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1دورية أكاديمية
المؤلفون: Martina Witsch‐Baumgartner, Gunda Schwaninger, Simon Schnaiter, Franziska Kollmann, Silja Burkhard, Rebekka Gröbner, Beatrix Mühlegger, Esther Schamschula, Peter Kirchmeier, Johannes Zschocke
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)
مصطلحات موضوعية: DNA array, genetic test, genotyping, screening, single nucleotide variants, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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2دورية أكاديمية
المؤلفون: Sabine Jägle, Hazem A. Juratli, Geoffroy Hickman, Kira Süssmuth, Maria C. Boente, Julia Kopp, Peter Kirchmeier, Andreas Zimmer, Rudolf Happle, Emmanuelle Bourrat, Henning Hamm, Judith Fischer
المصدر: Acta Dermato-Venereologica, Vol 101, Iss 2, p adv00397 (2021)
مصطلحات موضوعية: mevalonate diphosphate decarboxylase gene, porokeratosis plantaris, palmaris et disseminata, linear porokeratosis, mosaicism, second hit, loss of heterozygosity, Dermatology, RL1-803
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Franz P. W. Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer
المصدر: PLoS Genetics, Vol 9, Iss 6 (2013)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Franz P W Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer
المصدر: PLoS Genetics, Vol 9, Iss 6, p e1003536 (2013)
وصف الملف: electronic resource
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المؤلفون: María del Carmen Boente, Judith Fischer, Sabine Jägle, Emmanuelle Bourrat, Julia Kopp, Henning Hamm, Peter Kirchmeier, Geoffroy Hickman, Andreas Zimmer, Hazem A. Juratli, Rudolf Happle, Kira Süssmuth
المصدر: Acta Dermato-Venereologica, Vol 101, Iss 2, p adv00397 (2021)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, DNA Mutational Analysis, Dermatology, Disseminated superficial actinic porokeratosis, medicine.disease_cause, Germline, Loss of heterozygosity, Keratin, second hit, Humans, Medicine, Sex organ, Genitalia, Skin, chemistry.chemical_classification, Mutation, linear porokeratosis, mevalonate diphosphate decarboxylase gene, business.industry, General Medicine, medicine.disease, porokeratosis plantaris, palmaris et disseminata, Zygosity, Porokeratosis, mosaicism, chemistry, RL1-803, loss of heterozygosity, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d94ab5a687c985900304bb2931d31c20
https://doi.org/10.2340/00015555-3753 -
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المؤلفون: Bakar Bouadjar, Bernd Rösler, Andreas Zimmer, Judith Fischer, Peter Kirchmeier
المصدر: Acta dermato-venereologica. 97(1)
مصطلحات موضوعية: 0301 basic medicine, Male, Genes, Recessive, Dermatology, Consanguinity, Frameshift mutation, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, In patient, Exome, Genetic Predisposition to Disease, Frameshift Mutation, Exome sequencing, Sequence Deletion, Genetics, Ichthyosis, business.industry, Haplotype, General Medicine, medicine.disease, Phenotype, 030104 developmental biology, Haplotypes, Algeria, Caspases, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da7af0bba25227d46b38df88b6cce13
https://pubmed.ncbi.nlm.nih.gov/27494380 -
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المؤلفون: Gwang-Jin Kim, Leila Abid, Werner Schempp, Franz P.W. Radner, Judith Fischer, Slaheddine Marrakchi, Hamida Turki, Peter Kirchmeier, Florence Ribierre, Roland Heilig, Mark Lathrop, Bourane Kamoun, Michael Leipoldt
المصدر: PLoS Genetics
PLoS Genetics, Vol 9, Iss 6 (2013)مصطلحات موضوعية: Genetics, Cancer Research, Section (typography), Congenital ichthyosis, Correction, Genomics, QH426-470, Biology, Molecular Biology, Genome, Genetics (clinical), Ecology, Evolution, Behavior and Systematics
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المؤلفون: Bourane Kamoun, Michael Leipoldt, Leila Abid, Werner Schempp, Slaheddine Marrakchi, Gwang-Jin Kim, Florence Ribierre, Roland Heilig, Peter Kirchmeier, Judith Fischer, Franz P.W. Radner, Hamida Turki, Mark Lathrop
المصدر: PLoS Genetics, Vol 9, Iss 6, p e1003536 (2013)
PLoS Geneticsمصطلحات موضوعية: Cancer Research, Heredity, Gene Identification and Analysis, Pediatric Dermatology, Genome-wide association study, medicine.disease_cause, ADAMTS Proteins, Autosomal Recessive, Sphingosine N-Acyltransferase, Congenital ichthyosis, Genetics (clinical), Genetics, Mutation, Splice site mutation, biology, Homozygote, Ceramide synthase 3, Linkage (Genetics), Genetic disorder, Phenotype, Organ Specificity, Cytogenetic Analysis, Medicine, RNA, Long Noncoding, Research Article, Tunisia, lcsh:QH426-470, Genotypes, Genes, Recessive, Dermatology, Polymorphism, Single Nucleotide, Molecular Genetics, Cytogenetics, Genetic Mutation, medicine, Animals, Humans, Biology, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Clinical Genetics, Sphingolipids, Human Genetics, Ichthyosiform Erythroderma, Congenital, medicine.disease, Sphingolipid, ADAM Proteins, lcsh:Genetics, Genetics of Disease, biology.protein, RNA Splice Sites, Gene Function, Genome-Wide Association Study