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1دورية أكاديمية
المؤلفون: Morhart, Patrick, Faschingbauer, Florian, Grange, Dorothy, Clarke, Angus, Bodemer, Christine, Maitz, Silvia, Huttner, Kenneth, Kirby, Neil, Durand, Caroline, Schneider, Holm, Körber, Iris, Klein, Ophir
المصدر: British Journal of Clinical Pharmacology. 86(10)
مصطلحات موضوعية: drug safety, ectodermal dysplasia, ectodysplasin A, immunogenicity, prenatal therapy, protein replacement, Adult, Animals, Ectodysplasins, Female, Humans, Immunoglobulin Fc Fragments, Infant, Infant, Newborn, Male, Pregnancy, Recombinant Fusion Proteins, Research Subjects
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9m31z4skTest
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2دورية أكاديمية
المؤلفون: Körber, Iris, Klein, Ophir D, Morhart, Patrick, Faschingbauer, Florian, Grange, Dorothy K, Clarke, Angus, Bodemer, Christine, Maitz, Silvia, Huttner, Kenneth, Kirby, Neil, Durand, Caroline, Schneider, Holm
المصدر: British Journal of Clinical Pharmacology. 86(10)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Dentistry, Clinical Research, Pediatric Research Initiative, Perinatal Period - Conditions Originating in Perinatal Period, Infant Mortality, Pediatric, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Good Health and Well Being, Adult, Animals, Ectodysplasins, Female, Humans, Immunoglobulin Fc Fragments, Infant, Infant, Newborn, Male, Pregnancy, Recombinant Fusion Proteins, Research Subjects, drug safety, ectodermal dysplasia, ectodysplasin A, immunogenicity, prenatal therapy, protein replacement, Pharmacology and Pharmaceutical Sciences, Pharmacology & Pharmacy, Pharmacology and pharmaceutical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/08m7k377Test
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3دورية أكاديمية
المؤلفون: Schneider, H., Schweikl, C., Faschingbauer, F., Hadj-Rabia, S., Schneider, P.
المصدر: International journal of molecular sciences, vol. 24, no. 8, pp. 7155
مصطلحات موضوعية: Child, Pregnancy, Female, Infant, Humans, Male, Preschool, Ectodermal Dysplasia 1, Anhidrotic/genetics, Anhidrotic/therapy, Ectodysplasins/genetics, Ectodermal Dysplasia/genetics, Sweating, Hair, Recombinant Proteins, AlphaLisa, ectodermal dysplasia, ectodysplasin A, prenatal therapy, protein replacement, sweat glands, tooth development
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37108325; info:eu-repo/semantics/altIdentifier/eissn/1422-0067; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_55995EB323AC9; https://serval.unil.ch/notice/serval:BIB_55995EB323ACTest; urn:issn:1422-0067; https://serval.unil.ch/resource/serval:BIB_55995EB323AC.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_55995EB323AC9Test
الإتاحة: https://doi.org/10.3390/ijms24087155Test
https://serval.unil.ch/notice/serval:BIB_55995EB323ACTest
https://serval.unil.ch/resource/serval:BIB_55995EB323AC.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_55995EB323AC9Test -
4دورية أكاديمية
المؤلفون: Jones, Kyle B, Goodwin, Alice F, Landan, Maya, Seidel, Kerstin, Tran, Dong‐Kha, Hogue, Jacob, Chavez, Miquella, Fete, Mary, Yu, Wenli, Hussein, Tarek, Johnson, Ramsey, Huttner, Kenneth, Jheon, Andrew H, Klein, Ophir D
المصدر: American Journal of Medical Genetics Part A. 161(7)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Dentistry, Congenital Structural Anomalies, Genetics, Pediatric, Adolescent, Adult, Case-Control Studies, Child, Dermatology, Ectodermal Dysplasia 1, Anhidrotic, Ectodysplasins, Hair, Humans, Iontophoresis, Male, Microscopy, Confocal, Phenotype, Pilocarpine, Reproducibility of Results, Surveys and Questionnaires, Sweat Glands, Young Adult, X-linked hypohidrotic ectodermal dysplasia, ectodysplasin, hair, sweat gland, terminal hair, confocal imaging, pilocarpine iontophoresis, phototrichogram, Clinical Sciences, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/66q517jdTest
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المؤلفون: Holm Schneider, Christine Schweikl, Florian Faschingbauer, Smail Hadj-Rabia, Pascal Schneider
المصدر: International journal of molecular sciences, vol. 24, no. 8, pp. 7155
International Journal of Molecular Sciences; Volume 24; Issue 8; Pages: 7155مصطلحات موضوعية: Inorganic Chemistry, Organic Chemistry, ectodermal dysplasia, ectodysplasin A, AlphaLisa, protein replacement, sweat glands, tooth development, prenatal therapy, General Medicine, ddc:610, Physical and Theoretical Chemistry, Molecular Biology, Child, Pregnancy, Female, Infant, Humans, Male, Child, Preschool, Ectodermal Dysplasia 1, Anhidrotic/genetics, Ectodermal Dysplasia 1, Anhidrotic/therapy, Ectodysplasins/genetics, Ectodermal Dysplasia/genetics, Sweating, Hair, Recombinant Proteins, Spectroscopy, Catalysis, Computer Science Applications
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6935ca73489ed826b8ed8cf19bab4c7Test
https://opus4.kobv.de/opus4-fau/files/22840/ijms-24-07155-v2.pdfTest -
6دورية أكاديمية
المؤلفون: Vasiliadis, Danae, Hewicker-Trautwein, Marion, Klotz, Daniela, Fehr, Michael, Ruseva, Stefka, Arndt, Jennifer, Metzger, Julia, Distl, Ottmar
مصطلحات موضوعية: article, ddc:630, Verzeichnis wissenschaftlicher Veröffentlichungen, Hochschulbibliographie allgemein, Sweat Glands, Animals, Dogs, Humans, Dog Diseases, Pedigree, Ectodysplasins, Ectodermal Dysplasia 1, Anhidrotic, Whole Genome Sequencing, Canine, Ectodermal Dysplasia, Whole-genome Sequencing, X-linked Inheritance, Ectodysplasin-a
الوقت: 2019
العلاقة: G3 -- G3 (Bethesda) -- http://www.g3journal.orgTest/ -- https://www.ncbi.nlm.nih.gov/pmc/journals/1684Test/ -- http://www.bibliothek.uni-regensburg.de/ezeit/?2629978Test -- 2629978-1 -- 2160-1836; https://doi.org/10.1534/g3.118.200814Test; https://elib.tiho-hannover.de/receive/tiho_mods_00000560Test; https://elib.tiho-hannover.de/servlets/MCRFileNodeServlet/tiho_derivate_00000232/95.fullTest(1).pdf; http://europepmc.org/articles/PMC6325906Test; https://www.g3journal.org/content/9/1/95Test
الإتاحة: https://doi.org/10.1534/g3.118.200814Test
https://elib.tiho-hannover.de/receive/tiho_mods_00000560Test
https://elib.tiho-hannover.de/servlets/MCRFileNodeServlet/tiho_derivate_00000232/95.fullTest(1).pdf
http://europepmc.org/articles/PMC6325906Test
https://www.g3journal.org/content/9/1/95Test -
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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 -
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المؤلفون: Tao Cai, Miao Yu, Hong Qu, Liutao Zhang, Jinglei Zheng, Yang Liu, Dong Han, Yongsheng Zhou, Haochen Liu, Hailan Feng, Sing-Wai Wong, Zhuangzhuang Fan
المصدر: Human Mutation. 41:1957-1966
مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Genotype, DNA Mutational Analysis, Oligodontia, Biology, Young Adult, 03 medical and health sciences, stomatognathic system, Exome Sequencing, Genetics, medicine, Humans, Ectodysplasin A receptor, Hypohidrotic ectodermal dysplasia, Child, Genetics (clinical), Anodontia, 030304 developmental biology, 0303 health sciences, EDARADD, integumentary system, Edar Receptor, 030305 genetics & heredity, Genetic disorder, medicine.disease, Child, Preschool, Mutation, Female, Ectodysplasin A, Haploinsufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f2114ac973dad1f2e501100658ce12Test
https://doi.org/10.1002/humu.24104Test -
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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 -
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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