-
1
المؤلفون: E. Almqvist, H Telenius, J Zeisler, Michael R. Hayden, Y P Goldberg, A M Gacy, J Buchanan, D Sillence, F Richards, Cynthia T. McMurray
المصدر: Human Molecular Genetics. 4:1911-1918
مصطلحات موضوعية: Male, Genetic inheritance, Molecular Sequence Data, Population, Disease, Calorimetry, Biology, Nuclear Family, Reference Values, Leukocytes, Genetics, Humans, Allele, education, Molecular Biology, Gene, Alleles, Genetics (clinical), Repetitive Sequences, Nucleic Acid, education.field_of_study, Base Sequence, DNA, General Medicine, Spermatozoa, Pedigree, Meiosis, Huntington Disease, New mutation, Mutation (genetic algorithm), Nucleic Acid Conformation, Microsatellite, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eb7ad7743854bf390c62b9d3dddf3c0Test
https://doi.org/10.1093/hmg/4.10.1911Test -
2
المؤلفون: Nicholas Katsanis, John Collinge, Elizabeth M. C. Fisher, Isik G. Yulug, Jacqueline de Belleroche
المصدر: Human Molecular Genetics. 4:1101-1104
مصطلحات موضوعية: Genetics, Base Sequence, Superoxide Dismutase, Amyotrophic Lateral Sclerosis, Molecular Sequence Data, Cu-Zn Superoxide Dismutase, SOD1, Locus (genetics), Exons, General Medicine, Biology, Gene mutation, Polymerase Chain Reaction, Cell Line, Exon, Mutation, New mutation, Humans, Amino Acid Sequence, Chromosome 21, Molecular Biology, Gene, Genetics (clinical), DNA Primers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ea84d932878cd97c20a2816aeadae93Test
https://doi.org/10.1093/hmg/4.6.1101Test -
3
المؤلفون: B. Sánchez, Chaparro P, J. C. Cabeza, Rueda T, Salud Borrego, Guillermo Antiñolo
المصدر: Human molecular genetics. 3(8)
مصطلحات موضوعية: Adult, Rhodopsin, Molecular Sequence Data, Autosomal dominant retinitis pigmentosa, Retinitis pigmentosa, Genetics, medicine, Humans, Point Mutation, Codon, Molecular Biology, Gene, Genetics (clinical), Genes, Dominant, biology, Base Sequence, Rhodopsin Gene, General Medicine, medicine.disease, Mutation (genetic algorithm), New mutation, biology.protein, Identification (biology), Retinitis Pigmentosa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b6239d6a62018a0c950c3a2f66b8cabTest
https://pubmed.ncbi.nlm.nih.gov/7987326Test -
4
المؤلفون: Masamichi Ogawa, Yutaka Igarashi, Takehiro Masumura, Noritaka Iwatani, Takashi Kamijo, Junichi Koga, Yoshikazu Nishi, Hitoshi Kohno
المصدر: Human molecular genetics. 2(7)
مصطلحات موضوعية: Male, Heterozygote, Adolescent, Molecular Sequence Data, Dwarfism, Biology, medicine.disease_cause, Compound heterozygosity, Growth hormone deficiency, Exon, Genetics, medicine, Humans, Molecular Biology, Gene, Genetics (clinical), Growth Disorders, Sequence Deletion, Mutation, Base Sequence, General Medicine, DNA, Exons, medicine.disease, Osteochondrodysplasia, Pedigree, Growth Hormone, New mutation, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be5841dcbe411d9d9a4532d72bd3e52cTest
https://pubmed.ncbi.nlm.nih.gov/8364549Test -
5
المؤلفون: J. Begueret, P. Blouin, N. Carrere, A. Cheyrou, R.M. Leblanc
المصدر: Human Molecular Genetics. 2:1075-1075
مصطلحات موضوعية: Tumor suppressor gene, DNA Mutational Analysis, Molecular Sequence Data, Mammary gland, Breast Neoplasms, Biology, Exon, Breast cancer, Genetics, medicine, Humans, Point Mutation, Molecular Biology, Gene, Genetics (clinical), Base Sequence, DNA, Neoplasm, Exons, General Medicine, Genes, p53, medicine.disease, medicine.anatomical_structure, New mutation, Mutation (genetic algorithm), Cancer research, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e79268ea9c6fffa3ca69d9e29e12e5f7Test
https://doi.org/10.1093/hmg/2.7.1075Test