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1
المؤلفون: Stefan, Krüger, Andrea, Bier, Jens, Plaschke, Ruth, Höhl, Daniela E, Aust, Friedmar R, Kreuz, Steffen R, Pistorius, Hans D, Saeger, Veit, Rothhammer, Oliver, Al-Taie, Hans K, Schackert
المصدر: Human mutation. 24(4)
مصطلحات موضوعية: Adult, Male, Base Pair Mismatch, Nuclear Proteins, Middle Aged, Colorectal Neoplasms, Hereditary Nonpolyposis, Neoplasm Proteins, DNA-Binding Proteins, Mutagenesis, Insertional, MutS Homolog 2 Protein, Codon, Nonsense, Germany, Proto-Oncogene Proteins, Humans, Female, RNA Splice Sites, Carrier Proteins, Frameshift Mutation, MutL Protein Homolog 1, Alleles, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Aged, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::fc828eff998fedee08ee9e363944af3eTest
https://pubmed.ncbi.nlm.nih.gov/15365996Test -
2
المؤلفون: Jens, Plaschke, Stefan, Krüger, Wolfgang, Dietmaier, Johannes, Gebert, Christian, Sutter, Elisabeth, Mangold, Constanze, Pagenstecher, Elke, Holinski-Feder, Karsten, Schulmann, Gabriela, Möslein, Josef, Rüschoff, Christoph, Engel, Gareth, Evans, Hans K, Schackert
المصدر: Human mutation. 23(3)
مصطلحات موضوعية: Adult, DNA-Binding Proteins, Gene Expression Regulation, Neoplastic, Male, DNA Repair, Base Pair Mismatch, Humans, Female, Middle Aged, Colorectal Neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis, Germ-Line Mutation, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::026a7621eeb8e6d73be16f6d035670e3Test
https://pubmed.ncbi.nlm.nih.gov/14974087Test -
3
المؤلفون: Wera, Hofmann, Heike, Görgens, Anika, John, Denise, Horn, Christine, Hüttner, Norbert, Arnold, Siegfried, Scherneck, Hans K, Schackert
المصدر: Human mutation. 22(1)
مصطلحات موضوعية: Adult, Gene Rearrangement, Male, Ovarian Neoplasms, BRCA1 Protein, Genes, BRCA1, Breast Neoplasms, DNA, Neoplasm, Middle Aged, Polymerase Chain Reaction, Sensitivity and Specificity, Gene Frequency, Germany, Humans, Family, Female, Genetic Testing, Lymphocytes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::c1f075a01cb0c8dea1730c720cc58efcTest
https://pubmed.ncbi.nlm.nih.gov/12815601Test -
4
المؤلفون: Stefan, Krüger, Jens, Plaschke, Birgit, Jeske, Heike, Görgens, Steffen R, Pistorius, Andrea, Bier, Friedmar R, Kreuz, Franz, Theissig, Daniela E, Aust, Hans D, Saeger, Hans K, Schackert
المصدر: Human mutation. 21(4)
مصطلحات موضوعية: Male, Nuclear Proteins, Middle Aged, Colorectal Neoplasms, Hereditary Nonpolyposis, Neoplasm Proteins, DNA-Binding Proteins, MutS Homolog 2 Protein, Proto-Oncogene Proteins, Humans, Female, Carrier Proteins, MutL Protein Homolog 1, Germ-Line Mutation, Adaptor Proteins, Signal Transducing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::aeb9a2a26e86b969c6743d1112f9c7a7Test
https://pubmed.ncbi.nlm.nih.gov/12655562Test -
5
المؤلفون: Stefan, Krüger, Jens, Plaschke, Steffen, Pistorius, Birgit, Jeske, Stephan, Haas, Heike, Krämer, Irene, Hinterseher, Andrea, Bier, Friedmar R, Kreuz, Franz, Theissig, Hans D, Saeger, Hans K, Schackert
المصدر: Human mutation. 19(1)
مصطلحات موضوعية: Adult, Male, DNA Mutational Analysis, Nuclear Proteins, DNA, Neoplasm, Middle Aged, Colorectal Neoplasms, Hereditary Nonpolyposis, Neoplasm Proteins, DNA-Binding Proteins, MutS Homolog 2 Protein, Proto-Oncogene Proteins, Humans, Female, Age of Onset, Carrier Proteins, MutL Protein Homolog 1, Omentum, Germ-Line Mutation, Peritoneal Neoplasms, Adaptor Proteins, Signal Transducing, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::4e39cd14a59af1ab4ad89a79fb7eb18dTest
https://pubmed.ncbi.nlm.nih.gov/11754112Test -
6
المؤلفون: Ruth Höhl, Stefan Krüger, Jens Plaschke, Friedmar Kreuz, Daniela Aust, Andrea Bier, Oliver Al-Taie, Hans Detlev Saeger, Veit Rothhammer, Steffen Pistorius, Hans K. Schackert
المصدر: Human Mutation. 24:351-352
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Amsterdam criteria, nutritional and metabolic diseases, Biology, medicine.disease_cause, MLH1, Molecular biology, digestive system diseases, Stop codon, Frameshift mutation, Germline mutation, MSH2, medicine, Missense mutation, neoplasms, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::27443b0f155afaaf87b9b20f9ee395c2Test
https://doi.org/10.1002/humu.9278Test -
7
المؤلفون: Heike Görgens, Siegfried Scherneck, Christine Hüttner, Anika L. John, Hans K. Schackert, Denise Horn, Norbert Arnold, W. Hofmann
المصدر: Human Mutation. 22:103-104
مصطلحات موضوعية: Genetics, endocrine system diseases, Biology, medicine.disease, Germline, Exon, Breast cancer, Germline mutation, Gene duplication, Multiplex polymerase chain reaction, medicine, Coding region, skin and connective tissue diseases, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6ded2f81707fed15ef3e1e03ac285fa7Test
https://doi.org/10.1002/humu.9154Test -
8
المؤلفون: Jens Plaschke, Steffen Pistorius, Theissig F, Friedmar Kreuz, Heike Görgens, Andrea Bier, Stefan Krüger, Birgit Jeske, Hans K. Schackert, Daniela Aust, Hans Detlev Saeger
المصدر: Human Mutation. 21:445-446
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Splice site mutation, Nonsense mutation, nutritional and metabolic diseases, Biology, medicine.disease_cause, MLH1, Molecular biology, digestive system diseases, Germline mutation, MSH2, medicine, PMS2, Missense mutation, neoplasms, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a98340e291f89f7ccbdedb47e40fc932Test
https://doi.org/10.1002/humu.9121Test -
9
المؤلفون: Elke Holinski-Feder, Stefan Krüger, Elisabeth Mangold, Christian Sutter, Jens Plaschke, Gabriela Möslein, Constanze Pagenstecher, Wolfgang Dietmaier, Karsten Schulmann, Hans K. Schackert, Christoph Engel, Johannes Gebert, Gareth Evans, Josef Rüschoff
المصدر: Human Mutation. 23:285-285
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Nonsense mutation, nutritional and metabolic diseases, Gene mutation, Biology, MLH1, Penetrance, digestive system diseases, Germline, MSH6, Germline mutation, MSH2, Cancer research, neoplasms, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3741e9711fc615e8ce2adf2eae7bda79Test
https://doi.org/10.1002/humu.9217Test -
10
المؤلفون: Andreas Ziegler, Hans K. Schackert, Guido Fitze, Dietmar Roesner, Matthias Schreiber, Eberhard Kuhlisch, Mandy Schierz
المصدر: Human Mutation. 22:177-177
مصطلحات موضوعية: Male, endocrine system diseases, Multiple endocrine neoplasia type 2, Biology, RET proto-oncogene, Proto-Oncogene Mas, Germline mutation, Proto-Oncogene Proteins, Genotype, Genetics, medicine, Humans, Hirschsprung Disease, Allele frequency, Genetics (clinical), Polymorphism, Genetic, Proto-Oncogene Proteins c-ret, Haplotype, Receptor Protein-Tyrosine Kinases, medicine.disease, Phenotype, Introns, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6195e8d18cd447988d46f7d2cec45a6fTest
https://doi.org/10.1002/humu.9161Test