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

المؤلفون: Del-Pozo, J., Headon, D.J., Glover, J.D., Azar, A., Schuepbach-Mallepell, S., Bhutta, M.F., Riddell, J., Maxwell, S., Milne, E., Schneider, P., Cheeseman, M.

المصدر: Disease models & mechanisms, vol. 15, no. 3, pp. dmm049034

مصطلحات موضوعية: Animals, Ear Canal, Ectodermal Dysplasia 1, Anhidrotic, Ectodysplasins, Female, Lactation, Mice, Otitis Externa, EDAR, EDARADD, FBXO11, Hypohidrotic ectodermal dysplasia, MECOM, Sparse and wavy hair rat, Tabby mouse

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35107126; info:eu-repo/semantics/altIdentifier/eissn/1754-8411; info:eu-repo/grantAgreement/SNF/Projects/176256///; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_A41FC1BA53F19; https://serval.unil.ch/notice/serval:BIB_A41FC1BA53F1Test; urn:issn:1754-8403; https://serval.unil.ch/resource/serval:BIB_A41FC1BA53F1.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_A41FC1BA53F19Test

الإتاحة: https://doi.org/10.1242/dmm.049034Test
https://serval.unil.ch/notice/serval:BIB_A41FC1BA53F1Test
https://serval.unil.ch/resource/serval:BIB_A41FC1BA53F1.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_A41FC1BA53F19Test

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: 7155

مصطلحات 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

المؤلفون: Del-Pozo, J., MacIntyre, N., Azar, A., Headon, D., Schneider, P., Cheeseman, M.

المصدر: Disease models & mechanisms, vol. 12, no. 4

مصطلحات موضوعية: Animals, Antibodies/pharmacology, Disease Models, Animal, Ear, Middle/metabolism, Middle/pathology, Ectodermal Dysplasia 1, Anhidrotic/metabolism, Anhidrotic/pathology, Ectodysplasins/metabolism, Female, Hyalin/metabolism, Male, Mice, Nasopharyngitis/complications, Nasopharyngitis/pathology, Nasopharynx/drug effects, Nasopharynx/pathology, Nose/pathology, Otitis Media/complications, Otitis Media/pathology, Phenotype, Rats, Receptors, Ectodysplasin/agonists, Ectodysplasin/metabolism, Rhinitis/complications, Signal Transduction, Auditory-tube submucosal gland

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31028034; info:eu-repo/semantics/altIdentifier/eissn/1754-8411; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_4103E7371D490; https://serval.unil.ch/notice/serval:BIB_4103E7371D49Test; urn:issn:1754-8403; https://serval.unil.ch/resource/serval:BIB_4103E7371D49.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4103E7371D490Test

الإتاحة: https://doi.org/10.1242/dmm.037804Test
https://serval.unil.ch/notice/serval:BIB_4103E7371D49Test
https://serval.unil.ch/resource/serval:BIB_4103E7371D49.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4103E7371D490Test

المؤلفون: B. Leo, H. Schneider, J. Hammersen

المصدر: Journal of the European Academy of Dermatology and Venereology. 36:1863-1870

مصطلحات موضوعية: Adult, Ectodermal Dysplasia 1, Anhidrotic, Reproduction, Decision Making, Limb Deformities, Congenital, Dermatology, Ectodysplasins, Middle Aged, Young Adult, Cross-Sectional Studies, Infectious Diseases, Pregnancy, Humans, Female, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c3c2231ff09bfd9cc37f1b707bf16dcTest
https://doi.org/10.1111/jdv.18267Test

المؤلفون: Schneider, H., Faschingbauer, F., Schuepbach-Mallepell, S., Körber, I., Wohlfart, S., Dick, A., Wahlbuhl, M., Kowalczyk-Quintas, C., Vigolo, M., Kirby, N., Tannert, C., Rompel, O., Rascher, W., Beckmann, M.W., Schneider, P.

المصدر: The New England Journal of Medicine, vol. 378, no. 17, pp. 1604-1610

مصطلحات موضوعية: Adult, Amniotic Fluid, Antigens, CD/therapeutic use, Ectodermal Dysplasia 1, Anhidrotic/diagnostic imaging, Anhidrotic/genetics, Anhidrotic/therapy, Ectodysplasins/deficiency, Ectodysplasins/genetics, Ectodysplasins/therapeutic use, Female, Fetal Therapies/methods, Genetic Therapy/methods, Humans, Injections, Male, Mutation, Pregnancy, Prenatal Diagnosis, Radiography, Receptors, Fc/therapeutic use, Recombinant Proteins/therapeutic use, Sweat Glands/abnormalities, Sweat Glands/diagnostic imaging, Tooth Germ/diagnostic imaging

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29694819; info:eu-repo/semantics/altIdentifier/eissn/1533-4406; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_7D5E9C7A775B4; https://serval.unil.ch/notice/serval:BIB_7D5E9C7A775BTest; urn:issn:0028-4793; https://serval.unil.ch/resource/serval:BIB_7D5E9C7A775B.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7D5E9C7A775B4Test

الإتاحة: https://doi.org/10.1056/NEJMoa1714322Test
https://serval.unil.ch/notice/serval:BIB_7D5E9C7A775BTest
https://serval.unil.ch/resource/serval:BIB_7D5E9C7A775B.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7D5E9C7A775B4Test

المؤلفون: Schneider, Holm, Hadj-Rabia, Smail, Faschingbauer, Florian, Bodemer, Christine, Grange, Dorothy K, Norton, Mary E, Cavalli, Riccardo, Tadini, Gianluca, Stepan, Holger, Clarke, Angus, Guillén-Navarro, Encarna, Maier-Wohlfart, Sigrun, Bouroubi, Athmane, Porte, Florence

المصدر: 2020-Current year OA Pubs

مصطلحات موضوعية: Female, Pregnancy, Male, Humans, Ectodermal Dysplasia 1, Anhidrotic, Prospective Studies, Ectodermal Dysplasia, Ectodysplasins, Skin, Clinical Trials, Phase II as Topic, Medicine and Health Sciences

وصف الملف: application/pdf

العلاقة: https://digitalcommons.wustl.edu/oa_4/1154Test; https://digitalcommons.wustl.edu/context/oa_4/article/2156/viewcontent/Protocol_for_the_Phase_2_EDELIFE_Trial_Investigating_the_Efficacy_and_Safety_of_Intra_Amniotic_ER004_Administration_to_Male_Subjects_with_X_Linked_Hypohidrotic_Ectodermal_Dysplasia.pdfTest

الإتاحة: https://doi.org/10.3390/genes14010153Test
https://digitalcommons.wustl.edu/oa_4/1154Test
https://digitalcommons.wustl.edu/context/oa_4/article/2156/viewcontent/Protocol_for_the_Phase_2_EDELIFE_Trial_Investigating_the_Efficacy_and_Safety_of_Intra_Amniotic_ER004_Administration_to_Male_Subjects_with_X_Linked_Hypohidrotic_Ectodermal_Dysplasia.pdfTest

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 Letters

مصطلحات 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

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: Jorge del-Pozo, Denis J. Headon, James D. Glover, Ali Azar, Sonia Schuepbach-Mallepell, Mahmood F. Bhutta, Jon Riddell, Scott Maxwell, Elspeth Milne, Pascal Schneider, Michael Cheeseman

المصدر: Del-Pozo, J, Headon, D, Glover, J, Anvari Azar, A, Schuepbach-Mallepell, S, Bhutta, M F, Maxwell, S, Milne, E, Schneider, P & Cheeseman, M 2022, ' The EDA deficient mouse has Zymbal’s gland hypoplasia and acute otitis externa ', Disease Models and Mechanisms, vol. 15, no. 3, (2022) 15 (3) dmm 049034 . https://doi.org/10.1242/dmm.049034Test
Disease models & mechanisms, vol. 15, no. 3, pp. dmm049034

مصطلحات موضوعية: Ectodermal Dysplasia 1, Anhidrotic, integumentary system, Neuroscience (miscellaneous), Medicine (miscellaneous), FBXO11, EDARADD, MECOM, EDAR, Ectodysplasins, Otitis Externa, General Biochemistry, Genetics and Molecular Biology, Mice, stomatognathic system, Immunology and Microbiology (miscellaneous), Animals, Ear Canal, Female, Lactation, Hypohidrotic ectodermal dysplasia, Sparse and wavy hair rat, Tabby mouse, otorhinolaryngologic diseases, sense organs

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e8584a144a449668e057f0f04028e35Test
https://pubmed.ncbi.nlm.nih.gov/35107126Test