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المؤلفون: Karl Heinimann, Sevgi Tercanli, Ekaterina Nosova, Cheryl Y. Gregory-Evans, William T. Gibson, Peter Miny, Jan M. Friedman, Isabel Filges, Elisabeth Bruder, Judith G. Hall, Wyeth W. Wasserman, Benno Röthlisberger, Katelin N. Townsend
المصدر: Clinical Genetics. 86:220-228
مصطلحات موضوعية: Genetics, 0303 health sciences, Candidate gene, Microcephaly, Massive parallel sequencing, Cilium, Biology, medicine.disease, Phenotype, 3. Good health, 03 medical and health sciences, Ciliopathy, 0302 clinical medicine, Cancer research, medicine, Allele, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing, 030304 developmental biology
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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