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1
المؤلفون: Insa Koné, Bettina M. Zimmermann, Karl Heinimann, Laura Knabben, Bernice Simone Elger, David Shaw
المساهمون: Metamedica, RS: CAPHRI - R4 - Health Inequities and Societal Participation
المصدر: Eur J Hum Genet
European Journal of Human Genetics, 28(8), 1010-1019. Nature Publishing Groupمصطلحات موضوعية: Adult, Male, EUROPE, Patients, Process (engineering), media_common.quotation_subject, Genetic counseling, Decision Making, Legislation, COMMUNICATION, Grounded theory, FAMILIES, Article, COLORECTAL-CANCER, LEGISLATION, HEREDITARY BREAST-CANCER, Neoplasms, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Decision-making, Genetics (clinical), media_common, Genetic testing, RISK, medicine.diagnostic_test, BARRIERS, Certainty, Middle Aged, Grounded Theory, Female, Psychology, Psychosocial, ETHICS, Cognitive psychology
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2
المؤلفون: Karl Heinimann, Ian Tomlinson, Rui Henrique, Helena Baldaia, Fátima Carneiro, Michal Kovac, Ana Peixoto, Manuela Pinheiro, Manuel R. Teixeira, Paula Lopes, Isabel Veiga, Raquel Seruca, Carla M. A. Pinto
المصدر: British Journal of Cancer
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Adolescent, Carcinogenesis, Activin Receptors, Type II, Protein Serine-Threonine Kinases, Biology, Bone Morphogenetic Protein Receptors, Type II, Genetics & Genomics, MLH1, Young Adult, Germline mutation, medicine, Humans, neoplasms, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Aged, Genetics, Receptor, Transforming Growth Factor-beta Type II, Nuclear Proteins, nutritional and metabolic diseases, Microsatellite instability, Middle Aged, 16. Peace & justice, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, target genes, digestive system diseases, Lynch syndrome, 3. Good health, DNA-Binding Proteins, MSH6, MutS Homolog 2 Protein, Oncology, MSH3, MSH2, MutS Homolog 3 Protein, Female, microsatellite instability, DNA mismatch repair, Colorectal Neoplasms, MutL Protein Homolog 1, Receptors, Transforming Growth Factor beta
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3
المؤلفون: Dirk Fischer, Nina Bechtel, Karl Heinimann, Jacques Schneider, Stephan Frank, Peter Weber, Erich Rutz, Ulrike Bonati
المصدر: Neuromuscular Disorders. 24:529-532
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Mutation, Missense, Nerve Fibers, Myelinated, Muscular Dystrophies, White matter, LMNA, medicine, Humans, Gene, Genetics (clinical), Genetics, business.industry, Brain, Lamin Type A, medicine.disease, Phenotype, Hyperintensity, Hypotonia, medicine.anatomical_structure, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, Muscle Hypotonia, Female, Neurology (clinical), medicine.symptom, Cognition Disorders, business, Head, Novel mutation
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4
المؤلفون: Katharina Wimmer, Johannes Zschocke, Noemie Staehli, Salvatore Girlando, Ludwine Messiaen, Emanuele Valtorta, Franco Armelao, Giancarlo Marra, Annekatrin Wernstedt, Karl Heinimann, Roberto Togni, Michael Baudis
المصدر: Genes, Chromosomes & Cancer
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Pseudogene, Biology, Polymerase Chain Reaction, 03 medical and health sciences, Exon, 0302 clinical medicine, Germline mutation, Genetics, Humans, Multiplex, Multiplex ligation-dependent probe amplification, Allele, Alleles, Research Articles, Aged, Mismatch Repair Endonuclease PMS2, Neoplasm Staging, 030304 developmental biology, Adenosine Triphosphatases, Aged, 80 and over, Recombination, Genetic, 0303 health sciences, Breakpoint, Intron, DNA, Neoplasm, Middle Aged, digestive system diseases, DNA-Binding Proteins, DNA Repair Enzymes, 030220 oncology & carcinogenesis, Mutation, Female, Colorectal Neoplasms, Nucleic Acid Amplification Techniques, Gene Deletion, Pseudogenes
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5
المؤلفون: Andreas R. Huber, Benno Röthlisberger, Isabel Filges, Karl Heinimann, Friedel Wenzel, Peter Miny
المصدر: American Journal of Medical Genetics Part A. :2837-2841
مصطلحات موضوعية: Genetics, Comparative Genomic Hybridization, Partial Trisomy, Mosaicism, Ring chromosome, Infant, Mosaic (geodemography), Biology, Aneuploidy, Craniofacial Abnormalities, Humans, Abnormalities, Multiple, Female, Ring Chromosomes, Genetics (clinical), Chromosomes, Human, Pair 8
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6
المؤلفون: Stefan Aretz, Judith Luz, Thomas Guenther, Karl Heinimann, K Neale, Gavin Kelly, Ian Tomlinson, Stefania Segditsas, Andrew Rowan, Ian M. Frayling, Kimberley Howarth, Oliver M. Sieber, Emmanouil Volikos, Pierre Hutter, Jian Zhang, Andrew Silver, Robin K. S. Phillips, Sarah L. Spain, Malcolm G. Dunlop, Anne Lyster Knudsen, James P. Robinson, Christina Thirlwell, Emma Jaeger
المصدر: Gut. 55:1440-1448
مصطلحات موضوعية: Adult, Male, Adenomatous polyposis coli, Adenomatous Polyposis Coli Protein, DNA Mutational Analysis, Loss of Heterozygosity, medicine.disease_cause, Polymorphism, Single Nucleotide, Germline, Loss of heterozygosity, Germline mutation, medicine, Humans, Allele, Germ-Line Mutation, Aged, Colorectal Cancer, Genetics, Mutation, biology, Gastroenterology, Exons, Middle Aged, medicine.disease, Phenotype, Adenomatous Polyposis Coli, Attenuated familial adenomatous polyposis, biology.protein, Female, Carcinogenesis
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7
المؤلفون: Päivi Peltomäki, Karl Heinimann, Jian Zhang, Hansjakob Mueller, Anna Russell, Annette Lindroos, Saara Ollila, Martina Plasilova, Giancarlo Marra
المصدر: Cancer Research. 66:659-664
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Mitotic crossover, DNA Mutational Analysis, Gene Conversion, Gene Dosage, Loss of Heterozygosity, Biology, medicine.disease_cause, MLH1, Loss of heterozygosity, Germline mutation, medicine, Humans, Genetic Predisposition to Disease, neoplasms, Finland, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Aged, Genetics, Gene Expression Profiling, Nuclear Proteins, nutritional and metabolic diseases, Cancer, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Cell Transformation, Neoplastic, MutS Homolog 2 Protein, Oncology, MSH2, Cancer research, Female, DNA mismatch repair, Carrier Proteins, MutL Protein Homolog 1, Carcinogenesis, Gene Deletion, Switzerland, Microsatellite Repeats
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1964d30c3eccf8fd760b7d0b233c571d
https://doi.org/10.1158/0008-5472.can-05-4043 -
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المؤلفون: Jian Zhang, Martina Plasilova, Giancarlo Marra, Karl Heinimann, Markus Mettler, Hansjakob Mueller, Roberta Okhowat
المصدر: Genes, Chromosomes and Cancer. 45:1106-1110
مصطلحات موضوعية: Adult, Male, Cancer Research, Colorectal cancer, Germline mosaicism, Adenocarcinoma, Biology, Gene mutation, MLH1, Germline mutation, Genetics, medicine, Humans, Family, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Nuclear Proteins, Middle Aged, medicine.disease, medicine.anatomical_structure, MSH2, Female, DNA mismatch repair, Carrier Proteins, Colorectal Neoplasms, MutL Protein Homolog 1, Germ cell
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9
المؤلفون: A Ghosh, S A Buechner, Hj Mueller, P Pal, M Plasilova, Karl Heinimann, N A Schaub, P Miny, C Chattopadhyay
المصدر: Journal of Medical Genetics. 41:609-614
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genetic Linkage, DNA Mutational Analysis, Mutation, Missense, India, Loss of Heterozygosity, Genes, Recessive, Biology, Progeroid syndromes, LMNA, Progeria, Genetics, medicine, Humans, Missense mutation, Child, Genetics (clinical), Werner syndrome, integumentary system, Genetic Carrier Screening, Genetic disorder, nutritional and metabolic diseases, Aging, Premature, Lamin Type A, medicine.disease, Pedigree, Mandibuloacral dysplasia, Child, Preschool, Female, Letter to JMG, Lamin
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10
المؤلفون: M Plasilova, A Wanner, Karl Heinimann, Angela Wolf, Z Dobbie, A M Russell, Müller H
المصدر: European Journal of Human Genetics. 12:365-371
مصطلحات موضوعية: Adult, Male, Candidate gene, Genotype, Genetic Linkage, Penetrance, Locus (genetics), Biology, DNA Glycosylases, Familial adenomatous polyposis, Germline mutation, Gene mapping, MUTYH, Genetic linkage, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), Aged, Family Health, Models, Genetic, Genetic heterogeneity, Age Factors, Chromosome Mapping, Middle Aged, medicine.disease, Pedigree, Phenotype, Adenomatous Polyposis Coli, Chromosomes, Human, Pair 1, Mutation, Female, Lod Score, Switzerland, Microsatellite Repeats