-
1
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 -
2
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 -
3
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 -
4
المؤلفون: Taizo Wada, Hidenori Ohnishi, Shoichiro Kanda, Etsushi Toyofuku, Hirokazu Kanegane, Tomohiro Morio, Yuko Kajiho, Keiho Owada, Chie Takahashi, Yutaka Harita, Miwako Toyohara, Akira Oka, Kohsuke Imai
المصدر: Clinical Case Reports, Vol 9, Iss 11, Pp n/a-n/a (2021)
Clinical Case Reportsمصطلحات موضوعية: medicine.medical_specialty, Ectodermal dysplasia, congenital, hereditary, and neonatal diseases and abnormalities, Medicine (General), Genetic counseling, Case Report, X‐linked anhidrotic ectodermal dysplasia with immunodeficiency, Pneumocystis pneumonia, R5-920, medicine, skin and connective tissue diseases, Immunodeficiency, Pregnancy, genetic counseling, business.industry, Pneumocystis jirovecii Pneumonia, General Medicine, Incontinentia pigmenti, medicine.disease, Dermatology, Pneumocystis jirovecii pneumonia, Primary immunodeficiency, Medicine, business, incontinentia pigmenti
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb80de9eff6fbe47a4731e9a698952c3Test
https://doaj.org/article/dc3a5ff08f5943cf9853e67df67a804cTest -
5
المؤلفون: Balasa Adriana, Mihai Larisia, Frecus Corina, Ungureanu Adina, Cuzic Viviana, Pantazi Alexandru Cosmin
المصدر: ARS Medica Tomitana, Vol 26, Iss 2, Pp 58-62 (2020)
مصطلحات موضوعية: prolonged fever, Ectodermal dysplasia, medicine.medical_specialty, integumentary system, business.industry, Prolonged fever, medicine.disease, infant, Dermatology, General Biochemistry, Genetics and Molecular Biology, anhidrotic ectodermal dysplasia, embryonic structures, Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37ca5c7b76e323013769bacc558086ebTest
https://doi.org/10.2478/arsm-2020-0012Test -
6
المؤلفون: Erin P. Carmany, Jaime L. Natoli, Grace M. Anbouba
المصدر: American Journal of Medical Genetics Part A. 182:831-841
مصطلحات موضوعية: Hypohidrosis, 0301 basic medicine, medicine.medical_specialty, Ectodermal Dysplasia 1, Anhidrotic, Absent hair, business.industry, 030105 genetics & heredity, Hypotrichosis, Prognosis, medicine.disease, Dermatology, stomatognathic diseases, 03 medical and health sciences, Absent sweating, Hypodontia, 030104 developmental biology, Genetics, Humans, Medicine, Hypohidrotic ectodermal dysplasia, business, Genetics (clinical), Systematic search
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dd133847afd8933cf8e91714d95ae8dTest
https://doi.org/10.1002/ajmg.a.61493Test -
7
المؤلفون: Reema AlNuaimi, Mohammad Mansoor
المصدر: Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-6 (2019)
Journal of Medical Case Reportsمصطلحات موضوعية: Male, Ectodermal dysplasia, Pediatric dentistry, Oligodontia, medicine.medical_treatment, Dentistry, lcsh:Medicine, Case Report, Prosthesis, Prosthodontics, Dental Prosthesis, 03 medical and health sciences, 0302 clinical medicine, Occlusion, medicine, Humans, Fixed prosthesis, Hypohidrotic ectodermal dysplasia, Denture Design, Anodontia, Ectodermal Dysplasia 1, Anhidrotic, Prosthetic rehabilitation, business.industry, lcsh:R, Mandible, 030206 dentistry, General Medicine, Growth and development, medicine.disease, Adaptation, Physiological, Children with special needs, Masticatory force, Treatment Outcome, Child, Preschool, 030220 oncology & carcinogenesis, Quality of Life, Denture, Partial, Removable, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3289ac4d06d4c0fbf72d872cba3636a5Test
http://link.springer.com/article/10.1186/s13256-019-2268-4Test -
8
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 -
9
المؤلفون: Hans Gjørup, J. Daugaard-Jensen, Liselotte Sonnesen, A. Jasemi
المصدر: Sonnesen, L, Jasemi, A, Gjørup, H & Daugaard-Jensen, J 2018, ' Upper cervical spine and craniofacial morphology in hypohidrotic ectodermal dysplasia ', European Archives of Paediatric Dentistry, vol. 19, no. 5, pp. 331-336 . https://doi.org/10.1007/s40368-018-0362-8Test
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Craniofacial abnormality, 03 medical and health sciences, 0302 clinical medicine, Occlusion, medicine, Humans, Dentistry (miscellaneous), Hypohidrotic ectodermal dysplasia, Craniofacial, Child, Orthodontics, Ectodermal Dysplasia 1, Anhidrotic, business.industry, 030206 dentistry, medicine.disease, Spinal column, 030104 developmental biology, medicine.anatomical_structure, Case-Control Studies, Face, Agenesis, Pediatrics, Perinatology and Child Health, Cervical Vertebrae, Female, Mandibular prognathia, business, Head, Cervical vertebrae
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::094595933f74392b29d5d79e97b5455cTest
https://doi.org/10.1007/s40368-018-0362-8Test -
10A novel c.916CA EDA gene pathogenic variant in a boy with X-linked hypohidrotic ectodermal dysplasia
المؤلفون: Isabella Borg, Nikolai Paul Pace, Dillon Mintoff, V. Mercieca, P. Bauer
المصدر: Clinical and experimental dermatologyReferences. 46(3)
مصطلحات موضوعية: Male, medicine.medical_specialty, Birth weight, Mutation, Missense, Intrauterine growth restriction, Dermatology, Anodontia, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Hypohidrotic ectodermal dysplasia, Family history, Fetus, Ectodermal Dysplasia 1, Anhidrotic, business.industry, Malta, Infant, Ectodysplasins, medicine.disease, Scalp hypotrichosis, 030220 oncology & carcinogenesis, Ectodysplasin A, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b192f3038c908e2f65214e3a21b1d87Test
https://pubmed.ncbi.nlm.nih.gov/33222196Test