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1دورية أكاديمية
المؤلفون: Amy S. Paller, Elena Pope, Dan Rudin, Anna Malyala, Deborah Ramsdell, Ramsey Johnson, Hal Landy, Dedee F. Murrell, the DEB Investigators
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)
مصطلحات موضوعية: Dystrophic epidermolysis bullosa, Clinician-assessed outcomes, Quality of life, Patient-reported outcomes, Disease severity, Outcome measures, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Sigrun Wohlfart, Ralph Meiller, Johanna Hammersen, Jung Park, Johannes Menzel-Severing, Volker O. Melichar, Kenneth Huttner, Ramsey Johnson, Florence Porte, Holm Schneider
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
مصطلحات موضوعية: Hypohidrotic ectodermal dysplasia, Natural history, Ectodysplasin A, Oligodontia, Dry eye, Heat intolerance, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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المؤلفون: Amy S, Paller, Elena, Pope, Dan, Rudin, Anna, Malyala, Deborah, Ramsdell, Ramsey, Johnson, Hal, Landy, Dedee F, Murrell
المصدر: Orphanet journal of rare diseases. 17(1)
مصطلحات موضوعية: Adolescent, Quality of Life, Humans, Pharmacology (medical), General Medicine, Prospective Studies, Epidermolysis Bullosa, Severity of Illness Index, Genetics (clinical), Epidermolysis Bullosa Dystrophica
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22a6ede06dbadc2c19f09c05a646ebb0Test
https://pubmed.ncbi.nlm.nih.gov/35964087Test -
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المؤلفون: Volker O. Melichar, Kenneth M. Huttner, Johannes Menzel-Severing, Jung Park, Johanna Hammersen, Ramsey Johnson, Sigrun Wohlfart, R. Meiller, Florence Porte, Holm Schneider
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Genotype, Oligodontia, Natural history, lcsh:Medicine, Dry eye, Ectodysplasin A, Physical examination, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Medizinische Fakultät, Surveys and Questionnaires, Deciduous teeth, medicine, Humans, Pharmacology (medical), Hypohidrotic ectodermal dysplasia, ddc:610, Anhidrosis, Genetics (clinical), Retrospective Studies, Ectodermal Dysplasia 1, Anhidrotic, Anthropometry, Dentition, medicine.diagnostic_test, business.industry, Research, lcsh:R, Infant, General Medicine, Ectodysplasins, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Heat intolerance, Hypotrichosis, Female, medicine.symptom, business, Natural history study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98d046d56a7f66dea3834cedb4dbe884Test
https://opus4.kobv.de/opus4-fau/files/14412/Wohlfart_natural.pdfTest -
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المؤلفون: Emad Bahrami-Samani, Philip J. Uren, Ramsey Johnson, Lisa D. McDaniel, Catherine Terhaar, Jennifer C. Luque
المصدر: Fertility and Sterility. 112:e258
مصطلحات موضوعية: Reproductive Medicine, business.industry, media_common.quotation_subject, Obstetrics and Gynecology, Medicine, Fertility, Disease, business, Demography, media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5e221529e9c80d6f011ff36cc8a35ea9Test
https://doi.org/10.1016/j.fertnstert.2019.07.779Test -
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المؤلفون: Ophir D. Klein, Rosalie Brao, Zhifeng Wang, Maya Landan, Benedikt Hallgrímsson, Dorothy K. Grange, Margaret Langham, Snehlata Oberoi, Richard A. Spritz, Ramsey Johnson, Jacinda R. Larson, Kenneth M. Huttner, Vagan Mushegyan, Andrew H. Jheon, Anne Boekelheide, Alice F. Goodwin, Timothy Wen, Kyle B. Jones, Denise K. Liberton
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: Ectodermal dysplasia, Pathology, medicine.medical_specialty, 03 medical and health sciences, 0302 clinical medicine, 3D imaging, Genetics, medicine, X-linked hypohidrotic ectodermal dysplasia, Hypohidrotic ectodermal dysplasia, Craniofacial, geometric morphometrics, Molecular Biology, Genetics (clinical), ectodysplasin, 030304 developmental biology, 0303 health sciences, Philtrum, EDARADD, business.industry, Mandible, Original Articles, 030206 dentistry, Anatomy, craniofacial development, medicine.disease, Hypoplasia, Chin, medicine.anatomical_structure, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85d7560e5266662508f5c031b2f7d319Test
https://doi.org/10.1002/mgg3.84Test -
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المؤلفون: Andrew H. Jheon, Kenneth M. Huttner, Maya Landan, Ophir D. Klein, Jacob Hogue, Alice F. Goodwin, Wenli Yu, Ramsey Johnson, Dong-Kha Tran, Mary Fete, Tarek Hussein, Miquella G. Chavez, Kyle B. Jones, Kerstin Seidel
المصدر: American journal of medical genetics. Part A, vol 161A, iss 7
مصطلحات موضوعية: Male, Pathology, Ectodermal dysplasia, terminal hair, Terminal hair, SWEAT, pilocarpine iontophoresis, Surveys and Questionnaires, Child, Genetics (clinical), ectodysplasin, Pediatric, Microscopy, Microscopy, Confocal, integumentary system, Pilocarpine, Anatomy, Ectodysplasins, Iontophoresis, Phenotype, medicine.anatomical_structure, Anhidrotic, Confocal, Ectodermal Dysplasia 1, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Clinical Sciences, Dermatology, Biology, confocal imaging, sweat gland, Article, Young Adult, phototrichogram, Sweat gland, Genetics, medicine, X-linked hypohidrotic ectodermal dysplasia, Humans, Hypohidrotic ectodermal dysplasia, Ectodermal Dysplasia 1, Anhidrotic, Reproducibility of Results, hair, medicine.disease, Sweat Glands, Case-Control Studies, Congenital Structural Anomalies, Hair
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0969bba469146c916b9f8901945bbed8Test
https://doi.org/10.1002/ajmg.a.35959Test -
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المؤلفون: Thomas Kaercher, Ramsey Johnson, Theodor Zimmermann, Holm Schneider, Kenneth M. Huttner, Anne-Theres Schneider, Jasna Dietz
المصدر: European Journal of Pediatrics. 172:1023-1031
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Ectodermal dysplasia, Adolescent, Nitric Oxide, Pulmonary function testing, SWEAT, Xerophthalmia, medicine, Humans, Hypohidrotic ectodermal dysplasia, Child, Lung, Asthma, Inflammation, Dentition, business.industry, Lacrimal Apparatus, Case-control study, Genetic Diseases, X-Linked, Ectodysplasins, Middle Aged, medicine.disease, Dermatology, Respiratory Function Tests, Sweat Glands, Case-Control Studies, Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive, Tears, Mutation, Pediatrics, Perinatology and Child Health, Exhaled nitric oxide, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::215c12a1916adaa5a556233749c492c2Test
https://doi.org/10.1007/s00431-013-1985-8Test -
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المؤلفون: Lu Gan, Emily Dick, David C. Dale, Ramsey Johnson, Merideth L. Kelley, Sudha Parasuraman, Audrey Anna Bolyard, Vahagn Makaryan
المصدر: Blood. 130:995-995
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Immunology, Phases of clinical research, Cell Biology, Hematology, Neutropenia, medicine.disease, Biochemistry, Granulocyte colony-stimulating factor, Hypogammaglobulinemia, 03 medical and health sciences, 030104 developmental biology, Tolerability, Internal medicine, Medicine, Lymphocytopenia, Adverse effect, business, WHIM syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c5a542a97097c264297c9b7a4ff71668Test
https://doi.org/10.1182/blood.v130.suppl_1.995.995Test