المؤلفون: Shalini S. Nayak, Pauline E. Schneeberger, Siddaramappa J. Patil, Karegowda M. Arun, Pujar V. Suresh, Viralam S. Kiran, Sateesh Siddaiah, Shreesha Maiya, Shrikanth K. Venkatachalagupta, Neethukrishna Kausthubham, Fanny Kortüm, Isabella Rau, Alexandra Wey-Fabrizius, Lotte Van Den Heuvel, Josephina Meester, Lut Van Laer, Anju Shukla, Bart Loeys, Katta M. Girisha, Kerstin Kutsche

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/f21f727d6c214802940b31d4975ffaa6

المؤلفون: Kloth Katja, Vater Inga, Lindschau Ramona, Isabella Rau, Caliebe Almuth, Muschol Nicole Maria

المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100660- (2020)

مصطلحات موضوعية: Mucopolysaccharidosis type I (MPS I), IDUA, UPD, Partial maternal isodisomy, Chromosome 4, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920301063; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/ff5a833fd20744ad8d65f99df4ccabb0

المؤلفون: M. Kutsche, Fanny Kortüm, Y. Von Kodolitsch, Christian Kubisch, Isabella Rau, Helke Schüler, Alexandra Wey-Fabrizius, Kerstin Kutsche, Thomas S. Mir, Georg Rosenberger, H. Reichenspurner, Till Demal

المصدر: The Thoracic and Cardiovascular Surgeon.

مصطلحات موضوعية: Yield (finance), Computational biology, Biology, Aortic disease, DNA sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::aaaba5b9ee08cc2cbf66e53e08a153ea
https://doi.org/10.1055/s-0041-1725681

المؤلفون: Isabella Rau, Alexander E Volk, Kerstin Kutsche, Axel Neu, Wiebke Hülsemann, Katja Kloth

المصدر: European Journal of Medical Genetics. 64:104161

مصطلحات موضوعية: 0301 basic medicine, Contracture, Adolescent, Fibrillin-2, media_common.quotation_subject, Nonsense, Elastic fiber assembly, 030105 genetics & heredity, Biology, Compound heterozygosity, 03 medical and health sciences, Genetics, medicine, Humans, Missense mutation, Congenital contractural arachnodactyly, Gene, Alleles, Genetics (clinical), media_common, General Medicine, medicine.disease, Null allele, Hypoplasia, Arachnodactyly, 030104 developmental biology, Mutation, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a158a94b0e1dee5c6cb3457bb0571e05
https://doi.org/10.1016/j.ejmg.2021.104161

المؤلفون: Rixa Woitschach, Helke Schüler, Sara Sheikhzadeh, Jakob Olfe, Melanie J Hartmann, Alexandra Wey-Fabrizius, Christine Petersen, Alexander E Volk, Malik Alawi, Dagmar Wieczorek, Meike Rybczynski, Friederike Sophia Seggewies, Kerstin Kutsche, Isabella Rau, Diana Mitter, Georg Rosenberger, Veronika Stark, Margarete Koch-Hogrebe, Sina Renner, Yskert von Kodolitsch, Verena Kolbe, Christian Kubisch, Rami Abou Jamra, Maja Hempel, Thomas S. Mir, Guntram Borck, Janine Altmüller, Mathias Hillebrand, Katja Kloth, Adrian Mahlmann, Elke Roser

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 21(8)

مصطلحات موضوعية: Genetics, Marfan syndrome, Adult, Male, Connective Tissue Disorder, High-Throughput Nucleotide Sequencing, Disease, Biology, Quantitative trait locus, medicine.disease, DNA sequencing, Marfan Syndrome, Cohort Studies, Connective Tissue, Cohort, medicine, Humans, Female, Genetic Testing, Connective Tissue Diseases, Gene, Genetics (clinical), Exome sequencing, Aorta, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1a0cd78e87f119aae0a41336b37e8b0
https://pubmed.ncbi.nlm.nih.gov/30675029

المؤلفون: Gökhan Uyanik, Udo Koehler, Richard H Scott, Nicolas Chassaing, Birgit Zirn, Neophytos Apeshiotis, Marisol Heise, Bettina Chilian, Ute Grasshoff, Gudrun A. Rappold, Bertrand Isidor, Ute Moog, Tatjana Bierhals, Gregor Schlüter, Christine Coubes, Hilde Van Esch, Stefanie Balg, Kerstin Kutsche, Barbara Oehl-Jaschkowitz, Hartmut Engels, William B. Dobyns, Joanna Jarvis, Eva Wohlleber, Günther Rettenberger, Isabella Rau, Soma Das, Els Ortibus, Moonef Shoukier, Thomas Martin, Prab Prabhakar, Fanny Kortüm, Daniela T. Pilz

المصدر: Journal of Medical Genetics. 48:741-751

مصطلحات موضوعية: Heterozygote, medicine.medical_specialty, Pathology, Microcephaly, Genotype, Molecular Sequence Data, Gene Dosage, Neuroimaging, Postnatal microcephaly, Biology, Real-Time Polymerase Chain Reaction, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Gene Duplication, Intellectual Disability, Molecular genetics, Genetics, medicine, Humans, CASK, Child, Cerebellar hypoplasia, Genetic Association Studies, In Situ Hybridization, Fluorescence, Genetics (clinical), Sequence Deletion, 030304 developmental biology, 0303 health sciences, Optic nerve hypoplasia, Base Sequence, Brain, Genetic Variation, Infant, medicine.disease, Null allele, Molecular biology, Hypotonia, Phenotype, Child, Preschool, Karyotyping, Female, medicine.symptom, Guanylate Kinases, Biomarkers, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca4f3577137764290d9ace245620b872
https://doi.org/10.1136/jmedgenet-2011-100218

المؤلفون: Marta Gandía, Antonio Viñuela, Christian A. Hübner, Felipe Moreno, Antje K. Huebner, Luis A. Aguirre, Ingo Kurth, Peter Nürnberg, Janine Altmüller, Peter Frommolt, Isabella Rau, Eva Maria Wicklein, Hannes Maier, Florian Wagner, Anika Maak, Gudrun Nürnberg, Andreas Gal, Ignacio del Castillo, Sebastian Gießelmann, Holger Thiele

المصدر: The American Journal of Human Genetics. 88:621-627

مصطلحات موضوعية: Male, Adolescent, Genetic Linkage, Hearing loss, media_common.quotation_subject, Nonsense mutation, Nonsense, Muscle Proteins, Locus (genetics), Biology, Mice, Genetic linkage, Report, Hair Cells, Auditory, otorhinolaryngologic diseases, Genetics, medicine, Animals, Humans, Genetics(clinical), Age of Onset, Allele, Child, Hearing Loss, Alleles, Genetics (clinical), media_common, Chromosomes, Human, X, Genetic heterogeneity, Cochlea, Pedigree, Mice, Inbred C57BL, Haplotypes, Codon, Nonsense, Child, Preschool, Ear, Inner, Chromosomal region, Female, medicine.symptom, Genome-Wide Association Study, HeLa Cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9a2e3794e24778dd3380e5ef883e7f8
https://doi.org/10.1016/j.ajhg.2011.04.007

المؤلفون: Andreas Gal, Daniel F. Schorderet, Debra A. Thompson, Elsebet Østergaard, Susanne Fehr, Ibtissem Chouchane, Josefine Fuchs, Isabella Rau, Monika Rehbein, Thomas Rosenberg, Yun Li, Kaj Vilhelmsen, K. Baklouti, Hans-Jürgen Kreienkamp, Francis L. Munier, Hans C. Fledelius, Leila El Matri

المصدر: American journal of human genetics

مصطلحات موضوعية: Models, Molecular, Population, Mutant, DNA Mutational Analysis, Molecular Sequence Data, Locus (genetics), Genes, Recessive, Biology, Compound heterozygosity, Eye, Gene Expression Regulation, Enzymologic, 03 medical and health sciences, Mice, 0302 clinical medicine, Report, Gene duplication, Genetics, Animals, Humans, Microphthalmos, Family, Genetics(clinical), Amino Acid Sequence, education, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, Base Sequence, Point mutation, Serine Endopeptidases, Molecular biology, Null allele, Meiosis, Genetic Loci, Mutation, 030221 ophthalmology & optometry, Serine Proteases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86d927ed6a4a3893a80e46b55b49faaa

المؤلفون: Helmar C. Lehmann, Gilbert Wunderlich, Gereon R. Fink, Isabella Rau, Veronika Dunkl

المصدر: Journal of the Neurological Sciences. 367:81-82

مصطلحات موضوعية: 0301 basic medicine, Genetics, business.industry, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Start codon, Mutation (genetic algorithm), medicine, Adrenoleukodystrophy, Neurology (clinical), business, Novel mutation, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0132ac195ff518171e11275be6c0e5e4
https://doi.org/10.1016/j.jns.2016.05.047

المؤلفون: Christiane Zweier, Madeleine Joubert, Ute Moog, Isabella Rau, Sigrid Fuchs, Hiram Larangeira de Almeida, Bertrand Isidor, Augusta M. A. Lachmeijer, Helen Fryssira, Vanessa A. van Rahden, Anna Jauch, Friederike K Kosyna, Kerstin Kutsche

المساهمون: Institute of Human Genetics, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Dermatology, Federal and Catholic University of Pelotas, Medical Genetics, 'Aghia Sophia' Children's Hospital, Unité de Génétique Clinique, Centre hospitalier universitaire de Nantes (CHU Nantes), Physiopathologie des Adaptations Nutritionnelles (PhAN), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Human Genetics Institute, Heidelberg University, Service de Pathologie, Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Femme-Enfant-Adolescent, Department of Clinical Genetics, VU University Medical Center [Amsterdam], Institute of Human Genetics [Erlangen, Allemagne], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), BMC, Ed., Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN), Hôpital Femme-Enfant-Adolescent-Centre hospitalier universitaire de Nantes (CHU Nantes), Human genetics, EMGO - Quality of care

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.53. ⟨10.1186/1750-1172-9-53⟩
Orphanet Journal of Rare Diseases, 9:53. BioMed Central
van Rahden, V A, Rau, I, Fuchs, S, Kosyna, F K, de Almeida, H L, Fryssira, H, Isidor, B, Jauch, A, Joubert, M, Lachmeijer, A M A, Zweier, C, Moog, U & Kutsche, K 2014, ' Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome ', Orphanet Journal of Rare Diseases, vol. 9, 53 . https://doi.org/10.1186/1750-1172-9-53

مصطلحات موضوعية: Microcephaly, Pathology, HCCS, [SDV.GEN] Life Sciences [q-bio]/Genetics, Microphthalmia, 610 Medical sciences Medicine, Linear skin defects, Medizinische Fakultät, Microphthalmos, Genetics(clinical), Pharmacology (medical), Child, Genetics (clinical), X chromosome, Skin, Medicine(all), 0303 health sciences, medicine.diagnostic_test, 030305 genetics & heredity, Genetic Diseases, X-Linked, General Medicine, 3. Good health, Child, Preschool, Female, medicine.medical_specialty, Monosomy, 03 medical and health sciences, Internal medicine, medicine, Humans, ddc:610, Sclerocornea, 030304 developmental biology, X-linked, Chromosomes, Human, X, [SDV.GEN]Life Sciences [q-bio]/Genetics, Anophthalmia, business.industry, Research, Infant, medicine.disease, Endocrinology, Skin Abnormalities, X chromosome inactivation, business, Fluorescence in situ hybridization

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a29f6f7dfe1d0bcd60f948d37a1dff6
https://doi.org/10.1186/1750-1172-9-53

المؤلفون: Miguel Angel Alcántara-Ortigoza, Raul E. Piña-Aguilar, Yuritzi Santillán-Hernández, Monica S. Lopez-Martinez, Andreas Gal, Gerardo R. Zaragoza-Arévalo, Isabella Rau

المصدر: European journal of medical genetics. 56(3)

مصطلحات موضوعية: Genetics, Heterozygote, Mutant, Iduronate-2-sulfatase, Locus (genetics), Hunter syndrome, General Medicine, Hemizygosity, Exons, Iduronate Sulfatase, Biology, medicine.disease, Exon, Receptors, Androgen, X Chromosome Inactivation, Child, Preschool, Mutation, medicine, Humans, Female, Mucopolysaccharidosis type II, Skewed X-inactivation, Genetics (clinical), Mucopolysaccharidosis II

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d8b567ac112e53260ede99f9aaad4d9
https://pubmed.ncbi.nlm.nih.gov/23232253

المؤلفون: Isabella Rau, Marcus Karlstetter, Eberhart Zrenner, Yvan Arsenijevic, Joseph C. Corbo, Thomas Langmann, Bernhard H. F. Weber, Silvio Alessandro Di Gioia, Heidi Stöhr, Nela S. Maksimovic, Agnes B. Renner, Andreas Gal, Govindasamy Kumaramanickavel, Carlo Rivolta

المصدر: American journal of human genetics

مصطلحات موضوعية: Retinal degeneration, genetic structures, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Outer plexiform layer, Locus (genetics), Genes, Recessive, Biology, Retina, 03 medical and health sciences, Mice, 0302 clinical medicine, Genes, Reporter, Report, Retinitis pigmentosa, medicine, Genetics, Animals, Humans, Genetics(clinical), Amino Acid Sequence, RNA, Messenger, Eye Proteins, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Binding Sites, Base Sequence, Retinal Degeneration, Gene Expression Regulation, Developmental, Disease gene identification, medicine.disease, eye diseases, medicine.anatomical_structure, Codon, Nonsense, Genetic Loci, 030221 ophthalmology & optometry, sense organs, Chromatin immunoprecipitation, Retinitis Pigmentosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07634f23c65bb8bc089c80e20fb7fc49
https://pubmed.ncbi.nlm.nih.gov/20705278

المؤلفون: Nawar Naseer, Marisa S Egan, Valeria M Reyes Ruiz, William P Scott, Emma N Hunter, Tabitha Demissie, Isabella Rauch, Igor E Brodsky, Sunny Shin

المصدر: PLoS Pathogens, Vol 18, Iss 1, p e1009718 (2022)

مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7366; https://doaj.org/toc/1553-7374

URL الوصول: https://doaj.org/article/6b598c8d660a4ecbb24d13321796015b

المؤلفون: Katherine A Deets, Randilea Nichols Doyle, Isabella Rauch, Russell E Vance

المصدر: eLife, Vol 10 (2021)

مصطلحات موضوعية: inflammasome, antigen presentation, intestinal epithelial cells, adaptive immunity, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/72082; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/cbdb6ad670744432b166e24d5255f12d

المؤلفون: Vanessa A Van Rahden, Isabella Rau, Sigrid Fuchs, Friederike K Kosyna, Hiram Larangeira, Helen Fryssira, Anna Jauch, Madeleine Joubert, Augusta M A Lachmeijer, Christiane Zweier, Ute Moog, Kerstin Kutsche

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://hal.univ-nantes.fr/docs/00/98/18/54/PDF/1750-1172-9-53.pdf.

مصطلحات موضوعية: HCCS, Microphthalmia, X-linked, Linear skin defects, X chromosome inactivation * Correspondence

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.635.9156; http://hal.univ-nantes.fr/docs/00/98/18/54/PDF/1750-1172-9-53.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.635.9156
http://hal.univ-nantes.fr/docs/00/98/18/54/PDF/1750-1172-9-53.pdf

المؤلفون: K Müssig, Ludger Schöls, Matthis Synofzik, Isabella Rau, Andreas Gal, F Blaschka

المصدر: DMW - Deutsche Medizinische Wochenschrift. 136:1316-1316

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4bd59f7b3d3383df9254dd20d7d32af9
https://doi.org/10.1055/s-0030-1247625

المؤلفون: Patrick S Mitchell, Justin L Roncaioli, Elizabeth A Turcotte, Lisa Goers, Roberto A Chavez, Angus Y Lee, Cammie F Lesser, Isabella Rauch, Russell E Vance

المصدر: eLife, Vol 9 (2020)

مصطلحات موضوعية: Shigella, shigellosis, inflammasome, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/59022; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/8044749c69d44811bb724f47313413ff

المؤلفون: Shauna M Crowley, Xiao Han, Joannie M Allaire, Martin Stahl, Isabella Rauch, Leigh A Knodler, Bruce A Vallance

المصدر: PLoS Pathogens, Vol 16, Iss 4, p e1008498 (2020)

مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7366; https://doaj.org/toc/1553-7374

URL الوصول: https://doaj.org/article/038531766fc4486bbc499e93c5ab38da

المؤلفون: Augusto V Gonçalves, Shally R Margolis, Gustavo F S Quirino, Danielle P A Mascarenhas, Isabella Rauch, Randilea D Nichols, Eduard Ansaldo, Mary F Fontana, Russell E Vance, Dario S Zamboni

المصدر: PLoS Pathogens, Vol 15, Iss 6, p e1007886 (2019)

مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7366; https://doaj.org/toc/1553-7374

URL الوصول: https://doaj.org/article/59137ac06adb47fd85a53405d252b437

المؤلفون: Isabella Rauch

المصدر: Bio-Protocol, Vol 8, Iss 21 (2018)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://bio-protocol.org/en/bpdetail?id=3066&type=0; https://doaj.org/toc/2331-8325

URL الوصول: https://doaj.org/article/478c745cdfc14a8483da9922c6ff6753