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المؤلفون: Elena Y. Startseva, Ksenia K. Zakomoldina, Oleg R. Ziganshin, Olga I. Letyaeva, Olga V. Bobrova
المصدر: Russian Journal of Skin and Venereal Diseases. 24:179-186
مصطلحات موضوعية: Nervous system, Pathology, medicine.medical_specialty, Ectodermal dysplasia, animal structures, business.industry, Applied Mathematics, General Mathematics, medicine.disease, Phenotype, medicine.anatomical_structure, Epidermal growth factor, Dysplasia, embryonic structures, medicine, Ectodysplasin A, Epidermis, business, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8207ce131926749721fcc291e8c75f8bTest
https://doi.org/10.17816/dv64274Test -
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المؤلفون: J. R. Engracia Filho, D M Sás, Enio Moura, M. R. Farias, S R T Daltro, Cláudia Turra Pimpão
المصدر: Journal of Small Animal Practice. 62:1127-1130
مصطلحات موضوعية: Genetics, Ectodermal dysplasia, 040301 veterinary sciences, business.industry, 0402 animal and dairy science, Intron, 04 agricultural and veterinary sciences, medicine.disease, 040201 dairy & animal science, 0403 veterinary science, Exon, Dysplasia, medicine, Ectodysplasin A, Hypohidrotic ectodermal dysplasia, Small Animals, Transversion, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::85d44783b3242b048276e1a58c7263cfTest
https://doi.org/10.1111/jsap.13385Test -
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المؤلفون: Mario Tumminello, Melania Guardino, Federico Matina, Giovanni Corsello, Bianca Lea Giuffrè, Antonella Gangemi
المساهمون: Mario Tumminello, Antonella Gangemi, Federico Matina, Melania Guardino, Bianca Lea Giuffrè, Giovanni Corsello
المصدر: Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-5 (2021)
Italian Journal of Pediatricsمصطلحات موضوعية: Male, 0301 basic medicine, Proband, Mutation, Missense, Variants of uncertain significance (VUS), Case Report, X-linked, 030105 genetics & heredity, Pediatrics, RJ1-570, 03 medical and health sciences, EDA gene, Humans, Medicine, Missense mutation, Hypohidrotic ectodermal dysplasia, X chromosome, Hemizygote, Genetics, Chromosomes, Human, X, Ectodermal Dysplasia 1, Anhidrotic, business.industry, Infant, Newborn, Genetic disorder, General Medicine, Ectodysplasins, medicine.disease, Hypoidrotic ectodermal dysplasia, Hypodontia, 030104 developmental biology, Hypotrichosis, Ectodysplasin A, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a95e33c2770c285f65c0fbd75b251e0dTest
https://doaj.org/article/5c628d673df94e2782be94377f8724ccTest -
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المؤلفون: Bin Ma, Qing-Hua Zhang, Sheng-Ju Hao, Tian-Gang Li, Chong-Li Guan, Hong-Xia Tie
المصدر: Journal of Clinical Ultrasound. 49:838-840
مصطلحات موضوعية: medicine.medical_specialty, Unusual case, business.industry, Genetic disorder, Prenatal diagnosis, 030204 cardiovascular system & hematology, medicine.disease, Umbilical cord, Dermatology, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Dysplasia, medicine, Radiology, Nuclear Medicine and imaging, Ectodysplasin A, Hypohidrotic ectodermal dysplasia, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6c6ed723d5625488f8b03da95454914aTest
https://doi.org/10.1002/jcu.23020Test -
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المؤلفون: William Murray Thomson, Azza H. Al‐Ani, Tony R. Merriman, Ruth Topless, Mauro Farella, Joseph S Antoun
المساهمون: Al-Ani, A. H., Antoun, J. S., Thomson, W. M., Topless, R., Merriman, T. R., Farella, M.
المصدر: Orthodontics & Craniofacial Research. 24:155-163
مصطلحات موضوعية: single nucleotide, medicine.medical_specialty, Candidate gene, Adolescent, Orthodontics, polymorphism, 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), Internal medicine, medicine, AXIN2, Humans, 030212 general & internal medicine, Odontogenesi, Anodontia, business.industry, Case-control study, DNA, 030206 dentistry, Odds ratio, Ectodysplasins, medicine.disease, stomatognathic diseases, Hypodontia, Otorhinolaryngology, Case-Control Studies, hypodontia, Odontogenesis, Female, Surgery, Ectodysplasin A, genetic, Oral Surgery, Case-Control Studie, business, PAX9, Human
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aa4295eb7a482e9fb1acfcd6eee945cTest
https://doi.org/10.1111/ocr.12419Test -
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المؤلفون: Poonkiat Suchonwanit, Kanchana Leerunyakul
المصدر: Clinical, Cosmetic and Investigational Dermatology. 13:309-318
مصطلحات موضوعية: Pathology, medicine.medical_specialty, integumentary system, business.industry, Dermatology, medicine.disease, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Lupus Panniculitis, Hair loss, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Hair Disorder, Scalp, otorhinolaryngologic diseases, medicine, Ectodysplasin A receptor, sense organs, Large diameter, business, Cuticle (hair)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::780ceda92635d2c19b3b227cccbe7272Test
https://doi.org/10.2147/ccid.s247390Test -
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المؤلفون: Dorothy K. Grange, Angus John Clarke, Ophir D. Klein, Iris Körber, Christine Bodemer, Silvia Maitz, Kenneth M. Huttner, Neil Kirby, Caroline Durand, Florian Faschingbauer, Patrick Morhart, Holm Schneider
المصدر: British Journal of Clinical Pharmacology
British journal of clinical pharmacology, vol 86, iss 10مصطلحات موضوعية: Adult, Male, Ectodermal dysplasia, drug safety, Research Subjects, Recombinant Fusion Proteins, Physiology, Disease, immunogenicity, 030226 pharmacology & pharmacy, 03 medical and health sciences, 0302 clinical medicine, Immune system, Pregnancy, protein replacement, medicine, Animals, Humans, Pharmacology (medical), prenatal therapy, 030212 general & internal medicine, Hypohidrotic ectodermal dysplasia, Pharmacology & Pharmacy, ddc:610, Pharmacology, biology, business.industry, Immunogenicity, Infant, Newborn, Infant, Pharmacology and Pharmaceutical Sciences, Original Articles, Ectodysplasins, medicine.disease, Immunoglobulin Fc Fragments, ectodermal dysplasia, Clinical trial, In utero, ectodysplasin A, biology.protein, Female, Original Article, Antibody, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1209e48b7fae4794bca20633f033eeeTest
http://europepmc.org/articles/PMC7495278Test -
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المؤلفون: Neda Mokhberian, Ziba Morovvati, Simindokht Salavitabar, Marzieh Rahbaran, Maryam Hassani Doabsari, Saeid Morovvati
المصدر: Cellular & Molecular Biology Letters, Vol 24, Iss 1, Pp 1-8 (2019)
Cellular & Molecular Biology Lettersمصطلحات موضوعية: 0301 basic medicine, Male, Dysplasia, Biochemistry, Gene, Frameshift mutation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, Research Letter, Humans, Hypohidrotic ectodermal dysplasia, lcsh:QH573-671, Child, Frameshift Mutation, Molecular Biology, Sanger sequencing, Genetics, EDARADD, Ectodermal Dysplasia 1, Anhidrotic, business.industry, lcsh:Cytology, Cell Biology, Ectodermal, Ectodysplasins, medicine.disease, Pedigree, Hypohidrotic, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), symbols, Ectodysplasin A, Female, business, EDA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23157d9bb2c322881c968071a3be73d8Test
http://link.springer.com/article/10.1186/s11658-019-0174-9Test -
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المؤلفون: Clara-Sophie Kossel, Mandy Wahlbuhl, Sonia Schuepbach-Mallepell, Jung Park, Christine Kowalczyk-Quintas, Michaela Seeling, Klaus von der Mark, Pascal Schneider, Holm Schneider
المصدر: Frontiers in Genetics, Vol 12 (2021)
Frontiers in genetics, vol. 12, pp. 709736
Frontiers in Geneticsمصطلحات موضوعية: medicine.medical_specialty, Ectodermal dysplasia, Bone density, NF-κB, bone, development, ectodermal dysplasia, ectodysplasin A1, fetal therapy, QH426-470, Osteoclast, Internal medicine, medicine, Genetics, ddc:610, Hypohidrotic ectodermal dysplasia, Genetics (clinical), Original Research, integumentary system, business.industry, Hair follicle, medicine.disease, Skeleton (computer programming), medicine.anatomical_structure, Endocrinology, Molecular Medicine, Hypotrichosis, Cortical bone, business
وصف الملف: application/pdf; image/tiff
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4302efa29d4f21efc017b55560f9f3dTest
https://www.frontiersin.org/articles/10.3389/fgene.2021.709736/fullTest -
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المؤلفون: Magdalene K. Montgomery, Wendy A. Brown, Yazmin Johari Halim Shah, Matthew J. Watt, Paul Burton, Jacqueline Bayliss, William De Nardo, William Kemp, Stuart K. Roberts, Geraldine J. Ooi, Catriona McLean
المصدر: Frontiers in Endocrinology, Vol 12 (2021)
Frontiers in Endocrinologyمصطلحات موضوعية: 0301 basic medicine, Male, Endocrinology, Diabetes and Metabolism, Biopsy, Type 2 diabetes, Gastroenterology, lcsh:Diseases of the endocrine glands. Clinical endocrinology, type 2 diabetes (T2DM), Body Mass Index, 0302 clinical medicine, Endocrinology, Fibrosis, Non-alcoholic Fatty Liver Disease, hepatokine, Original Research, medicine.diagnostic_test, Fatty liver, Ectodysplasins, Middle Aged, Liver, Liver biopsy, Biomarker (medicine), Cytokines, 030211 gastroenterology & hepatology, Female, Adult, medicine.medical_specialty, digestive system, Sensitivity and Specificity, 03 medical and health sciences, Insulin resistance, Internal medicine, medicine, Humans, Obesity, RNA, Messenger, Inflammation, lcsh:RC648-665, business.industry, nutritional and metabolic diseases, medicine.disease, digestive system diseases, 030104 developmental biology, Cross-Sectional Studies, Diabetes Mellitus, Type 2, ROC Curve, ectodysplasin A, Ectodysplasin A, Steatosis, Insulin Resistance, business, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a17ada2f21662671d35dd55f1d98777Test
https://pubmed.ncbi.nlm.nih.gov/33746906Test