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1دورية أكاديمية
المؤلفون: Ivonne Alexandra Bedei, Alexander Graf, Karl-Philipp Gloning, Matthias Meyer-Wittkopf, Daria Willner, Martin Krapp, Sabine Hentze, Alexander Scharf, Jan Degenhardt, Kai-Sven Heling, Peter Kozlowski, Kathrin Trautmann, Kai Jahns, Anne Geipel, Ismail Tekesin, Michael Elsässer, Lucas Wilhelm, Ingo Gottschalk, Jan-Erik Baumüller, Cahit Birdir, Felix Zöllner, Aline Wolter, Johanna Schenk, Tascha Gehrke, Corinna Keil, Jimmy Espinosa, Roland Axt-Fliedner
المصدر: Journal of Clinical Medicine, Vol 11, Iss 15, p 4588 (2022)
مصطلحات موضوعية: Mirror syndrome, fetal hydrops, Turner syndrome, monosomy X, placental hydrops, placentomegaly, Medicine
وصف الملف: electronic resource
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المؤلفون: Jonathan Lukas Lühmann, Gunnar Schmidt, Bernd Auber, Anke Katharina Bergmann, Oliver Brandau, Anja Louis, Sabine Hentze, Katrin Eisfeld, Brigitte Schlegelberger, Ruediger Klaes, Doris Steinemann
المصدر: American Journal of Medical Genetics Part A.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Alma Kuechler, Wolfram Klein, Ruth Falb, Tilman Heinrich, Susanne Haen, Amelie J. Müller, Natalia Prodan, Eva M. C. Schwaibold, Andreas Dufke, Marc Sturm, Nina Hirt, Mona Grimmel, Markus Hoopmann, Ulrich Gembruch, Petra Stöbe, Dirk Emmerich, Silke Hartmann, Stephan Waldmüller, Ute Grasshoff, Glen Kristiansen, Olga Kelemen, Armin Neumann, Darja Gauck, Dieter Gläser, Karl Oliver Kagan, Tobias B. Haack, Rebecca Buchert, Stefanie Beck-Wödl, Nicola Dikow, Christoph Schmidt, Ismail Tekesin, Sabine Hentze, Denise Horn, Olaf Riess, Martin Kehrer, Joohyun Park, Stephan Ossowski, Felix Distelmaier, Stephanie Spranger, Reiner Siebert, Luisa Averdunk
المصدر: Journal of Medical Genetics. 60:48-56
مصطلحات موضوعية: Genetics, Arthrogryposis, Medizin, Neuropathologie, Disease, Biology, Neuromuscular diseases, medicine.disease, Phenotype, Pathogenesis, Neuromuskuläre Krankheit, Pulmonary hypoplasia, DDC 570 / Life sciences, Locus heterogeneity, ddc:570, Nervous system diseases, medicine, ddc:610, Genetik, medicine.symptom, DDC 610 / Medicine & health, Gene, Genetics (clinical), Exome sequencing
وصف الملف: application/pdf
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المؤلفون: Francesca, Forzano, Olga, Antonova, Angus, Clarke, Guido, de Wert, Sabine, Hentze, Yalda, Jamshidi, Yves, Moreau, Markus, Perola, Inga, Prokopenko, Andrew, Read, Alexandre, Reymond, Vigdis, Stefansdottir, Carla, van El, Maurizio, Genuardi, Fiona, Ulph
المصدر: European journal of human genetics : EJHG.
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المؤلفون: Ruth J, Falb, Amelie J, Müller, Wolfram, Klein, Mona, Grimmel, Ute, Grasshoff, Stephanie, Spranger, Petra, Stöbe, Darja, Gauck, Alma, Kuechler, Nicola, Dikow, Eva M C, Schwaibold, Christoph, Schmidt, Luisa, Averdunk, Rebecca, Buchert, Tilman, Heinrich, Natalia, Prodan, Joohyun, Park, Martin, Kehrer, Marc, Sturm, Olga, Kelemen, Silke, Hartmann, Denise, Horn, Dirk, Emmerich, Nina, Hirt, Armin, Neumann, Glen, Kristiansen, Ulrich, Gembruch, Susanne, Haen, Reiner, Siebert, Sabine, Hentze, Markus, Hoopmann, Stephan, Ossowski, Stephan, Waldmüller, Stefanie, Beck-Wödl, Dieter, Gläser, Ismail, Tekesin, Felix, Distelmaier, Olaf, Riess, Karl-Oliver, Kagan, Andreas, Dufke, Tobias B, Haack
المصدر: Journal of medical genetics.
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المؤلفون: Christine Patch, Sabine Hentze, Eirny Thorolfsdottir, Christophe Cordier, Vigdis Stefansdottir, Álvaro Mendes, Hakon B Hognason, Jon J. Jonsson, Carla G. van El
المساهمون: Human genetics, APH - Personalized Medicine, APH - Quality of Care
المصدر: Eur J Hum Genet
Stefansdottir, V, Thorolfsdottir, E, Hognason, H B, Patch, C, van El, C, Hentze, S, Cordier, C, Mendes, Á & Jonsson, J J 2020, ' Web-based return of BRCA2 research results : one-year genetic counselling experience in Iceland ', European Journal of Human Genetics, vol. 28, no. 12, pp. 1656-1661 . https://doi.org/10.1038/s41431-020-0665-1
European Journal of Human Genetics, 28(12), 1656-1661. Nature Publishing Groupمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Patients, media_common.quotation_subject, Genetic counseling, Emotions, MEDLINE, Iceland, Genetic Counseling, Disclosure, Text message, Article, 03 medical and health sciences, Gratitude, Genetics, medicine, Web application, Humans, Genetics (clinical), media_common, Aged, Aged, 80 and over, BRCA2 Protein, 0303 health sciences, Internet, business.industry, Genetic Carrier Screening, 030305 genetics & heredity, Middle Aged, language.human_language, Patient Satisfaction, Family medicine, language, Research studies, Anxiety, Hereditary Breast and Ovarian Cancer Syndrome, Female, medicine.symptom, business, Icelandic, Psychology
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المؤلفون: Thomas R. W. Herrmann, Barbara Selle, Martin Volkmann, Sabine Hentze, Wolfgang Stremmel, Sven G. Gehrke, Rudolf Richter, Michaela Hör, Hendrik Hasche
المصدر: Clinical chemistry and laboratory medicineReferences. 57(12)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Iron, Clinical Biochemistry, 030105 genetics & heredity, Genetic analysis, Cataract, law.invention, 03 medical and health sciences, law, Germany, Medicine, Humans, Family, Genetic Testing, Family history, Polymerase chain reaction, Aged, Aged, 80 and over, biology, Juvenile cataract, Base Sequence, Transferrin saturation, business.industry, Biochemistry (medical), General Medicine, Middle Aged, Iron Metabolism Disorders, Iron response element, Pedigree, Ferritin, Ferritin light chain, 030104 developmental biology, Immunology, Apoferritins, Ferritins, Mutation, biology.protein, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cac1e63af8a85d65a103041ebf994c28
https://pubmed.ncbi.nlm.nih.gov/31211687 -
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المؤلفون: Philipp, Erhart, Tobias, Brandt, Beate K, Straub, Ingrid, Hausser, Sabine, Hentze, Dittmar, Böckler, Caspar, Grond-Ginsbach
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: Adult, Male, Aortic Diseases, Clinical Reports, whole exome sequencing, Gene Duplication, Databases, Genetic, Exome Sequencing, Humans, familial thoracic aortic aneurysm and dissection, Exome, Family, Genetic Predisposition to Disease, Aorta, Aged, Clinical Report, Aortic Aneurysm, Thoracic, Middle Aged, Pedigree, Aortic Dissection, Phenotype, Chromosome Structures, Mutation, cardiovascular system, Female, cosegregation, duplication 16p13.1, Chromosomes, Human, Pair 16
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المؤلفون: Dirk Reinhardt, Andreas E. Kulozik, Michael Bonin, Sabine Hentze, Claus R. Bartram, Wolfgang Behnisch, Ute Grasshoff, Olaf Rieß, Karin A. Koch, Johannes W.G. Janssen, Obul Reddy Bandapalli, Ute Moog, Peer Bork, Anna Jauch, Jan O. Korbel, Tobias Doerks, Susanne Haemmerling
المصدر: British journal of haematology. 157(2)
مصطلحات موضوعية: Male, Down syndrome, Single-nucleotide polymorphism, Biology, Promyelocytic Leukemia Protein, Germline, Promyelocytic leukemia protein, Myeloproliferative Disorders, Leukemia, Megakaryoblastic, Acute, medicine, Humans, GATA1 Transcription Factor, Child, Ubiquitins, Sequence Deletion, Genetics, Chromosomes, Human, Pair 15, Tumor Suppressor Proteins, Infant, Nuclear Proteins, GATA1, Hematology, medicine.disease, Child, Preschool, Cancer research, biology.protein, Down Syndrome, Trisomy, Chromosome 21, Transcription Factors
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المؤلفون: Hans-Ullrich Boll, Christine Haag, Angela Lorenz, Sabine Hentze, Friedhelm Raue, Wolfgang Höppner, Karin Frank-Raue, Dietrich Knorr
المصدر: European journal of endocrinology. 150(6)
مصطلحات موضوعية: Adult, Thyroid Hormone Resistance Syndrome, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Biology, Hyperkinesis, medicine.disease_cause, Polymerase Chain Reaction, Endocrinology, Mutant protein, Internal medicine, Intellectual Disability, Tachycardia, medicine, Humans, Euthyroid, Amino Acid Sequence, Allele, Mutation, Thyroid hormone receptor, Receptors, Thyroid Hormone, Base Sequence, Thyroid, Homozygote, Autosomal dominant trait, General Medicine, medicine.disease, Thyroid hormone resistance, medicine.anatomical_structure, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaa86f47626781e99df448f664b8c57a
https://pubmed.ncbi.nlm.nih.gov/15191352
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