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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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2
المؤلفون: Laura Körber, Holm Schneider, Nicole Fleischer, Sigrun Maier-Wohlfart
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)مصطلحات موضوعية: Male, Ectodermal Dysplasia 1, Anhidrotic, Genotype–phenotype correlation, Research, lcsh:R, X-chromosome inactivation, lcsh:Medicine, Ectodysplasin A, Ectodysplasins, Chromosomes, Phenotype, Ectodermal Dysplasia, Humans, X-linked hypohidrotic ectodermal dysplasia, Female, ddc:610, Female carriers
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::94f8cfea5e40332b0377205f606b303bTest
https://pubmed.ncbi.nlm.nih.gov/33622384Test -
3
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