-
1دورية أكاديمية
المؤلفون: Jones, Kyle B, Goodwin, Alice F, Landan, Maya, Seidel, Kerstin, Tran, Dong‐Kha, Hogue, Jacob, Chavez, Miquella, Fete, Mary, Yu, Wenli, Hussein, Tarek, Johnson, Ramsey, Huttner, Kenneth, Jheon, Andrew H, Klein, Ophir D
المصدر: American Journal of Medical Genetics Part A. 161(7)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Dentistry, Congenital Structural Anomalies, Genetics, Pediatric, Adolescent, Adult, Case-Control Studies, Child, Dermatology, Ectodermal Dysplasia 1, Anhidrotic, Ectodysplasins, Hair, Humans, Iontophoresis, Male, Microscopy, Confocal, Phenotype, Pilocarpine, Reproducibility of Results, Surveys and Questionnaires, Sweat Glands, Young Adult, X-linked hypohidrotic ectodermal dysplasia, ectodysplasin, hair, sweat gland, terminal hair, confocal imaging, pilocarpine iontophoresis, phototrichogram, Clinical Sciences, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/66q517jdTest
-
2
المؤلفون: B. Leo, H. Schneider, J. Hammersen
المصدر: Journal of the European Academy of Dermatology and Venereology. 36:1863-1870
مصطلحات موضوعية: Adult, Ectodermal Dysplasia 1, Anhidrotic, Reproduction, Decision Making, Limb Deformities, Congenital, Dermatology, Ectodysplasins, Middle Aged, Young Adult, Cross-Sectional Studies, Infectious Diseases, Pregnancy, Humans, Female, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c3c2231ff09bfd9cc37f1b707bf16dcTest
https://doi.org/10.1111/jdv.18267Test -
3
المؤلفون: Alix Maria Gregory Sawaya, de Castro, Maria Salete, Nahás Pires Corrêa, Fernanda Nahás, Pires Corrêa, Cristiane, de Almeida Baldini Cardoso, Stella Ferreira, do Amaral, Michele Baffi, Diniz
المصدر: Journal of Clinical Pediatric Dentistry. 45:421-427
مصطلحات موضوعية: Young Adult, stomatognathic diseases, Dental Arch, Ectodermal Dysplasia 1, Anhidrotic, Adolescent, Denture, Complete, stomatognathic system, Quality of Life, Humans, General Medicine, Child, Anodontia, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::732ca3ba96035d1a30775b74e2bf2ccdTest
https://doi.org/10.17796/1053-4625-45.6.9Test -
4
المؤلفون: Verena Hennig, Wolfgang Schuh, Antje Neubert, Dirk Mielenz, Hans-Martin Jäck, Holm Schneider
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Ectodermal Dysplasia 1, Anhidrotic, Fatigue Syndrome, Chronic, Adolescent, Hypohidrotic ectodermal dysplasia, SARS-CoV-2, Research, COVID-19, Chronic fatigue, Alopecia, Hair loss, Middle Aged, Young Adult, Spike Glycoprotein, Coronavirus, Humans, Medicine, Longitudinal Studies, ddc:610, Child
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3826001424130bc6684b6d0193afeec2Test
https://opus4.kobv.de/opus4-fau/files/17677/s13023-021-02011-z.pdfTest -
5
المؤلفون: María Teresa Martínez-Menchon, Guillermo Glover-López, E. Guillén-Navarro, María José Sánchez-Soler, María Barreda-Sánchez, Lidya Rodriguez-Peña, Maria del Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, Paloma Sánchez-Pedreño, Ana Teresa Serrano-Antón, J.F. Frias-Iniesta, Pablo Carbonell-Meseguer
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, Adolescent, DNA Copy Number Variations, lcsh:Medicine, Biology, Edar-Associated Death Domain Protein, Non-syndromic tooth agenesis, Young Adult, symbols.namesake, Ectodermal Dysplasia, Ectodermal derivative impairment, hypohidrotic ectodermal dysplasia, medicine, Humans, Pharmacology (medical), Hypohidrotic ectodermal dysplasia, Multiplex ligation-dependent probe amplification, Allele, Child, Gene, Genetics (clinical), Anodontia, Genetics, Sanger sequencing, Ectodermal Dysplasia 1, Anhidrotic, EDARADD, Edar Receptor, Research, Hypodontia, lcsh:R, Infant, Newborn, Infant, Exons, General Medicine, Middle Aged, EDAR, medicine.disease, Introns, Human genetics, Wnt Proteins, WNT10A, Spain, Child, Preschool, symbols, Female, Ectodysplasin A, EDA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c243be7260d6602d520dfebd84b42ca9Test
https://doi.org/10.1186/s13023-019-1251-xTest -
6
المؤلفون: Céline Dupont, Isabelle Bailleul-Forestier, Anne-Claude Tabet, Joris Vermeesch, Yline Capri, Alain Verloes, Myriam Rachid, Jonathan Levy, Koen Devriendt
المصدر: Clinical geneticsREFERENCES. 97(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Ectodermal dysplasia, animal structures, Lymphoid Enhancer-Binding Factor 1, Mesenchyme, Ectoderm, Oligodontia, Haploinsufficiency, 030105 genetics & heredity, Biology, 03 medical and health sciences, Mice, Young Adult, Ectodermal Dysplasia, Genetics, medicine, Animals, Humans, Hypohidrotic ectodermal dysplasia, Genetics (clinical), beta Catenin, Ectodermal Dysplasia 1, Anhidrotic, Wnt signaling pathway, NF-kappa B, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, embryonic structures, Cancer research, Hypotrichosis, Female, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b7d6fbf3eb0349345609d4aa8c0e715Test
https://pubmed.ncbi.nlm.nih.gov/32022899Test -
7
المؤلفون: C, Linder, L, Monteil, N, Chassaing, L, Costa-Mendes, J, Mazereeuw-Hautier
المصدر: Annales de dermatologie et de venereologie. 147(8-9)
مصطلحات موضوعية: Young Adult, Ectodermal Dysplasia 1, Anhidrotic, Adolescent, Child, Preschool, Humans, Female, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::530758c2665cfa8548a41f0a155773a3Test
https://pubmed.ncbi.nlm.nih.gov/32690319Test -
8
المصدر: Archivos de la Sociedad Espanola de Oftalmologia. 94(4)
مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Ectodermal Dysplasia 1, Anhidrotic, Adolescent, Meibomian Glands, Diagnostic Techniques, Ophthalmological, Middle Aged, Young Adult, Eyelid Diseases, Humans, Female, Atrophy, Child, Aged, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::8e08479b8353d5cb93d1d6c504fed70fTest
https://pubmed.ncbi.nlm.nih.gov/30795945Test -
9
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 -
10
المؤلفون: Rui Zhang, Ran Xu, Hairui Li, Jianfeng Yao, Xiaokang Wu, Le Ren, Peng Xu, Daxu Li, John R. Kelsoe, Yu Tao, Fumeng Huang, Biyuan Wang, Jie Ma, Zijian Jiang
المصدر: Journal of Genetics. 94:115-119
مصطلحات موضوعية: Male, Genetics, China, Ectodermal Dysplasia 1, Anhidrotic, Base Sequence, DNA Mutational Analysis, Mutation, Missense, Ectodysplasins, Biology, medicine.disease, Protein Structure, Tertiary, Young Adult, Exon, Protein structure, medicine, Humans, Missense mutation, Female, Ectodysplasin A, Base sequence, Hypohidrotic ectodermal dysplasia, Chinese family
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdb32e7a8fe0063befeaebb29eeb7ccbTest
https://doi.org/10.1007/s12041-015-0474-4Test
