المؤلفون: Dorling, Leila, Carvalho, Sara, Allen, Jamie, Parsons, Michael T, Fortuno, Cristina, González-Neira, Anna, Heijl, Stephan M, Adank, Muriel A, Ahearn, Thomas U, Andrulis, Irene L, Auvinen, Päivi, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bremer, Michael, Briceno, Ignacio, Camp, Nicola J, Campbell, Archie, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, NBCS Collaborators, Collée, J Margriet, Czene, Kamila, Dennis, Joe, Dörk, Thilo, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Giles, Graham G, Glendon, Gord, Guénel, Pascal, Gündert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F, Hartman, Mikael, Hogervorst, Frans BL

مصطلحات موضوعية: Breast cancer, Genetic epidemiology, Missense variants, Risk prediction, Breast Neoplasms, Case-Control Studies, Female, Genetic Predisposition to Disease, Humans, Mutation, Missense

العلاقة: https://dx.doi.org/10.1101/2021.09.02.21262369Test

الإتاحة: https://doi.org/10.17863/cam.8584110.1101/2021.09.02.21262369Test
https://www.repository.cam.ac.uk/handle/1810/338428Test

المؤلفون: Mazereeuw-Hautier, J., Severino-Freire, M, Gaston, V, Teixer, H, Vincent, M., Aubert, H., Morice-Picard, F., Jonca, N

المساهمون: Service Dermatologie CHU Toulouse, Pôle Clinique des Voies respiratoires CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de génétique médicale - Unité de génétique clinique Nantes, Université de Nantes (UN)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), CHU Bordeaux

المصدر: ISSN: 0001-5555 ; Acta Dermato-Venereologica ; https://ut3-toulouseinp.hal.science/hal-03153659Test ; Acta Dermato-Venereologica, 2019, Acta Dermato Venereologica, 100 (4), pp.adv00047. ⟨10.2340/00015555-3359⟩.

مصطلحات موضوعية: SDR9C7 mutations, autosomal recessive congenital ichthyosis, ARCI, MESH: Adult, MESH: Biopsy, MESH: Oxidoreductases genetics, MESH: Phenotype, MESH: Female, MESH: Genes, MESH: Recessive, MESH: Humans, MESH: Ichthyosiform Erythroderma, MESH: Congenital genetics, MESH: Male, MESH: Mutation Missense, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases

العلاقة: hal-03153659; https://ut3-toulouseinp.hal.science/hal-03153659Test; https://ut3-toulouseinp.hal.science/hal-03153659/documentTest; https://ut3-toulouseinp.hal.science/hal-03153659/file/Mazereeuwhautierjuliette_2020.pdfTest

الإتاحة: https://doi.org/10.2340/00015555-3359Test
https://ut3-toulouseinp.hal.science/hal-03153659Test
https://ut3-toulouseinp.hal.science/hal-03153659/documentTest
https://ut3-toulouseinp.hal.science/hal-03153659/file/Mazereeuwhautierjuliette_2020.pdfTest

المؤلفون: Mazereeuw-Hautier, J., Severino-Freire, M, Gaston, V, Teixer, H, Vincent, M., Aubert, H., Morice-Picard, F., Jonca, N

المساهمون: Service Dermatologie CHU Toulouse, Pôle Clinique des Voies respiratoires CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de génétique médicale - Unité de génétique clinique Nantes, Université de Nantes (UN)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), CHU Bordeaux

المصدر: ISSN: 0001-5555 ; Acta Dermato-Venereologica ; https://ut3-toulouseinp.hal.science/hal-03153659Test ; Acta Dermato-Venereologica, 2019, Acta Dermato Venereologica, 100 (4), pp.adv00047. ⟨10.2340/00015555-3359⟩.

مصطلحات موضوعية: SDR9C7 mutations, autosomal recessive congenital ichthyosis, ARCI, MESH: Adult, MESH: Biopsy, MESH: Oxidoreductases genetics, MESH: Phenotype, MESH: Female, MESH: Genes, MESH: Recessive, MESH: Humans, MESH: Ichthyosiform Erythroderma, MESH: Congenital genetics, MESH: Male, MESH: Mutation Missense, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases

العلاقة: hal-03153659; https://ut3-toulouseinp.hal.science/hal-03153659Test; https://ut3-toulouseinp.hal.science/hal-03153659/documentTest; https://ut3-toulouseinp.hal.science/hal-03153659/file/Mazereeuwhautierjuliette_2020.pdfTest

الإتاحة: https://doi.org/10.2340/00015555-3359Test
https://ut3-toulouseinp.hal.science/hal-03153659Test
https://ut3-toulouseinp.hal.science/hal-03153659/documentTest
https://ut3-toulouseinp.hal.science/hal-03153659/file/Mazereeuwhautierjuliette_2020.pdfTest

المؤلفون: Mazereeuw-Hautier, J., Severino-Freire, M, Gaston, V, Teixer, H, Vincent, M., Aubert, H., Morice-Picard, F., Jonca, N

المساهمون: Service Dermatologie CHU Toulouse, Pôle Clinique des Voies respiratoires CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de génétique médicale - Unité de génétique clinique Nantes, Université de Nantes (UN)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), CHU Bordeaux

المصدر: ISSN: 0001-5555 ; Acta Dermato-Venereologica ; https://ut3-toulouseinp.hal.science/hal-03153659Test ; Acta Dermato-Venereologica, 2019, Acta Dermato Venereologica, 100 (4), pp.adv00047. ⟨10.2340/00015555-3359⟩.

مصطلحات موضوعية: SDR9C7 mutations, autosomal recessive congenital ichthyosis, ARCI, MESH: Adult, MESH: Biopsy, MESH: Oxidoreductases genetics, MESH: Phenotype, MESH: Female, MESH: Genes, MESH: Recessive, MESH: Humans, MESH: Ichthyosiform Erythroderma, MESH: Congenital genetics, MESH: Male, MESH: Mutation Missense, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases

العلاقة: hal-03153659; https://ut3-toulouseinp.hal.science/hal-03153659Test; https://ut3-toulouseinp.hal.science/hal-03153659/documentTest; https://ut3-toulouseinp.hal.science/hal-03153659/file/Mazereeuwhautierjuliette_2020.pdfTest

الإتاحة: https://doi.org/10.2340/00015555-3359Test
https://ut3-toulouseinp.hal.science/hal-03153659Test
https://ut3-toulouseinp.hal.science/hal-03153659/documentTest
https://ut3-toulouseinp.hal.science/hal-03153659/file/Mazereeuwhautierjuliette_2020.pdfTest

المؤلفون: Mazereeuw-Hautier, J., Severino-Freire, M, Gaston, V, Teixer, H, Vincent, M., Aubert, H., Morice-Picard, F., Jonca, N

المساهمون: Service de dermatologie (CHU de Toulouse), CHU Toulouse Toulouse, Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique médicale - Unité de génétique clinique Nantes, Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Bordeaux Bordeaux

المصدر: ISSN: 0001-5555 ; Acta Dermato-Venereologica ; https://hal-univ-tlse3.archives-ouvertes.fr/hal-03153659Test ; Acta Dermato-Venereologica, Society for Publication of Acta Dermato-Venereologica, 2019, Acta Dermato Venereologica, 100 (4), pp.adv00047. ⟨10.2340/00015555-3359⟩.

مصطلحات موضوعية: ARCI, autosomal recessive congenital ichthyosis, SDR9C7 mutations, MESH: Adult, MESH: Biopsy, MESH: Oxidoreductases genetics, MESH: Phenotype, MESH: Female, MESH: Genes, MESH: Recessive, MESH: Humans, MESH: Ichthyosiform Erythroderma, MESH: Congenital genetics, MESH: Male, MESH: Mutation Missense, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases

العلاقة: hal-03153659; https://hal-univ-tlse3.archives-ouvertes.fr/hal-03153659Test; https://hal-univ-tlse3.archives-ouvertes.fr/hal-03153659/documentTest; https://hal-univ-tlse3.archives-ouvertes.fr/hal-03153659/file/Mazereeuwhautierjuliette_2020.pdfTest

الإتاحة: https://doi.org/10.2340/00015555-3359Test
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03153659Test
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03153659/documentTest
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03153659/file/Mazereeuwhautierjuliette_2020.pdfTest

المؤلفون: Silk, Michael, Pires, Douglas EV, Rodrigues, Carlos HM, D'Souza, Elston N, Olshansky, Moshe, Thorne, Natalie, Ascher, David B

مصطلحات موضوعية: Genomics, Humans, Mutation, Missense, Neoplasms, Protein Structure, Tertiary, Software, Structural Homology, Protein

الإتاحة: https://doi.org/10.17863/cam.69533Test
https://www.repository.cam.ac.uk/handle/1810/322074Test

المؤلفون: Reiche, Janine, Schweiger, Brunhilde

مصطلحات موضوعية: Amino Acid Sequence, Humans, Molecular Sequence Data, Phylogeny, Sequence Alignment, Genotype, Germany/epidemiology, Cluster Analysis, Reverse Transcriptase Polymerase Chain Reaction/methods, Infant, Human/genetics, Respiratory Syncytial Virus Infections/epidemiology, Molecular Epidemiology, Child Preschool, Human/classification, Sequence Analysis DNA, Mutation Missense, Nasal Cavity/virology, Nasopharynx/virology, Pharynx/virology, Point Mutation, Polymorphism Genetic, RNA Viral/genetics, Respiratory Syncytial Virus Infections/virology, Respiratory Syncytial Virus, Respiratory Syncytial Virus Human/isolation & purification, 610 Medizin, ddc:610

وصف الملف: application/pdf

العلاقة: http://edoc.rki.de/oa/articles/revTKsi0LkBY/PDF/21i4CA5KvhkD2.pdfTest; http://edoc.rki.de/176904/825Test; urn:nbn:de:0257-10012706; http://dx.doi.org/10.25646/750Test

الإتاحة: https://doi.org/10.1128/JCM.02286-08Test
https://doi.org/10.25646/750Test
http://edoc.rki.de/oa/articles/revTKsi0LkBY/PDF/21i4CA5KvhkD2.pdfTest
http://edoc.rki.de/176904/825Test
https://nbn-resolving.org/urn:nbn:de:0257-10012706Test

المؤلفون: Finsterbusch, Tim, Wolbert, Anne, Deitemeier, Ingrid, Meyer, Kerstin, Mosquera, Maria Mar, Mankertz, Annette, Santibanez, Sabine

مصطلحات موضوعية: Amino Acid Sequence, Humans, Molecular Sequence Data, Genotype, Measles virus/genetics, Neutralization Tests, Sequence Analysis DNA, Mutation Missense, RNA Viral/genetics, Asia, Antibodies Viral/immunology, Measles virus/isolation & purification, Measles/virology, Measles virus/immunology, Epitopes/immunology, Hemagglutinins Viral/genetics, Hemagglutinins Viral/immunology, Measles Vaccine/immunology, Mutant Proteins/immunology, 610 Medizin, ddc:610

وصف الملف: application/pdf

العلاقة: http://edoc.rki.de/oa/articles/reSjEv3TeGwj/PDF/24ecGkogWhh3A.pdfTest; http://edoc.rki.de/176904/1346Test; urn:nbn:de:0257-10027784; http://dx.doi.org/10.25646/1271Test

الإتاحة: https://doi.org/10.1099/vir.0.013524-0Test
https://doi.org/10.25646/1271Test
http://edoc.rki.de/oa/articles/reSjEv3TeGwj/PDF/24ecGkogWhh3A.pdfTest
http://edoc.rki.de/176904/1346Test
https://nbn-resolving.org/urn:nbn:de:0257-10027784Test

المؤلفون: Vu, Dung, Di Sanza, Corinne, Neerman Arbez, Marguerite

المصدر: ISSN: 1592-8721 ; Haematologica, vol. 93, no. 2 (2008) p. 224-231.

مصطلحات موضوعية: info:eu-repo/classification/ddc/576.5, Afibrinogenemia/genetics/metabolism, Animals, COS Cells, Cercopithecus aethiops, Cold Temperature, Factor XIII/metabolism, Fibrinogen/secretion, Golgi Apparatus/genetics/secretion, Humans, Molecular Chaperones/pharmacology, Mutation Missense, Plasmin/metabolism, Recombinant Proteins/genetics/secretion, Transfection/methods

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/18223281; https://archive-ouverte.unige.ch/unige:847Test; unige:847

الإتاحة: https://doi.org/10.3324/haematol.11868Test
https://archive-ouverte.unige.ch/unige:847Test

المؤلفون: Nicita F, Spalice A, BOTTILLO, IRENE, Pinna V, Ursitti F, Ruggieri M.

المساهمون: Nicita, F, Spalice, A, Bottillo, Irene, Pinna, V, Ursitti, F, Ruggieri, M.

مصطلحات موضوعية: Familial spinal neurofibromatosi, neurocutaneous syndrome, neurofibromatosi, NF1, phakomatosi, spinal cord, base sequence, DNA mutational analysi, family, female, human, magnetic resonance imaging, male, middle aged, neck, neurofibromatose, neurofibromatosis 1, pedigree, phenotype, young adult, genes, mutation missense, neurology (clinical), neurology, physiology (medical)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23954459; info:eu-repo/semantics/altIdentifier/wos/WOS:000332192700030; volume:21; issue:2; firstpage:328; lastpage:330; numberofpages:3; journal:JOURNAL OF CLINICAL NEUROSCIENCE; http://hdl.handle.net/11573/738463Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84892594247

الإتاحة: https://doi.org/10.1016/j.jocn.2013.01.026Test
http://hdl.handle.net/11573/738463Test