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1دورية أكاديمية
المؤلفون: Marina Cerezo-Cayuelas, Amparo Pérez-Silva, Clara Serna-Muñoz, Ascensión Vicente, Yolanda Martínez-Beneyto, Inmaculada Cabello-Malagón, Antonio José Ortiz-Ruiz
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)
مصطلحات موضوعية: Ectodermal dysplasia, Orthodontic treatment, Dentofacial orthopedic treatment, Anhidrotic ectodermal dysplasia, Hidrotic ectodermal dysplasia, Hypohidrotic ectodermal dysplasia, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المصدر: Przegląd Dermatologiczny, Vol 107, Iss 6, Pp 557-561 (2021)
مصطلحات موضوعية: hypohidrotic ectodermal dysplasia, anhidrotic ectodermal dysplasia, x-linked hypohidrotic ectodermal dysplasia, christ-siemens-touraine syndrome., Medicine, Dermatology, RL1-803
وصف الملف: electronic resource
العلاقة: https://www.termedia.pl/Hypohidrotic-ectodermal-dysplasia,56,43357,1,1.htmlTest; https://doaj.org/toc/0033-2526Test; https://doaj.org/toc/2084-9893Test
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3دورية أكاديمية
المؤلفون: Miwako Toyohara, Yuko Kajiho, Etsushi Toyofuku, Chie Takahashi, Keiho Owada, Shoichiro Kanda, Yutaka Harita, Hidenori Ohnishi, Taizo Wada, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Akira Oka
المصدر: Clinical Case Reports, Vol 9, Iss 11, Pp n/a-n/a (2021)
مصطلحات موضوعية: genetic counseling, incontinentia pigmenti, Pneumocystis jirovecii pneumonia, X‐linked anhidrotic ectodermal dysplasia with immunodeficiency, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2050-0904Test
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4دورية أكاديمية
المؤلفون: Коnkin D. Е., Bartsevich I. G., Brynina А. V., Kholad Y. Т.
المصدر: Žurnal Grodnenskogo Gosudarstvennogo Medicinskogo Universiteta, Vol 16, Iss 4, Pp 493-496 (2018)
مصطلحات موضوعية: Krist-Seimens-Turen syndrome, anhidrotic ectodermal dysplasia, atopic dermatitis, Medicine
وصف الملف: electronic resource
العلاقة: http://journal-grsmu.by/index.php/ojs/article/view/2308/2108Test; https://doaj.org/toc/2221-8785Test; https://doaj.org/toc/2413-0109Test
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5
المؤلفون: Hampapathalu A. Nagarajaram, Gandham SriLakshmi Bhavani, Prajnya Ranganath, Ashwin Dalal, Rekha Gupta, Sumita Danda, Aishwarya Gholse, Ajay K. Chaudhary, Murali D. Bashyam, Atanu Kumar Dutta, Hariharan V Sankar, Katta M. Girisha, Shubha Rao Phadke, Neerja Gupta
المصدر: American Journal of Medical Genetics Part A. 188:788-805
مصطلحات موضوعية: Furin, Genetics, Ectodermal Dysplasia 1, Anhidrotic, Transition (genetics), Limb Deformities, Congenital, Genetic disorder, Ectodysplasins, Biology, medicine.disease, Pedigree, Exon, Ectodermal Dysplasia, Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive, biology.protein, medicine, Humans, Missense mutation, Hypohidrotic ectodermal dysplasia, Global developmental delay, Transversion, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2be50c8020ca4566606a5daa9f6d1dTest
https://doi.org/10.1002/ajmg.a.62579Test -
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المؤلفون: Prashant Ranjan, Parimal Das
المصدر: Journal of Cellular Biochemistry. 123:431-449
مصطلحات موضوعية: Ectodermal Dysplasia 1, Anhidrotic, In silico, Point mutation, Mutant, Mutation, Missense, Computational Biology, Cell Biology, Computational biology, Ectodysplasins, Biology, medicine.disease, Biochemistry, Phenotype, Molecular Docking Simulation, Structure-Activity Relationship, Amino Acid Substitution, medicine, Humans, Missense mutation, Ectodysplasin A, Hypohidrotic ectodermal dysplasia, Molecular Biology, Function (biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72964c5da4046256757885d68c1c99dbTest
https://doi.org/10.1002/jcb.30186Test -
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المؤلفون: Nobuyuki Asano, Shuichiro Yasuno, Ryota Hayashi, Yutaka Shimomura
المصدر: The Journal of Dermatology. 48:1533-1541
مصطلحات موضوعية: Hypohidrosis, Genetics, Ectodermal Dysplasia 1, Anhidrotic, EDARADD, Mutant, Limb Deformities, Congenital, Genetic disorder, Dermatology, General Medicine, Ectodysplasins, Biology, Edar-Associated Death Domain Protein, medicine.disease, Mutation, medicine, Humans, Missense mutation, Hypotrichosis, Hypohidrotic ectodermal dysplasia, EDARADD gene, Anodontia, Death domain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f55d21f71369b04977ed0adf8dd758b9Test
https://doi.org/10.1111/1346-8138.16044Test -
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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: Nikolay N. Murashkin, Alexander I. Materikin, Eduard T. Ambarchian, Roman V. Epishev, Leonid A. Opryatin, Roman A. Ivanov, Daria S. Kukoleva, Daria G. Kuptsova, Alexander A. Pushkov, Marina Yu. Pomazanova, Yana V. Kozyr
المصدر: Voprosy Sovremennoj Pediatrii, Vol 19, Iss 6, Pp 483-489 (2020)
مصطلحات موضوعية: 0301 basic medicine, Ectodermal dysplasia, medicine.medical_specialty, multimorbidity, Uncombable hair syndrome, Pediatrics, RJ1-570, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, children, Monilethrix, Congenital ichthyosis, medicine, congenital anhidrotic (hypohydrotic) ectodermal dysplasia, business.industry, Ichthyosis, molecular genetic testing, psoriasis, medicine.disease, Dermatology, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Hypotrichosis, Pityriasis rubra pilaris, ichthyosis, Epidermolysis bullosa, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cca6673081f5be41613f666424dc9bc5Test
https://doi.org/10.15690/vsp.v19i6.2155Test -
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المؤلفون: Takayuki Suyama, Nao Kusutani, Hiroto Yanagisawa, Yoshio Kiyohara, Shusuke Yoshikawa, Tomoyuki Kamijo, Yutaka Shimomura, Satoshi Komori
المصدر: European journal of dermatology : EJD. 31(5)
مصطلحات موضوعية: Adult, Male, Keratoacanthoma, medicine.medical_specialty, Ectodermal Dysplasia 1, Anhidrotic, Skin Neoplasms, business.industry, Dermatology, medicine.disease, Head and Neck Neoplasms, medicine, Carcinoma, Squamous Cell, Humans, Basal cell, Hypohidrotic ectodermal dysplasia, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79e564364be2b522a9d346014381efe8Test
https://pubmed.ncbi.nlm.nih.gov/34726157Test