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

المؤلفون: Maha Rashed Abouzaid, Nehal F. Hassib, Hoda Abdalla Ahmed, Mohamed Ahmed Abdel‐Kader, Mostafa I. Mostafa, Mennat I Mehrez, Ghada El-Kamah, Suher Zada, Inas S. M. Sayed, Khalda Amr, Yasmine H. Mohsen, Eman Rabie

المصدر: Genes
Volume 12
Issue 9
Genes, Vol 12, Iss 1389, p 1389 (2021)

مصطلحات موضوعية: Adult, Male, Ectodermal dysplasia, Heterozygote, EDARADD, QH426-470, Gene mutation, Biology, hypohidrotic ectodermal eysplasia, Edar-Associated Death Domain Protein, Article, Genotype-phenotype distinction, Ectodermal Dysplasia, Genetics, medicine, Humans, oligodontia, Child, Genetics (clinical), Exome sequencing, Genetic heterogeneity, Edar Receptor, EDAR, WNT10A, Infant, ectodermal eysplasia, Ectodysplasins, Middle Aged, medicine.disease, Wnt Proteins, EDA, Child, Preschool, Mutation, ectodysplasin A, hypodontia, Hypotrichosis, Ectodysplasin A, Egypt, Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5ba72ef3a5b4aa11737c3a1daf3bd49Test

المؤلفون: Ahtiainen, Laura, Uski, Isa, Thesleff, Irma, Mikkola, Marja L.

المساهمون: Institute of Biotechnology, Marja Mikkola / Principal Investigator, Visualizing Mechanisms of Development and Disease

مصطلحات موضوعية: ECTODERMAL APPENDAGE MORPHOGENESIS, HAIR FOLLICLE DEVELOPMENT, NF-KAPPA-B, MAMMALIAN TOOTH, ENAMEL KNOT, INCISOR DEVELOPMENT, DENTAL MESENCHYME, SHH EXPRESSION, TABBY MOUSE, ECTODYSPLASIN, 1182 Biochemistry, cell and molecular biology

وصف الملف: application/pdf

العلاقة: This work was financially supported by the Academy of Finland, the Jane and Aatos Erkko Foundation, the Sigrid Juselius Foundation, and Biocentrum Helsinki.; Ahtiainen , L , Uski , I , Thesleff , I & Mikkola , M L 2016 , ' Early epithelial signaling center governs tooth budding morphogenesis ' , Journal of Cell Biology , vol. 214 , no. 6 , pp. 753-767 . https://doi.org/10.1083/jcb.201512074Test; 84991250580; 8151cfd5-6c54-42a6-93aa-22031af03848; http://hdl.handle.net/10138/174149Test; 000383307200013

الإتاحة: http://hdl.handle.net/10138/174149Test

المؤلفون: Siska, Veronika, Jones, Eppie Ruth, Jeon, Sungwon, Bhak, Youngjune, Kim, Hak-Min, Cho, Yun Sung, Kim, Hyunho, Lee, Kyusang, Veselovskaya, Elizaveta, Balueva, Tatiana, Gallego-Llorente, Marcos, Hofreiter, Michael, Bradley, Daniel G, Eriksson, Anders, Pinhasi, Ron, Bhak, Jong, Manica, Andrea

مصطلحات موضوعية: East Asia, Russian Far East, ancient genetics, human population genetics, neolithic, Archaeology, DNA, Mitochondrial, Asia, Eastern, Genome, Human, Genotype, Guanine Nucleotide Exchange Factors, Humans, Phenotype, Polymorphism, Single Nucleotide, Principal Component Analysis, Receptors, Ectodysplasin, Ubiquitin-Protein Ligases

وصف الملف: Electronic-eCollection; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/263070Test

الإتاحة: https://doi.org/10.17863/CAM.8372Test
https://www.repository.cam.ac.uk/handle/1810/263070Test

المؤلفون: Gökdere, S., Schneider, H., Hehr, U., Willen, L., Schneider, P., Maier-Wohlfart, S.

المصدر: Frontiers in genetics, vol. 13, pp. 934395

مصطلحات موضوعية: X-linked hypohidrotic ectodermal dysplasia, ectodysplasin A, functional studies, genotype-phenotype correlation, in silico analysis, serum EDA concentration, variants of uncertain significance

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35923710; info:eu-repo/semantics/altIdentifier/pissn/1664-8021; https://serval.unil.ch/notice/serval:BIB_30C88A426776Test; urn:issn:1664-8021

الإتاحة: https://doi.org/10.3389/fgene.2022.934395Test
https://serval.unil.ch/notice/serval:BIB_30C88A426776Test

المؤلفون: Callea, Michele, Bignotti, Stefano, Semeraro, Francesco, Cammarata-Scalisi, Francisco, El-Feghaly, Jinia, Morabito, Antonino, Romano, Vito, Willoughby, Colin E

المساهمون: Callea, Michele, Bignotti, Stefano, Semeraro, Francesco, Cammarata-Scalisi, Francisco, El-Feghaly, Jinia, Morabito, Antonino, Romano, Vito, Willoughby, Colin E

مصطلحات موضوعية: dry eye, ectodermal dysplasia, ectodysplasin-A, hypohidrotic ectodermal dysplasia, meibomian gland, ocular surface disease

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36138666; info:eu-repo/semantics/altIdentifier/wos/WOS:000856293400001; volume:9; issue:9; firstpage:1357; numberofpages:10; journal:CHILDREN; https://hdl.handle.net/11379/571287Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85138558821

الإتاحة: https://doi.org/10.3390/children9091357Test
https://hdl.handle.net/11379/571287Test

المؤلفون: Ayano, Ogata, Masahiro, Kondo, Masaaki, Yoshikawa, Masaharu, Okano, Takamichi, Tsutsumi, Hirofumi, Aboshi

المصدر: Forensic Science International. 340:111445

مصطلحات موضوعية: Forensic Genetics, Aging, Receptors, Ectodysplasin, Fatty Acids, Humans, CpG Islands, DNA Methylation, Polymerase Chain Reaction, Law, Biomarkers, Pathology and Forensic Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a8e8695b14f2901585eadd038564ad9Test
https://doi.org/10.1016/j.forsciint.2022.111445Test

المؤلفون: Bin Ma, Qing-Hua Zhang, Sheng-Ju Hao, Tian-Gang Li, Chong-Li Guan, Hong-Xia Tie

المصدر: Journal of Clinical Ultrasound. 49:838-840

مصطلحات موضوعية: medicine.medical_specialty, Unusual case, business.industry, Genetic disorder, Prenatal diagnosis, 030204 cardiovascular system & hematology, medicine.disease, Umbilical cord, Dermatology, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Dysplasia, medicine, Radiology, Nuclear Medicine and imaging, Ectodysplasin A, Hypohidrotic ectodermal dysplasia, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6c6ed723d5625488f8b03da95454914aTest
https://doi.org/10.1002/jcu.23020Test

المؤلفون: William Murray Thomson, Azza H. Al‐Ani, Tony R. Merriman, Ruth Topless, Mauro Farella, Joseph S Antoun

المساهمون: Al-Ani, A. H., Antoun, J. S., Thomson, W. M., Topless, R., Merriman, T. R., Farella, M.

المصدر: Orthodontics & Craniofacial Research. 24:155-163

مصطلحات موضوعية: single nucleotide, medicine.medical_specialty, Candidate gene, Adolescent, Orthodontics, polymorphism, 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), Internal medicine, medicine, AXIN2, Humans, 030212 general & internal medicine, Odontogenesi, Anodontia, business.industry, Case-control study, DNA, 030206 dentistry, Odds ratio, Ectodysplasins, medicine.disease, stomatognathic diseases, Hypodontia, Otorhinolaryngology, Case-Control Studies, hypodontia, Odontogenesis, Female, Surgery, Ectodysplasin A, genetic, Oral Surgery, Case-Control Studie, business, PAX9, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aa4295eb7a482e9fb1acfcd6eee945cTest
https://doi.org/10.1111/ocr.12419Test

المؤلفون: Telma G Laurentino, Nicolas Boileau, Fabrizia Ronco, Daniel Berner

المصدر: G3 (Bethesda, Md.). 12(6)

مصطلحات موضوعية: Genetics, Population, Gene Frequency, Receptors, Ectodysplasin, Genetics, Animals, Ectodysplasins, Molecular Biology, Genetics (clinical), Smegmamorpha

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50ded792de2f0240a808270904cce935Test
https://pubmed.ncbi.nlm.nih.gov/35377433Test