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91
المؤلفون: Elena Navarro, Ophir D. Klein, Christine Bodemer, Lior Wolf, Sigrun Wohlfart, Dorothy K. Grange, Melanie Orin, Smail Hadj-Rabia, Kenneth M. Huttner, Holm Schneider, Neil Kirby
المصدر: American Journal of Medical Genetics Part A. 173:2408-2414
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Ectodermal dysplasia, medicine.medical_specialty, 03 medical and health sciences, Image Processing, Computer-Assisted, Genetics, medicine, Possible diagnosis, Humans, Hypohidrotic ectodermal dysplasia, Child, Genetics (clinical), Ectodermal Dysplasia 1, Anhidrotic, Ectodermal Dysplasia Syndromes, business.industry, Genetic disorder, Infant, Automated Facial Recognition, medicine.disease, Phenotype, Dermatology, 030104 developmental biology, Male patient, Child, Preschool, Face, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dae234e998388ece184e96d5358ca75Test
https://doi.org/10.1002/ajmg.a.38343Test -
92
المؤلفون: Ebtesam M. Abdalla, Adrianna Mostowska, Agnieszka Gaczkowska, Karin Dowidar, Ghada Mohamed Elhady, Paweł P. Jagodziński
المصدر: Archives of Oral Biology. 68:21-28
مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, Genotype, DNA Mutational Analysis, Gene Expression, Biology, 03 medical and health sciences, medicine, Humans, Edar Receptor, Coding region, Hypohidrotic ectodermal dysplasia, Child, General Dentistry, Gene, Anodontia, MSX1 Transcription Factor, Genetics, Ectodermal Dysplasia 1, Anhidrotic, Cell Biology, General Medicine, Ectodysplasins, medicine.disease, Pedigree, Wnt Proteins, Phenotype, 030104 developmental biology, Otorhinolaryngology, Mutation, Egypt, Ectodysplasin A, PAX9 Transcription Factor, PAX9
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c1d09f55904d7762779badc38ecb3e2Test
https://doi.org/10.1016/j.archoralbio.2016.03.015Test -
93
المؤلفون: Xue Feng, Ming Qi, Jun-Hui Sun, F. Huang, Chen Weng, Ping Yu, Tianying Wei
المصدر: Journal of the European Academy of Dermatology and Venereology. 32:e324-e326
مصطلحات موضوعية: Male, 0301 basic medicine, China, medicine.medical_specialty, Ectodermal Dysplasia 1, Anhidrotic, business.industry, Dermatology, Ectodysplasins, 030105 genetics & heredity, medicine.disease, Pedigree, 03 medical and health sciences, 030104 developmental biology, Infectious Diseases, Mutation, Mutation (genetic algorithm), medicine, Humans, Female, Ectodysplasin A, Hypohidrotic ectodermal dysplasia, Child, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a88a4da6794e948d341249b2cd0298cTest
https://doi.org/10.1111/jdv.14874Test -
94
المؤلفون: Daniele Viera, Cassol, Thiago Isidro, Viera, Ivete Pomarico Ribeiro, Souza, Luciana, Pomarico
المصدر: General dentistry. 67(4)
مصطلحات موضوعية: Ectodermal Dysplasia 1, Anhidrotic, Child, Preschool, Denture, Partial, Removable, Humans, Female, Esthetics, Dental, Anodontia, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::0d2801c8a2683b3ec18e258af05d471eTest
https://pubmed.ncbi.nlm.nih.gov/31355772Test -
95
المؤلفون: A L Chuhrova, A A Stepanova, O. A. Schagina, Mikhail Skoblov, M V Freire, Alexandra Filatova, Nina Demina, A. V. Polyakov, T. B. Milovidova
المصدر: Journal of the European Academy of Dermatology and Venereology. 33
مصطلحات موضوعية: Male, Genetics, Ectodermal Dysplasia 1, Anhidrotic, Splice site mutation, business.industry, RNA Splicing, Dermatology, medicine.disease, Pedigree, Russia, Molecular analysis, Infectious Diseases, Mutation, RNA splicing, Mutation (genetic algorithm), Humans, Medicine, Female, Hypohidrotic ectodermal dysplasia, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff3faeeae6fc715438ac19e37a560f0dTest
https://doi.org/10.1111/jdv.15798Test -
96
المؤلفون: Jia Nee Foo, Ghazanfar Ali, Musharraf Jelani, Chiea Chuen Khor
المساهمون: Lee Kong Chian School of Medicine (LKCMedicine), Genome Institute of Singapore, A*STAR
المصدر: The journal of gene medicineREFERENCES. 21(9)
مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Genetic counseling, Mutation, Missense, Genes, Recessive, Biology, 03 medical and health sciences, Consanguinity, 0302 clinical medicine, stomatognathic system, Gene Frequency, Drug Discovery, Exome Sequencing, Genetics, medicine, Missense mutation, Ectodysplasin A receptor, Humans, Medicine [Science], Hypohidrotic ectodermal dysplasia, Molecular Biology, Genetics (clinical), Alleles, EDARADD, Ectodermal Dysplasia 1, Anhidrotic, integumentary system, Edar Receptor, medicine.disease, Hypohidrotic Ectodermal Dysplasia, Pedigree, Minor allele frequency, 030104 developmental biology, Phenotype, 030220 oncology & carcinogenesis, Molecular Medicine, Ectodysplasin A, Female, Ectodysplasin A Receptor, Congenital disorder
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b95a7301c854736a2164d951c0e546cfTest
https://pubmed.ncbi.nlm.nih.gov/31310406Test -
97
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 -
98
المؤلفون: Isabel S. Rotenberg, Enio Moura, Cláudia Turra Pimpão
المصدر: Topics in companion animal medicine. 35
مصطلحات موضوعية: Male, medicine.medical_specialty, 040301 veterinary sciences, Oligodontia, 0403 veterinary science, Dogs, stomatognathic system, medicine, Animals, Humans, Hypohidrotic ectodermal dysplasia, Dog Diseases, Small Animals, Clinical phenotype, Ectodermal Dysplasia 1, Anhidrotic, business.industry, Tooth Abnormalities, 0402 animal and dairy science, Genetic disorder, Alopecia, 04 agricultural and veterinary sciences, medicine.disease, 040201 dairy & animal science, Dermatology, Clinical Practice, stomatognathic diseases, Hypodontia, Hypotrichosis, Female, business, Congenital Alopecia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e49bad9a6a0a643ff17243da0aa598ddTest
https://pubmed.ncbi.nlm.nih.gov/31122682Test -
99
المؤلفون: Evan, Cyrkin, Candice, Zemnick, Richard K, Yoon
المصدر: The New York state dental journal. 82(6)
مصطلحات موضوعية: Ectodermal Dysplasia 1, Anhidrotic, Dental Prosthesis Design, Tooth Abnormalities, Child, Preschool, Humans, Female, Dentures
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::fb389a7a1b206f918a8c75f626affbd4Test
https://pubmed.ncbi.nlm.nih.gov/30512258Test -
100
المؤلفون: Danae, Vasiliadis, Marion, Hewicker-Trautwein, Daniela, Klotz, Michael, Fehr, Stefka, Ruseva, Jennifer, Arndt, Julia, Metzger, Ottmar, Distl
المصدر: G3: Genes|Genomes|Genetics
مصطلحات موضوعية: Ectodermal Dysplasia 1, Anhidrotic, Whole Genome Sequencing, ectodysplasin-A, canine, Ectodysplasins, Investigations, Pedigree, Sweat Glands, ectodermal dysplasia, Dogs, X-linked inheritance, whole-genome sequencing, Animals, Humans, Dog Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::66634095602eca1a896b316c94427401Test
https://pubmed.ncbi.nlm.nih.gov/30397018Test