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1
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 -
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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 -
3
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 -
4
المؤلفون: Irene Hinterseher, Heike Krämer, Hans K. Schackert, Birgit Jeske, Stephan Haas, Jens Plaschke, Hans Detlev Saeger, Steffen Pistorius, Andrea Bier, Stefan Krüger, Theissig F, Friedmar Kreuz
المصدر: Human Mutation. 19:82-82
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Amsterdam criteria, Nonsense mutation, nutritional and metabolic diseases, Microsatellite instability, Biology, MLH1, medicine.disease, digestive system diseases, Stop codon, Germline mutation, MSH2, medicine, Missense mutation, neoplasms, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c40ff53cb8c46a15d7e1f9a9a3d3da60Test
https://doi.org/10.1002/humu.9004Test