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1دورية أكاديمية
المؤلفون: Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer
المصدر: Genes, Vol 15, Iss 3, p 288 (2024)
مصطلحات موضوعية: erythrokeratodermia variabilis, autosomal recessive congenital ichthyosis (ARCI), ABCA12, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C. Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V. Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas D. Zimmer, Svenja Alter, Judith Fischer
المصدر: Genes, Vol 14, Iss 3, p 717 (2023)
مصطلحات موضوعية: ABCA12, ARCI, harlequin ichthyosis, lamellar ichthyosis, congenital ichthyosiform erythroderma, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Katalin Komlosi, Selina Gläser, Julia Kopp, Alrun Hotz, Svenja Alter, Andreas D. Zimmer, Carmela Beger, Stefan Heinzel, Christoph Schmidt, Judith Fischer
المصدر: JIMD Reports, Vol 55, Iss 1, Pp 51-58 (2020)
مصطلحات موضوعية: CDG, COG6, genodermatoses, restrictive dermopathy, WES, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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4دورية أكاديمية
المؤلفون: Katalin Komlosi, Olivier Claris, Sophie Collardeau-Frachon, Julia Kopp, Ingrid Hausser, Juliette Mazereeuw-Hautier, Nathalie Jonca, Andreas D. Zimmer, Damien Sanlaville, Judith Fischer
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: DOLK, congenital disorders of glycosylation, whole exome sequencing, Mendelian disorders of cornification, syndromic ichthyosis, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.719624/fullTest; https://doaj.org/toc/1664-8021Test
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5دورية أكاديمية
المؤلفون: Anna Clara Schnause, Katalin Komlosi, Barbara Herr, Jürgen Neesen, Paul Dremsek, Thomas Schwarz, Andreas Tzschach, Sabine Jägle, Ekkehart Lausch, Judith Fischer, Birgitta Gläser
المصدر: Genes, Vol 12, Iss 11, p 1836 (2021)
مصطلحات موضوعية: FBN1, Marfan syndrome, apparently balanced chromosomal rearrangements (ABCR), optical genome mapping (OGM), gene disruption, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Katalin Komlosi, Stefan Diederich, Desiree Lucia Fend-Guella, Oliver Bartsch, Jennifer Winter, Ulrich Zechner, Michael Beck, Peter Meyer, Susann Schweiger
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)
مصطلحات موضوعية: next generation sequencing, panel diagnostics, consanguineous, carrier screening, autosomal recessive, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-018-0763-0Test; https://doaj.org/toc/1750-1172Test
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7دورية أكاديمية
المؤلفون: Luise D. Resch, Alrun Hotz, Andreas D. Zimmer, Katalin Komlosi, Nina Singh, Andreas Tzschach, Marisa Windfuhr-Blum, Ingolf Juhasz-Boess, Thalia Erbes, Judith Fischer, Svenja Alter
المصدر: Genes, Vol 12, Iss 10, p 1483 (2021)
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Dominique Endres, Patrick Süß, Simon J. Maier, Evelyn Friedel, Kathrin Nickel, Christiane Ziegler, Bernd L. Fiebich, Franz X. Glocker, Friedrich Stock, Karl Egger, Thomas Lange, Michael Dacko, Nils Venhoff, Daniel Erny, Soroush Doostkam, Katalin Komlosi, Katharina Domschke, Ludger Tebartz van Elst
المصدر: Frontiers in Immunology, Vol 10 (2019)
مصطلحات موضوعية: MELAS, mitochondrial disease, polyglandular autoimmune syndrome, ND4 gene, dysexecutive syndrome, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fimmu.2019.00412/fullTest; https://doaj.org/toc/1664-3224Test
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9دورية أكاديمية
المؤلفون: Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Katalin Komlosi, Kathrin Giehl, Bakar Bouadjar, Anette Bygum, Iliana Tantcheva-Poor, Maritta Hellström Pigg, Cristina Has, Zhou Yang, Alan D. Irvine, Regina C. Betz, Giovanna Zambruno, Gianluca Tadini, Kira Süßmuth, Robert Gruber, Matthias Schmuth, Juliette Mazereeuw-Hautier, Natalie Jonca, Sophie Guez, Michela Brena, Angela Hernandez-Martin, Peter van den Akker, Maria C. Bolling, Katariina Hannula-Jouppi, Andreas D. Zimmer, Svenja Alter, Anders Vahlquist, Judith Fischer
المصدر: Genes, Vol 12, Iss 1, p 80 (2021)
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Dominique Endres, Niels Decher, Isabell Röhr, Kirsty Vowinkel, Katharina Domschke, Katalin Komlosi, Andreas Tzschach, Birgitta Gläser, Miriam A. Schiele, Kimon Runge, Patrick Süß, Florian Schuchardt, Kathrin Nickel, Birgit Stallmeyer, Susanne Rinné, Eric Schulze-Bahr, Ludger Tebartz van Elst
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 22, p 8611 (2020)
مصطلحات موضوعية: CACNA1C, CaV1.2, autism, short QT syndrome, dental enamel defect, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/21/22/8611Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test