المؤلفون: Hotz, Alrun, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Süßmuth, Kira, Komlosi, Katalin, Bouadjar, Bakar, Tantcheva-Poór, Iliana, Hellström Pigg, Maritta, Betz, Regina C, Giehl, Kathrin, Schedel, Fiona, Weibel, Lisa, Schulz, Solveig, Stölzl, Dora V, Tadini, Gianluca, Demiral, Emine, Berggard, Karin, Zimmer, Andreas D, Alter, Svenja, Fischer, Judith

المصدر: Hotz, Alrun; Kopp, Julia; Bourrat, Emmanuelle; Oji, Vinzenz; Süßmuth, Kira; Komlosi, Katalin; Bouadjar, Bakar; Tantcheva-Poór, Iliana; Hellström Pigg, Maritta; Betz, Regina C; Giehl, Kathrin; Schedel, Fiona; Weibel, Lisa; Schulz, Solveig; Stölzl, Dora V; Tadini, Gianluca; Demiral, Emine; Berggard, Karin; Zimmer, Andreas D; Alter, Svenja; Fischer, Judith (2023). Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. Genes, 14(3):717.

مصطلحات موضوعية: Clinic for Surgery, 610 Medicine & health, ABCA12, ARCI, congenital ichthyosiform erythroderma, harlequin ichthyosis, lamellar ichthyosis

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/256526/1/ZORA_256526.pdfTest; info:pmid/36980989; urn:issn:2073-4425

الإتاحة: https://doi.org/10.5167/uzh-25652610.3390/genes14030717Test
https://www.zora.uzh.ch/id/eprint/256526Test/
https://www.zora.uzh.ch/id/eprint/256526/1/ZORA_256526.pdfTest

المؤلفون: Hotz, Alrun, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Komlosi, Katalin, Giehl, Kathrin, Bouadjar, Bakar, Bygum, Anette, Tantcheva-Poor, Iliana, Hellström Pigg, Maritta, Has, Cristina, Yang, Zhou, Irvine, Alan D., Betz, Regina C., Zambruno, Giovanna, Tadini, Gianluca, Süssmuth, Kira, Gruber, Robert, Schmuth, Matthias, Mazereeuw-Hautier, Juliette, Jonca, Natalie, Guez, Sophie, Brena, Michela, Hernandez-Martin, Angela, van den Akker, Peter, Bolling, Maria C., Hannula-Jouppi, Katariina, Zimmer, Andreas D., Alter, Svenja, Vahlquist, Anders, Fischer, Judith

المصدر: Genes. 12(1)

مصطلحات موضوعية: ALOX12B, ALOXE3, ARCI, ichthyosis

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-435727Test
https://uu.diva-portal.org/smash/get/diva2:1532167/FULLTEXT01.pdfTest

المؤلفون: Bernerd, Françoise, Asselineau, Daniel, Vioux, Corinne, Chevallier-Lagente, Odile, Bouadjar, Bakar, Sarasin, Alain, Magnaldo, Thierry

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2001 Jul 01. 98(14), 7817-7822.

الوصول الحر: https://www.jstor.org/stable/3056082Test

المؤلفون: Bodak, Nathalie, Queille, Sophie, Avril, Marie Françoise, Bouadjar, Bakar, Drougard, Christiane, Sarasin, Alain, Daya-Grosjean, Leela

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1999 Apr . 96(9), 5117-5122.

الوصول الحر: https://www.jstor.org/stable/47358Test

المؤلفون: Ballin, Nadja, Hotz, Alrun, Bourrat, Emmanuelle, Küsel, Julia, Oji, Vinzenz, Bouadjar, Bakar, Brognoli, Davide, Hickman, Geoffroy, Heinz, Lisa, Vabres, Pierre, Marrakchi, Slaheddine, Leclerc‐Mercier, Stéphanie, Irvine, Alan, Tadini, Gianluca, Hamm, Henning, Has, Cristina, Blume‐Peytavi, Ulrike, Mitter, Diana, Reitenbach, Marina, Hausser, Ingrid, Zimmer, Andreas D., Alter, Svenja, Fischer, Judith

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

العلاقة: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/21274Test; urn:nbn:de:bvb:20-opus-212747; https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-212747Test; https://doi.org/10.1002/humu.23883Test; https://opus.bibliothek.uni-wuerzburg.de/files/21274/HUMU_HUMU23883.pdfTest

الإتاحة: https://doi.org/10.1002/humu.23883Test
https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/21274Test
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-212747Test
https://opus.bibliothek.uni-wuerzburg.de/files/21274/HUMU_HUMU23883.pdfTest

المؤلفون: Hotz, Alrun, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Komlosi, Katalin, Giehl, Kathrin, Bouadjar, Bakar, Bygum, Anette, Tantcheva-Poor, Iliana, Hellström Pigg, Maritta, Has, Cristina, Yang, Zhou, Irvine, Alan D., Betz, Regina C., Zambruno, Giovanna, Tadini, Gianluca, Süßmuth, Kira, Gruber, Robert, Schmuth, Matthias, Mazereeuw-Hautier, Juliette, Jonca, Natalie, Guez, Sophie, Brena, Michela, Hernandez-Martin, Angela, van den Akker, Peter, Bolling, Maria C., Hannula-Jouppi, Katariina, Zimmer, Andreas D., Alter, Svenja, Vahlquist, Anders, Fischer, Judith

وصف الملف: application/pdf

العلاقة: https://doi.org/10.3390/genes12010080Test; Hotz, A.; Kopp, J.; Bourrat, E.; Oji, V.; Komlosi, K.; Giehl, K.; Bouadjar, B.; Bygum, A.; Tantcheva-Poor, I.; Hellström Pigg, M.; Has, C.; Yang, Z.; Irvine, A.D.; Betz, R.C.; Zambruno, G.; Tadini, G.; Süßmuth, K.; Gruber, R.; Schmuth, M.; Mazereeuw-Hautier, J.; Jonca, N.; Guez, S.; Brena, M.; Hernandez-Martin, A.; van den Akker, P.; Bolling, M.C.; Hannula-Jouppi, K.; Zimmer, A.D.; Alter, S.; Vahlquist, A.; Fischer, J. Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Genes 2021, 12, 80.; http://hdl.handle.net/10138/573770Test

الإتاحة: https://doi.org/10.3390/genes12010080Test
http://hdl.handle.net/10138/573770Test

المؤلفون: Soufir, Nadem, Ged, Cecile, Bourillon, Agnes, Austerlitz, Frederic, Chemin, Cécile, Stary, Anne, Armier, Jacques, Pham, Daniele, Khadir, Khadija, Roume, Joelle, Hadj-Rabia, Smail, Bouadjar, Bakar, Taieb, Alain, de Verneuil, Hubert, Benchiki, Hakima, Grandchamp, Bernard, Sarasin, Alain

المصدر: Journal of Investigative Dermatology ; volume 130, issue 6, page 1537-1542 ; ISSN 0022-202X

مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1038/jid.2009.409Test
https://api.elsevier.com/content/article/PII:S0022202X15348703?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022202X15348703?httpAccept=text/plainTest

المؤلفون: Klar, Joakim, Schweiger, Martina, Zimmerman, Robert, Zechner, Rudolf, Li, Hao, Törmä, Hans, Vahlquist, Anders, Bouadjar, Bakar, Dahl, Niklas, Fischer, Judith

المصدر: The American Journal of Human Genetics ; volume 85, issue 2, page 248-253 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2009.06.021Test
https://api.elsevier.com/content/article/PII:S0002929709002821?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929709002821?httpAccept=text/plainTest

المؤلفون: Lesueur, Fabienne, Bouadjar, Bakar, Lefevre, Caroline, Jobard, Florence, Audebert, Stephanie, Lakhdar, Hakima, Martin, Ludovic, Tadini, Gianluca, Karaduman, Aysen, Emre, Serap, Saker, Safa, Lathrop, Mark, Fischer, Judith

المساهمون: Deri ve Zührevi Hastalıkları

مصطلحات موضوعية: Dermatology

وصف الملف: text/plain

العلاقة: Journal Of Investigative Dermatology; https://doi.org/10.1038/sj.jid.5700640Test; http://hdl.handle.net/11655/14561Test; 127; 829; 834

الإتاحة: https://doi.org/10.1038/sj.jid.5700640Test
http://hdl.handle.net/11655/14561Test

المؤلفون: Lathrop, Mark, Jobard, Florence, Audebert, Stephanie, Emre, SERAP, Tadini, Gianluca, Lesueur, Fabienne, Martin, Ludovic, Fischer, Judith, Bouadjar, Bakar, Lakhdar, Hakima, Lefevre, Caroline, Karaduman, Aysen, Saker, Safa

العلاقة: e7aa87b1-8080-4da9-8dec-abd01c0a17e3; https://avesis.hacettepe.edu.tr/publication/details/e7aa87b1-8080-4da9-8dec-abd01c0a17e3/oaiTest

الإتاحة: https://doi.org/10.1038/sj.jid.5700640Test
https://avesis.hacettepe.edu.tr/publication/details/e7aa87b1-8080-4da9-8dec-abd01c0a17e3/oaiTest