Ngā hua rapu - Judith Fischer
- E whakaatu ana i te 1 - 20 hua o te 37
- Haere ki te Whārangi Whai Ake
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Autosomal Recessive Congenital Ichthyosis mā Judith Fischer
I whakaputaina 2009Carta -
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Mutations in the gene encoding SLURP-1 in Mal de Meleda mā Judith Fischer
I whakaputaina 2001Artigo -
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Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes mā Cristina Has, Judith Fischer
I whakaputaina 2018Revisão -
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Genetics of Inherited Ichthyoses and Related Diseases mā Judith Fischer, E. Bourrat
I whakaputaina 2020Revisão -
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Nonsyndromic types of ichthyoses – an update mā Heiko Traupe, Judith Fischer, Vinzenz Oji
I whakaputaina 2013Revisão -
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Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients mā Anders Vahlquist, Anette Bygum, Agneta Gånemo, Marie Virtanen, Maritta Hellström-Pigg, Gitte Strauss, F Brandrup, Judith Fischer
I whakaputaina 2009Artigo -
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Adult neural stem cell activation in mice is regulated by the day/night cycle and intracellular calcium dynamics mā Archana Gengatharan, Sarah Malvaut, Alina Marymonchyk, Majid Ghareghani, Marina Snapyan, Judith Fischer, Jovica Ninkovic, Magdalena Götz, Armen Saghatelyan
I whakaputaina 2021Artigo -
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Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis mā Caroline Lefèvre, B. Bouadjar, Ayşen Karaduman, Florence Jobard, Safa Saker, Meral Özgüç, Mark Lathrop, Jean-François Prud’homme, Judith Fischer
I whakaputaina 2004Artigo -
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Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome mā Joakim Klar, Martina Schweiger, Robert J. Zimmerman, Rudolf Zechner, Hao Li, Hans Törmä, Anders Vahlquist, B. Bouadjar, Niklas Dahl, Judith Fischer
I whakaputaina 2009Artigo -
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Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history mā Cristina Has, Daniele Castiglia, Marcela Del Río, Marta Garcia Diez, Eugenia Piccinni, Dimitra Kiritsi, Jürgen Kohlhase, Peter Itin, Ludovic Martin, Judith Fischer, Giovanna Zambruno, Leena Bruckner‐Tuderman
I whakaputaina 2011Revisão -
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l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1 mā Meral Topçu, Florence Jobard, Sophie Halliez, Turgay Coşkun, Cengiz Yalçinkayal, Filiz Özbas‐Gerçeker, Ronald J. A. Wanders, Jean-François Prud’homme, Mark Lathrop, Meral Özgüç, Judith Fischer
I whakaputaina 2004Artigo -
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Heritability and Tissue Specificity of Expression Quantitative Trait Loci mā Enrico Petretto, Jonathan Mangion, Nicholas J. Dickens, Stuart A. Cook, Mande K. Kumaran, Lu Han, Judith Fischer, Henrike Maatz, Vladimı́r Křen, Michal Pravenec, Norbert Hübner, Timothy J. Aitman
I whakaputaina 2006Artigo -
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PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides mā Susanne Grond, Thomas O. Eichmann, Sandrine Dubrac, Dagmar Kolb, Matthias Schmuth, Judith Fischer, Debra Crumrine, Peter M. Elias, Guenter Haemmerle, Rudolf Zechner, Achim Lass, Franz P.W. Radner
I whakaputaina 2016Artigo -
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Defining the Adult Neural Stem Cell Niche Proteome Identifies Key Regulators of Adult Neurogenesis mā Jacob Kjell, Judith Fischer, Amelia J. Thompson, Christian Friess, Matthew J. Sticco, Favio Salinas, Jürgen Cox, David C. Martinelli, Jovica Ninkovic, Kristian Franze, Herbert B. Schiller, Magdalena Götz
I whakaputaina 2020Artigo -
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Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans mā Franz P.W. Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribiérre, B. Kamoun, Leïla Abid, M. Leipoldt, H. Turki, W. Schempp, Roland Heilig, Mark Lathrop, Judith Fischer
I whakaputaina 2013Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Biology
Genetics
Gene
Medicine
Ichthyosis
Cell biology
Congenital ichthyosis
Dermatology
Biochemistry
Missense mutation
Mutation
Internal medicine
Lamellar ichthyosis
Phenotype
Neuroscience
Pathology
Endocrinology
Gene expression
Hyperkeratosis
Nonsense mutation
Palmoplantar keratoderma
Cell
Chemistry
Disease
Enzyme
Immunology
Locus (genetics)
Neural stem cell
Physics
Psoriasis