-
1
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 -
2
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 -
3
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 -
4
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 -
5
المؤلفون: Yiqun Wu, Cai-Ling Jiang, Yu Kang, Wei Huang, Yihan Shen, Feng Wang
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)مصطلحات موضوعية: Prenatal diagnosis, QH426-470, Biology, Gene mutation, hypohidrotic ectodermal dysplasia, medicine.disease_cause, whole exome sequencing, symbols.namesake, Pregnancy, Genetics, medicine, Humans, Missense mutation, Hypohidrotic ectodermal dysplasia, Molecular Biology, Genetics (clinical), Exome sequencing, Sanger sequencing, Mutation, Ectodermal Dysplasia 1, Anhidrotic, prenatal diagnosis, Original Articles, Ectodysplasins, medicine.disease, Molecular biology, Pedigree, ectodysplasin A, symbols, Female, Original Article, Ectodysplasin A, novel mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5cc62a35f670c66240c23f674c3b7f9Test
https://doi.org/10.1002/mgg3.1824Test -
6
المؤلفون: Xu Wang, Lingqiang Meng, Wenjing Chen, Qingqing Du, Zhiyu Zhang, Shuo Yuan, Dongru Yang, Jiabao Ren, Wenjing Shen, Jiuping Bai, Guozhong Zhang, Shushen Zheng, Hong Qu
المصدر: Medicine
مصطلحات موضوعية: Male, Ectodermal dysplasia, China, Mutant, Mutation, Missense, Observational Study, medicine.disease_cause, hypohidrotic ectodermal dysplasia, Polymerase Chain Reaction, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, tooth abnormalities, Missense mutation, Humans, Genetic Predisposition to Disease, 030212 general & internal medicine, Hypohidrotic ectodermal dysplasia, Luciferases, Gene, Sanger sequencing, Mutation, Ectodermal Dysplasia 1, Anhidrotic, business.industry, missense mutation, General Medicine, Ectodysplasins, medicine.disease, Molecular biology, Pedigree, genomic DNA, 030220 oncology & carcinogenesis, Child, Preschool, ectodysplasin A, symbols, Female, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b42d9b4f87a35a6b0920a5a805b0ae7Test
http://europepmc.org/articles/PMC7220389Test -
7
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 -
8
المؤلفون: Jiaxuan Lu, Lijie Zhou, Wei Zhao, Ling Zhu, Binghui Zeng, Huanzi Lu, Dongsheng Yu, Xue Xiao
المصدر: Oral Diseases. 21:994-1000
مصطلحات موضوعية: Male, Genotype, DNA Mutational Analysis, Mutation, Missense, Biology, Bioinformatics, Genotype phenotype, Correlation, medicine, Humans, Missense mutation, Hypohidrotic ectodermal dysplasia, General Dentistry, Anodontia, Permanent teeth, Ectodermal Dysplasia 1, Anhidrotic, Ectodysplasins, medicine.disease, Pedigree, stomatognathic diseases, Hypodontia, Phenotype, Otorhinolaryngology, Female, Ectodysplasin A
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::262e709e87ca98c76f2db458bbebaf76Test
https://doi.org/10.1111/odi.12376Test -
9
المؤلفون: Stephan Söder, Holm Schneider, Sigrun Wohlfart, Asma Smahi
المصدر: American Journal of Medical Genetics Part A. 170:249-253
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Mutation, Missense, Ectoderm, Biology, Edar-Associated Death Domain Protein, Breast Diseases, 03 medical and health sciences, Genetics, medicine, Humans, Edar Receptor, Missense mutation, Ovarian Teratoma, Hypohidrotic ectodermal dysplasia, Gene, Genetics (clinical), Ovarian Neoplasms, Ectodermal Dysplasia 1, Anhidrotic, EDARADD, NF-kappa B, Teratoma, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Female, Hair, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b44a6193de4fed2d5982785e6ed3d5Test
https://doi.org/10.1002/ajmg.a.37412Test -
10
المؤلفون: Man Qin, Junxia Zhu, Guannan Liu, Lisha Sun, Xin Wang
المصدر: Archives of Oral Biology. 107:104507
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Mutant, Mutation, Missense, Biology, 03 medical and health sciences, Exon, 0302 clinical medicine, Asian People, Molecular genetics, medicine, Humans, Missense mutation, Hypohidrotic ectodermal dysplasia, General Dentistry, X chromosome, Genetics, Ectodermal Dysplasia 1, Anhidrotic, 030206 dentistry, Cell Biology, General Medicine, Ectodysplasins, medicine.disease, Pedigree, HEK293 Cells, 030104 developmental biology, Otorhinolaryngology, Mutation (genetic algorithm), Ectodysplasin A
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f49dfc1f3fae4546b865554bfe0d8c34Test
https://doi.org/10.1016/j.archoralbio.2019.104507Test