-
1
المؤلفون: Michaela Kuhlen, Julia Taeubner, Triantafyllia Brozou, Arndt Borkhardt, Reiner Siebert, Dagmar Wieczorek
المصدر: Oncogene
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, medicine.medical_specialty, Review Article, Biology, Germline, Paediatric cancer, 03 medical and health sciences, 0302 clinical medicine, Neoplasms, Genetics, medicine, Humans, Inheritance Patterns, Family, Genetic Predisposition to Disease, Child, Indel, Molecular Biology, Gene, Germ-Line Mutation, Preventive healthcare, BRCA1 Protein, Medical genetics, Inheritance (genetic algorithm), High-Throughput Nucleotide Sequencing, Cancer, medicine.disease, 030104 developmental biology, 030220 oncology & carcinogenesis, Tumor Suppressor Protein p53, Family based
-
2
المؤلفون: Michaela Kuhlen, Julia Taeubner, Triantafyllia Brozou, Layal Yasin, Rabea Wagener, Martin Dugas, Christoph Bartenhagen, Ute Fischer, Andishe Attarbaschi, Julia Hauer, Arndt Borkhardt, Deya Alzoubi, Carl Friedrich Classen, Udo Kontny, Carolin Walter
المصدر: European Journal of Human Genetics
European journal of human genetics 29(8), 1301-1311 (2021). doi:10.1038/s41431-021-00878-xمصطلحات موضوعية: Oncology, Male, medicine.medical_specialty, Adolescent, Childhood cancer, Germline, Article, Paediatric cancer, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Neoplasms, Exome Sequencing, Genetics, Genetic predisposition, medicine, Inheritance Patterns, Humans, Genetic Testing, ddc:610, Child, Cancer genetics, Genetics (clinical), Oncogenesis, Germ-Line Mutation, 030304 developmental biology, 0303 health sciences, Clinical screening, business.industry, Cancer, medicine.disease, Phenotype, 030220 oncology & carcinogenesis, Cohort, Female, business, Clinical evaluation
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69dc0b5a1ec2cc03ab347cd4e2ffb83c
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/86409 -
3
المؤلفون: Triantafyllia Brozou, Olivier Lascols, Michaela Kuhlen, Chrystelle Colas, Julia Taeubner, Christine Fauth, Jessica I. Hoell, Katharina Wimmer, Joerg Felsberg, Jasmin C. Riemer, Sebastian Ginzel, Arndt Borkhardt, Martine Muleris, Michael Gombert
المساهمون: Department of Medical Genetics, Medical University of Vienna, Vienna, Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER, Division of Clinical Genetics, Department of Medical Genetics, Molecular and and Clinical Pharmacology, Innsbruck Medical University [Austria] (IMU), Clinic of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health, Heinrich-Heine-University
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (3), pp.440-444. ⟨10.1038/s41431-017-0071-5⟩مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, [SDV]Life Sciences [q-bio], education, Brief Communication, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Cell Line, Tumor, Genetics, Humans, Medicine, Genetic Testing, Cerebellar Neoplasms, Cells, Cultured, Genetics (clinical), business.industry, Desmoplastic medulloblastoma, Homozygote, Infant, Microsatellite instability, medicine.disease, Phenotype, 3. Good health, DNA-Binding Proteins, MSH6, MutS Homolog 2 Protein, 030104 developmental biology, MSH2, 030220 oncology & carcinogenesis, Immunohistochemistry, Female, DNA mismatch repair, business, Medulloblastoma
-
4
المؤلفون: Julia Taeubner, Nan Qin, Triantafyllia Brozou, Michaela Kuhlen, Joerg Felsberg, Simone Fulda, Joerg Schaper, Arndt Borkhardt, Sebastian Ginzel, Christian Vokuhl, Jasmin Bartl
المصدر: European Journal of Human Genetics. 26:137-142
مصطلحات موضوعية: Male, 0301 basic medicine, Brief Communication, medicine.disease_cause, Patched-2 Receptor, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Genetics, medicine, Humans, Rhabdomyosarcoma, Embryonal, Sonic hedgehog, Rhabdomyosarcoma, Germ-Line Mutation, Genetics (clinical), Mutation, biology, Infant, Newborn, medicine.disease, Patched-1 Receptor, PTCH2, 030104 developmental biology, 030220 oncology & carcinogenesis, Cancer research, biology.protein, Embryonal rhabdomyosarcoma, Carcinogenesis
-
5
المؤلفون: Martin Dugas, Julia Taeubner, Michaela Kuhlen, Eunike Velleuer, Dagmar Wieczorek, Arndt Borkhardt, Triantafyllia Brozou
المصدر: European Journal of Pediatrics
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Cancer predisposition syndrome, medicine, Genetic predisposition, Family history, Prospective cohort study, Children, Exome sequencing, Genetic testing, medicine.diagnostic_test, business.industry, Cancer predisposition, Cancer, medicine.disease, 030104 developmental biology, Trio, 030220 oncology & carcinogenesis, Whole-exome sequencing, Pediatrics, Perinatology and Child Health, Original Article, business
-
6
المؤلفون: Triantafyllia Brozou, Layal Yasin, Michaela Kuhlen, Julia Taeubner, Dagmar Wieczorek, Arndt Borkhardt
المصدر: Trends in cancer. 4(11)
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Cancer-Predisposing Gene, Genetic counseling, Penetrance, Disease, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Neoplasms, Medicine, Humans, Genetic Predisposition to Disease, Expressivity (genetics), Genetics, business.industry, Cancer, Genetic Variation, Syndrome, medicine.disease, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Healthy individuals, Cancer development, business
-
7
المؤلفون: Michaela Kuhlen, Dagmar Wieczorek, Arndt Borkhardt, Julia Taeubner
المصدر: Molecular and Cellular Pediatrics
مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Short Communication, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Hypodiploid leukemia, 030225 pediatrics, Internal medicine, mental disorders, Intellectual disability, medicine, Li-Fraumeni syndrome, Autism spectrum disorder, Family history, Bone pain, Psychiatry, Sanger sequencing, business.industry, Cancer, medicine.disease, 030104 developmental biology, Li–Fraumeni syndrome, symbols, Autism, medicine.symptom, business