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المؤلفون: Gundula Thiel, Ute Hehr, Rabih Chaoui, Tanja Roedl, Sophie Hinreiner, Dagmar Wieczorek, Ute Grasshoff, Dietmar Mueller
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 178:198-205
مصطلحات موضوعية: Male, 0301 basic medicine, Nerve Tissue Proteins, 030105 genetics & heredity, Biology, medicine.disease_cause, DNA sequencing, 03 medical and health sciences, symbols.namesake, Holoprosencephaly, Pregnancy, Germany, Prenatal Diagnosis, Genetics, medicine, Humans, Microphthalmos, Hedgehog Proteins, Genetic Testing, Multiplex ligation-dependent probe amplification, Eye Proteins, Genetics (clinical), Genetic testing, Homeodomain Proteins, Sanger sequencing, Mutation, medicine.diagnostic_test, Brain, Facies, High-Throughput Nucleotide Sequencing, Nuclear Proteins, medicine.disease, Penetrance, Pedigree, Developmental disorder, Branchial Region, 030104 developmental biology, Chromosomes, Human, Pair 1, symbols, Female, Chromosome Deletion, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e48883890158bdaa8faf415ba262951b
https://doi.org/10.1002/ajmg.c.31625 -
2
المصدر: BMJ Case Rep
مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, medicine.medical_treatment, Oropharynx, 030105 genetics & heredity, Conservative Treatment, Left sided, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Surgical emphysema, Tonsillectomy, business.industry, Tonsillar bed, General Medicine, Emergency department, Dysphagia, Subcutaneous Emphysema, Surgery, Tonsillar fossa, Female, medicine.symptom, business, Complication, Tomography, X-Ray Computed, 030217 neurology & neurosurgery, Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect
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المؤلفون: Eamonn Sheridan, Alfredo Orrico, Ivan Ivanovski, Saskia Biskup, Alexej Knaus, Marzena Wiśniewska, Anna Keryan, Bernd Wollnik, Gundula Thiel, Gorazd Rudolf, Max Zhao, Malte Spielmann, Yaron Gurovich, Sandra Wilson, Uwe Kornak, Pola Smirin-Yosef, Yair Hanani, Christina Fagerberg, Christian Thiel, Peter N. Robinson, Diana Mitter, Annick Raas-Rothschild, Gholson J. Lyon, Na Zhu, Dagmar Wahl, Nechama Haddad, Claus-Eric Ott, Antonio Martinez Carrascal, Janelle Howell, Nadja Ehmke, Irena Vrecar, Purificación Marín Reina, Oleg V. Borisov, Konstanze Hoertnagel, Denise Horn, Nurulhuda Hajjir, Sabine Rudnik, Sebastian Köhler, Marie Coutelier, Nicole Revencu, Ingrid Weber, Stanislav Rosnev, Johannes Zschocke, Claudia Ciaccio, Or Shanoon, Nicole Fleischer, Anna Schossig, Luitgard Graul-Neumann, Guy Nadav, Dione Aguilar, Susanne B. Kamphausen, Markus M. Nöthen, Allan Bayat, Borut Peterlin, Heidi Beate Bentzen, Øivind Braaten, Eun Kyung Suk, Magdalena Danyel, Ming W. Yeung, Catherine Karimov, Angela M. Kaindl, Luis Becerra-Solano, Tzung-Chien Hsieh, Svenja Daschkey, Laura Morlan Herrador, Christine Fauth, Stefan Mundlos, Ulrich A. Schatz, Jean Tori Pantel, Alain Verloes, Heinz Gabriel, Kirsten Cremer, Alexander Lavrov, Karen W. Gripp, Martin A. Mensah, Kristen Park, Yves Sznajer, Jakob Hertzberg, Korina Winter, Max Schubach, Sofia Douzgou, Peter Krawitz, Hadil Kathom, Linda M. Randolph, Björn Fischer-Zirnsak, Maximilian Leitheiser, Tom Kamphans, Asya Gusina, Omri Bar, Hilda David Eden, Koenraad Devriendt, Dejan Đukić, Elisabeth Mangold, Laura Pölsler
المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL
المصدر: GENETICS IN MEDICINE
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Hsieh, T C, Mensah, M A, Pantel, J T, Aguilar, D, Bar, O, Bayat, A, Becerra-Solano, L, Bentzen, H B, Biskup, S, Borisov, O, Braaten, O, Ciaccio, C, Coutelier, M, Cremer, K, Danyel, M, Daschkey, S, Eden, H D, Devriendt, K, Wilson, S, Douzgou, S, Đukić, D, Ehmke, N, Fauth, C, Fischer-Zirnsak, B, Fleischer, N, Gabriel, H, Graul-Neumann, L, Gripp, K W, Gurovich, Y, Gusina, A, Haddad, N, Hajjir, N, Hanani, Y, Hertzberg, J, Hoertnagel, K, Howell, J, Ivanovski, I, Kaindl, A, Kamphans, T, Kamphausen, S, Karimov, C, Kathom, H, Keryan, A, Knaus, A, Köhler, S, Kornak, U, Lavrov, A, Leitheiser, M, Lyon, G J, Fagerberg, C R, Robinson, P N, Rosnev, S, Rudnik, S, Rudolf, G, Schatz, U, Schossig, A, Schubach, M, Shanoon, O, Sheridan, E, Smirin-Yosef, P & Spielmann, M 2019, ' PEDIA : prioritization of exome data by image analysis ', Genetics in Medicine, vol. 21, no. 12, pp. 2807-2814 . https://doi.org/10.1038/s41436-019-0566-2
Genetics in medicine, Vol. 21, no.12, p. 2807-2814 (2019)
Genetics in Medicineمصطلحات موضوعية: Male, 0301 basic medicine, Computer science, 030105 genetics & heredity, computer.software_genre, computer vision, Databases, Genetic, Image Processing, Computer-Assisted, Exome, Genetics (clinical), Exome sequencing, variant prioritization, 0303 health sciences, 030305 genetics & heredity, dysmorphology, Genomics, 3. Good health, Phenotype, Cohort, Medical genetics, Female, exome diagnostics, Algorithms, Natural language processing, deep learning, Prioritization, medicine.medical_specialty, Article, Image (mathematics), 03 medical and health sciences, Similarity (network science), Similarity (psychology), medicine, Humans, Gene, 030304 developmental biology, business.industry, Deep learning, Computational Biology, Sequence Analysis, DNA, 030104 developmental biology, Artificial intelligence, business, computer, Software
وصف الملف: application/pdf; Print-Electronic
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المؤلفون: Gundula Thiel, Nadtaya Mills, Robert Mills
المصدر: The Laryngoscope. 123:2245-2249
مصطلحات موضوعية: medicine.medical_specialty, Myringoplasty, Otorhinolaryngology, business.industry, Treatment outcome, Significant difference, Perforation (oil well), medicine, Outcome measures, In patient, business, Surgery, Tympanic Membrane Perforation
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المؤلفون: Gundula Thiel, Paul Joice, Mary-Louise Montague
المصدر: Clinical Case Reports and Reviews. 2
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, medicine, General Medicine, General Chemistry, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::150eb728f654e27eedac2b0e1498968c
https://doi.org/10.15761/ccrr.1000270 -
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المؤلفون: W. Andrew Clement, Haytham Kubba, Gundula Thiel
المصدر: International Journal of Pediatric Otorhinolaryngology. 75:1525-1528
مصطلحات موضوعية: Male, Reoperation, medicine.medical_specialty, Conservative management, Congenital Abnormalities, Laryngotracheal cleft, medicine, Humans, Respiratory sounds, Child, Retrospective Studies, Lower grade, Laryngoscopy, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, General Medicine, Laryngeal cleft, Surgery, Otorhinolaryngology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Case note, Larynx, Presentation (obstetrics), medicine.symptom, business, Laryngeal disease
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المؤلفون: Gundula Thiel, Olga Blau, Igor Wolfgang Blau, Thomas Burmeister, Seval Türkmen, Annette Sindram, Stefan Mundlos, Eckhard Thiel, Claudia D. Baldus, Florian Nolte, Wolf-Karsten Hofmann, Mara Molkentin, Ulrich Keilholz, Ouidad Benlasfer, Elke Schümann
المصدر: Blood. 118:5583-5592
مصطلحات موضوعية: Adult, Male, NPM1, Pathology, medicine.medical_specialty, Myeloid, Immunology, Abnormal Karyotype, Biology, Biochemistry, Young Adult, hemic and lymphatic diseases, medicine, Humans, Aged, Aged, 80 and over, Chromosome Aberrations, Myeloid Neoplasia, Chromosomes, Human, Pair 11, Myelodysplastic syndromes, Mesenchymal stem cell, Nuclear Proteins, Myeloid leukemia, Mesenchymal Stem Cells, Cell Biology, Hematology, Middle Aged, Hematopoietic Stem Cells, medicine.disease, Leukemia, Myeloid, Acute, Leukemia, Cell Transformation, Neoplastic, medicine.anatomical_structure, fms-Like Tyrosine Kinase 3, Myelodysplastic Syndromes, Fms-Like Tyrosine Kinase 3, Chromosome abnormality, Female, Chromosomes, Human, Pair 19, Nucleophosmin
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3baec786f58fe96c62df3179f162cbdb
https://doi.org/10.1182/blood-2011-03-343467 -
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المؤلفون: Gundula Thiel, Claudia D. Baldus, Elke Schümann, Verena Serbent, Wolf-Karsten Hofmann, Eckhard Thiel, Olga Blau, Igor Wolfgang Blau
المصدر: Experimental Hematology. 35:221-229
مصطلحات موضوعية: Adult, Male, Cancer Research, Pathology, medicine.medical_specialty, Myeloid, Acute myeloblastic leukemia, Bone Marrow Cells, Biology, hemic and lymphatic diseases, Genetics, medicine, Humans, Prospective Studies, Molecular Biology, In Situ Hybridization, Fluorescence, Aged, Aged, 80 and over, Chromosome Aberrations, Myelodysplastic syndromes, Myeloid leukemia, Mesenchymal Stem Cells, Karyotype, Cell Biology, Hematology, Middle Aged, medicine.disease, Leukemia, Myeloid, Acute, Leukemia, Haematopoiesis, Phenotype, medicine.anatomical_structure, Karyotyping, Myelodysplastic Syndromes, Cytogenetic Analysis, Chromosomes, Human, Pair 5, Female, Bone marrow, Stromal Cells, Chromosomes, Human, Pair 7
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المؤلفون: Orhan Sezer, Gundula Thiel, Anke Thomas, Sherko Kümmel, Thomas Fischer, Werner Lichtenegger, Manfred Dietel, Jens Uwe Blohmer
المصدر: Breast Care. 1:324-327
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Oncology, business.industry, Peripheral Primitive Neuroectodermal Tumor, Peripheral neuroectodermal tumor, Medicine, Soft tissue, Surgery, Young adult, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::14d62ff36ed99ecf7ea7022815b54d3c
https://doi.org/10.1159/000095506 -
10كتاب إلكتروني
المؤلفون: Regine Witkowski, Otto Prokop, Eva Ullrich, Gundula Thiel
نوع المادة: eBook.
الموضوعات: Biochemistry, Family medicine, Gynecology, Medical genetics, Pediatrics
تصنيفات: SCIENCE / Life Sciences / Biochemistry, MEDICAL / Family & General Practice, MEDICAL / Gynecology & Obstetrics, MEDICAL / Pediatrics, MEDICAL / Genetics