salek, Michael Storm, Audra N. Boscoe, Christopher J. Evans, Sarah Piantedosi, Robert J. Klaassen, Rachael F. Grace, Ted Wells, Shayna Egan
المصدر: European Journal of Haematology
مصطلحات موضوعية: Adult, Male, Disease specific, medicine.medical_specialty, Pyruvate Kinase, Pyruvate Metabolism, Inborn Errors, Young Adult, Surveys and Questionnaires, medicine, Humans, Public Health Surveillance, Patient Reported Outcome Measures, Psychiatry, hemolytic anemia, pyruvate kinase deficiency, business.industry, patient‐reported outcome, Original Articles, Anemia, Hemolytic, Congenital Nonspherocytic, Hematology, General Medicine, Middle Aged, medicine.disease, anemia, humanities, Quality of Life, Proofreading, Original Article, Female, Health Impact Assessment, business, Pyruvate kinase deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f9a510905478ed72dc2c0c3d8f55bdbTest
https://doi.org/10.1111/ejh.13376Test -
2
المؤلفون: Elliott Blatt, Shayna Egan, Ashley Dress, Maggie Paulich, Christina Theodore-Oklota, Christopher J. Evans
المصدر: Future Rare Diseases. 1
مصطلحات موضوعية: 03 medical and health sciences, Pediatrics, medicine.medical_specialty, 0302 clinical medicine, business.industry, otorhinolaryngologic diseases, Medicine, 030211 gastroenterology & hepatology, Disease, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1dfb2c624d78062c535a238e87245752Test
https://doi.org/10.2217/frd-2021-0003Test -
3
المؤلفون: Ashley Dress (10916000), Christina Theodore-Oklota (7850876), Shayna Egan (10916001), Maggie Paulich (10916002), Elliott Blatt (10916004), Christopher J. Evans (7767362)
مصطلحات موضوعية: Medical and Health Sciences not elsewhere classified, Wilson disease, survey, patient-reported, rare disease, ATP7B gene
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4
المؤلفون: Adrian Jewett, Shayna Egan, Erin Zagadailov, Feng Tai, Audra N. Boscoe, David A. Andrae, Junlong Li
المصدر: Blood. 138:4144-4144
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Immunology, PK DEFICIENCY, Cell Biology, Hematology, medicine.disease, Biochemistry, Endocrinology, Internal medicine, medicine, Patient-reported outcome, business, Pyruvate kinase, Pyruvate kinase deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::32f1572f079828df3c79e93d4a3bc38eTest
https://doi.org/10.1182/blood-2021-148278Test -
5
المؤلفون: Junlong Li, Feng Tai, Shayna Egan, David A. Andrae, Audra N. Boscoe, Erin Zagadailov, Adrian Jewett
المصدر: Blood. 138:4145-4145
مصطلحات موضوعية: business.industry, Immunology, Medicine, PK DEFICIENCY, Patient-reported outcome, Cell Biology, Hematology, Pharmacology, business, medicine.disease, Biochemistry, Pyruvate kinase, Pyruvate kinase deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::62491fd4ce669ef337a8f9da585883a9Test
https://doi.org/10.1182/blood-2021-148364Test -
6
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 -
7
المؤلفون: Nathan Johnson, Christopher K. Payne, Emad Siddiqui, Christopher R. Chapple, Zalmai Hakimi, Shayna Egan, Con Kelleher, Zoe Kopp, Christopher J. Evans, Yukio Homma
المصدر: Neurourology and Urodynamics. 37:1701-1710
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Urology, 030232 urology & nephrology, Urination, 03 medical and health sciences, 0302 clinical medicine, Patient satisfaction, Quality of life, Surveys and Questionnaires, Humans, Medicine, Nocturia, Physical Examination, Aged, Aged, 80 and over, Urinary bladder, Urinary Bladder, Overactive, business.industry, Cognition, Middle Aged, medicine.disease, Clinical trial, Treatment Outcome, Urinary Incontinence, medicine.anatomical_structure, Overactive bladder, Patient Satisfaction, 030220 oncology & carcinogenesis, Quality of Life, Physical therapy, Anxiety, Female, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fa79ef01a1af9ba10126f46df77d60fTest
https://doi.org/10.1002/nau.23479Test -
8
المؤلفون: Sam Salek, Jennifer Cohen, Robert J. Klaassen, Sarah Piantedosi, Mike Storm, Christopher J. Evans, Ted Wells, Shayna Egan, Rachael F. Grace, Audra N. Boscoe
المصدر: Blood. 134:3447-3447
مصطلحات موضوعية: Hemolytic anemia, medicine.medical_specialty, business.industry, medicine.medical_treatment, Immunology, Splenectomy, Cell Biology, Hematology, Iron chelation therapy, medicine.disease, Biochemistry, humanities, Patient Self-Report, Internal medicine, medicine, Patient-reported outcome, medicine.symptom, business, Bone pain, Pyruvate kinase, Pyruvate kinase deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6d1f73282c8460e2ace7bd32ef9af19dTest
https://doi.org/10.1182/blood-2019-128524Test -
9
المؤلفون: Sam Salek, Shayna Egan, Susan Bodie, Robert J. Klaassen, Rachael F. Grace, Brooke Witherspoon, A. Ryan, Jennifer Cohen, Ted Wells
المصدر: European journal of haematology. 101(6)
مصطلحات موضوعية: Hemolytic anemia, medicine.medical_specialty, Activities of daily living, Anemia, Emotions, Pyruvate Kinase, Disease, Pyruvate Metabolism, Inborn Errors, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Cost of Illness, Internal medicine, Activities of Daily Living, Medicine, Humans, Health related quality of life, business.industry, Cognition, Hematology, General Medicine, Anemia, Hemolytic, Congenital Nonspherocytic, medicine.disease, Self Concept, 030220 oncology & carcinogenesis, Quality of Life, Perception, Disease Susceptibility, Symptom Assessment, business, 030215 immunology, Pyruvate kinase deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a225dbef0782652b2c5e433bcadc6a3Test
https://pubmed.ncbi.nlm.nih.gov/29935049Test