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المؤلفون: Christianne A. van Nieuwenhoven, Max Mann, Wiebke Hülsemann
المصدر: Journal of Hand Surgery (European Volume). 48:222-229
مصطلحات موضوعية: Surgery
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المؤلفون: Darja Sippel, Wiebke Hülsemann
المصدر: Handchirurgie · Mikrochirurgie · Plastische Chirurgie. 54:178-186
مصطلحات موضوعية: Orthopedics and Sports Medicine, Surgery
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المؤلفون: Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhaes, Shaon Basu, Martin Kircher, Henrike L. Sczakiel, Alisa M. V. Reiter, Jonas Elsner, Peter Meinecke, Saskia Biskup, Brian H. Y. Chung, Gregor Dombrowsky, Christel Eckmann-Scholz, Marc Phillip Hitz, Alexander Hoischen, Paul-Martin Holterhus, Wiebke Hülsemann, Kimia Kahrizi, Vera M. Kalscheuer, Anita Kan, Mandy Krumbiegel, Ingo Kurth, Jonas Leubner, Ann Carolin Longardt, Jörg D. Moritz, Hossein Najmabadi, Karolina Skipalova, Lot Snijders Blok, Andreas Tzschach, Eberhard Wiedersberg, Martin Zenker, Carla Garcia-Cabau, René Buschow, Xavier Salvatella, Matthew L. Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz
المصدر: Nature
Nature, 614, 7948, pp. 564-571
Nature, 614, 564-571مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Multidisciplinary, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Genetics, Proteins, Proteïnes, Genètica
وصف الملف: application/pdf
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المؤلفون: Erica H. Gerkes, Ingo Kurth, Beyhan Tüysüz, Isabel Filges, Martin A. Mensah, Stefan Mundlos, Susanne Markus, Luitgard Graul-Neumann, Wiebke Hülsemann, Daniel Svoboda, Manuel Holtgrewe, Nursel Elcioglu, Marie Coutelier, Almuth Caliebe, Aleksander Jamsheer, Jonas Elsner, Christopher Teller, Stefania Bigoni, Rixa Woitschach, Malte Spielmann, Inga Vater, Jakob Hertzberg, Miriam S. Reuter, Peter Krawitz, Katta M. Girisha, Deepthi De Silva, Denise Horn, André Mégarbané, André Reis, Andreas Busche, Meredith Wilson, Seval Türkmen
المساهمون: Elsner, Jonas, Mensah, Martin A., Holtgrewe, Manuel, Hertzberg, Jakob, Bigoni, Stefania, Busche, Andreas, Coutelier, Marie, de Silva, Deepthi C., Elcioglu, Nursel, Filges, Isabel, Gerkes, Erica, Girisha, Katta M., Graul-Neumann, Luitgard, Jamsheer, Aleksander, Krawitz, Peter, Kurth, Ingo, Markus, Susanne, Megarbane, Andre, Reis, Andre, Reuter, Miriam S., Svoboda, Daniel, Teller, Christopher, Tuysuz, Beyhan, Turkmen, Seval, Wilson, Meredith, Woitschach, Rixa, Vater, Inga, Caliebe, Almuth, Hulsemann, Wiebke, Horn, Denise, Mundlos, Stefan, Spielmann, Malte
المصدر: Human Genetics
HUMAN GENETICS, 140(8), 1229-1239. SPRINGERمصطلحات موضوعية: Male, DISRUPTION, Candidate gene, Ectrodactyly, Duplication, FEATURES, Gene Expression, Expression, Ubiquitin-Activating Enzymes, Gene, Cohort Studies, Features, Genetics (clinical), Original Investigation, Genetics, Patient, Remote, Pedigree, REMOTE, Mutations, EXPRESSION, DNA Copy Number Variations, Limb Deformities, Congenital, Biology, PATIENT, DNA sequencing, ENHANCER, Genetic Heterogeneity, Genetic variation, medicine, Humans, Genetic Testing, ddc:610, Homeodomain Proteins, Base Sequence, Whole Genome Sequencing, MUTATIONS, Genetic heterogeneity, Infant, medicine.disease, GENE, DUPLICATION, Human genetics, HOXD13, Mutation, Disruption, Trinucleotide repeat expansion, Enhancer, Transcription Factors
وصف الملف: application/pdf
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المؤلفون: Wiebke Hülsemann
المصدر: Orthopädie und Unfallchirurgie up2date. 16:163-183
مصطلحات موضوعية: business.industry, Medicine, business
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المؤلفون: Ida Neergård Sletten, Mona Irene Winge, Wiebke Hülsemann, Marianne Arner, Karina Liv Hansen, Jarkko Jokihaara
المساهمون: Tampere University, Clinical Medicine, Department of Musculoskeletal Diseases
المصدر: The Journal of hand surgery, European volume. 47(10)
مصطلحات موضوعية: Upper Extremity, Hyperplasia, Humans, Reproducibility of Results, Surgery, Upper Extremity Deformities, Congenital, 3126 Surgery, anesthesiology, intensive care, radiology
وصف الملف: fulltext
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المؤلفون: Darja, Sippel, Wiebke, Hülsemann
المصدر: Handchirurgie, Mikrochirurgie, plastische Chirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Handchirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Mikrochirurgie der Peripheren Nerven und Gefasse : Organ der V.... 54(3)
مصطلحات موضوعية: Fingers, Thumb, Humans, Syndactyly, Hand, Surgical Flaps
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المؤلفون: Wiebke Hülsemann
المصدر: Handchirurgie Scan. :269-285
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المؤلفون: Fernando Santos-Simarro, Aude Annick Suter, Uwe Kornak, Wiebke Hülsemann, Rosario Ramos-Mejia, Victoria Huckstadt, Angela Abad Perez, Stefan Mundlos, Pernille Mathiesen Toerring, Manuel Parrón-Pajares, Manuel Holtgrewe, Oliver Bartsch, Karen E. Heath, Nadja Ehmke, Martin A. Mensah
المساهمون: University of Zurich, Ehmke, Nadja
المصدر: American Journal of Medical Genetics Part A
Suter, A A, Santos-Simarro, F, Toerring, P M, Abad Perez, A, Ramos-Mejia, R, Heath, K E, Huckstadt, V, Parrón-Pajares, M, Mensah, M A, Hülsemann, W, Holtgrewe, M, Mundlos, S, Kornak, U, Bartsch, O & Ehmke, N 2020, ' Variable pulmonary manifestations in Chitayat syndrome : Six additional affected individuals ', American Journal of Medical Genetics, Part A, vol. 182, no. 9, pp. 2068-2076 . https://doi.org/10.1002/ajmg.a.61735مصطلحات موضوعية: Adult, bronchomalacia, 2716 Genetics (clinical), hyperphalangism, Pediatrics, medicine.medical_specialty, Adolescent, 10039 Institute of Medical Genetics, 610 Medicine & health, Chitayat syndrome, Fingers, Young Adult, 03 medical and health sciences, 1311 Genetics, respiratory distress, Exome Sequencing, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Hallux Valgus, Respiratory system, Child, Genetics (clinical), 030304 developmental biology, CHITAYAT SYNDROME, 0303 health sciences, Pierre Robin Syndrome, biology, Respiratory distress, business.industry, 030305 genetics & heredity, Facies, medicine.disease, biology.organism_classification, Phenotype, 3. Good health, Repressor Proteins, Valgus, ERF, Child, Preschool, ulnar deviation, 570 Life sciences, Female, Ulnar deviation, Bronchomalacia, business
وصف الملف: application/pdf; ajmg.a.61735.pdf - application/pdf
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المؤلفون: Wiebke Hülsemann, Sérgio B. Sousa, Seval Türkmen, Pedro Louro, Vera M. Kalscheuer, Martin Vingron, Anna Latos-Bielenska, Marius-Konstantin Klever, Stefan Mundlos, Manuel Holtgrewe, Andreas Dufke, Björn Fischer-Zirnsak, Malte Spielmann, Fabiola Quintero-Rivera, Martin A. Mensah, Rocio Acuna-Hidalgo, Verena Heinrich, Eunice Matoso, Ilina D. Pluym, Uirá Souto Melo, Monika Cohen, Robert Schöpflin
المصدر: Am J Hum Genet
American journal of human genetics, vol 106, iss 6مصطلحات موضوعية: Developmental Disabilities, Molecular Conformation, Chromosomal translocation, ectopic enhancer-promoter interactions, Medical and Health Sciences, cytogenetics, Translocation, Genetic, Cohort Studies, Chromosome conformation capture, Chromosome Breakpoints, Segmental Duplications, Genomic, 0302 clinical medicine, Hi-C, Chromosomes, Human, Genetics (clinical), Genetics & Heredity, 0303 health sciences, Genome, SOX9 Transcription Factor, Biological Sciences, Phenotype, Segmental Duplications, chromosome conformation capture, Human, Biotechnology, medicine.medical_specialty, Translocation, Locus (genetics), Computational biology, topologically associating domains, Biology, Chromosomes, Article, 03 medical and health sciences, Genetic, neo-TAD, gene misregulation, Genetics, medicine, Humans, developmental disorders, 030304 developmental biology, Genome, Human, Human Genome, Breakpoint, Cytogenetics, Chromatin Assembly and Disassembly, Genomic, Human genome, 030217 neurology & neurosurgery, Comparative genomic hybridization
وصف الملف: application/pdf
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المؤلفون: Volker J. Schmidt, Rik Osinga, Gerhard Pierer, Marcus Lehnhardt, Wiebke Hülsemann, Dimitra Kotsougiani, Jonas Kolbenschlag, Tobias Hirsch, Dirk J. Schaefer, Ulrich Kneser
المصدر: Handchirurgie · Mikrochirurgie · Plastische Chirurgie. 51:295-301
مصطلحات موضوعية: Gynecology, 030222 orthopedics, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, medicine, Orthopedics and Sports Medicine, Surgery, Interdisciplinary communication, 030230 surgery, business, Surgery.plastic
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المؤلفون: Wiebke Hülsemann
المصدر: Orthopädie & Rheuma. 22:38-48
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, media_common.quotation_subject, medicine, Art, media_common
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المؤلفون: Wiebke Hülsemann
المصدر: Pädiatrie. 31:36-45
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, media_common.quotation_subject, medicine, Art, media_common
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المؤلفون: Denise Horn, Wiebke Hülsemann, Sarina Schwartzmann, Malte Spielmann, Manuel Holtgrewe, Stefan Mundlos, Henrike Lisa Sczakiel, Jonas Elsner, Martin A. Mensah, Angela Teresa Abad-Perez
مصطلحات موضوعية: Genetics, Terminal (electronics), Polysyndactyly, GLI3, medicine, biology.protein, Biology, medicine.disease, Protein S
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المؤلفون: Jonas Elsner, Angela Teresa Abad-Perez, Manuel Holtgrewe, Henrike Lisa Sczakiel, Martin A. Mensah, Denise Horn, Sarina Schwartzmann, Malte Spielmann, Stefan Mundlos, Wiebke Hülsemann
مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, animal structures, Genotype, genotype-phenotype correlations, Nerve Tissue Proteins, Biology, GLI3, Protein S, Zinc Finger Protein Gli3, PHS, Genetics, medicine, Humans, Genetic Predisposition to Disease, Protein Interaction Domains and Motifs, Syndactyly, GCPS, Gene, Genetics (clinical), Loss function, Alleles, Genetic Association Studies, Polydactyly, fungi, syndactyly, polydactyly, medicine.disease, Phenotype, Pedigree, Radiography, Amino Acid Substitution, Polysyndactyly, embryonic structures, Mutation, biology.protein, Female, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
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المؤلفون: Aleksander Jamsheer, Stefan Mundlos, Laure Bosquillon de Jarcy, Anna Sowińska-Seidler, Lila Allou, Meredith Wilson, Barbara Oehl-Jaschkowitz, Magdalena Socha, Idit Maya, Roger Mountford, Denise Horn, Malte Spielmann, Wiebke Hülsemann, Johannes Wagner, Fernando Santos-Simarro, Bjørt K Kragesteen, Eva Klopocki, Pablo Lapunzina, Guntram Borck, Lars Wittler, Ingo Kurth, Denis Duboule, Alan Fryer, Deepthi De Silva, Bénédicte Mascrez, Ricarda Flöttmann, Sinje Geuer
المصدر: GENETICS IN MEDICINE
مصطلحات موضوعية: 0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, Genome-wide association study, Biology, Genome, Gene dosage, Phenotype, 03 medical and health sciences, 030104 developmental biology, mental disorders, CRISPR, Copy-number variation, Enhancer, Gene, Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: Wiebke Hülsemann
المصدر: Handchirurgie Scan. :77-90
مصطلحات موضوعية: business.industry, Medicine, business
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المؤلفون: Mona I. Winge, Wiebke Hülsemann, Ida Neergård Sletten, Christianne A. van Nieuwenhoven, M. Mann
المساهمون: Plastic and Reconstructive Surgery and Hand Surgery
المصدر: Journal of Hand Surgery-European Volume, 45(10), 1112-1113. SAGE Publications Ltd
مصطلحات موضوعية: Databases, Factual, business.industry, Perspective (graphical), Humans, Medicine, Library science, Surgery, Registries, Upper Extremity Deformities, Congenital, business, Hand Deformities, Congenital
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المؤلفون: Volker J, Schmidt, Tobias, Hirsch, Rik, Osinga, Dimitra, Kotsougiani, Dirk J, Schaefer, Gerhard, Pierer, Jonas, Kolbenschlag, Wiebke, Hülsemann, Ulrich, Kneser, Marcus, Lehnhardt
المصدر: Handchirurgie, Mikrochirurgie, plastische Chirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Handchirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Mikrochirurgie der Peripheren Nerven und Gefasse : Organ der V.... 51(4)
مصطلحات موضوعية: Microsurgery, Consensus, Germany, Humans, Interdisciplinary Communication, Peripheral Nerves, Plastic Surgery Procedures, Surgery, Plastic
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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