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1
المؤلفون: Ertan Mayatepek, Johannes Zschocke, Rosa Aledo, Juan Pié, Fausto G. Hegardt, Sonja Fiesel, Cecilia Mir, Núria Casals, Georg F. Hoffmann
المصدر: Human Genetics. 109:19-23
مصطلحات موضوعية: Hydroxymethylglutaryl-CoA Synthase, Male, DNA, Complementary, Auxotrophy, DNA Mutational Analysis, Mutant, Mutation, Missense, Gene Expression, Genes, Recessive, CHO Cells, In Vitro Techniques, Biology, Cricetinae, Complementary DNA, Genetics, Animals, Humans, Missense mutation, Coding region, Gene, Genetics (clinical), DNA Primers, Base Sequence, Infant, Molecular biology, Molecular medicine, Human genetics, Mitochondria, Mutagenesis, Site-Directed, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::258920404ab2d09a7829348e8d7542d4Test
https://doi.org/10.1007/s004390100554Test -
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المؤلفون: Carmelann Zintz, Jeffrey A. Towbin, Lois Brandon, Neil E. Bowles, Karla R. Bowles, S.E. Abraham
المصدر: Human Genetics. 105:582-586
مصطلحات موضوعية: Cardiomyopathy, Dilated, Biology, medicine.disease_cause, Polymerase Chain Reaction, DNA sequencing, Gene mapping, Complementary DNA, Genetics, medicine, Humans, Coding region, Protein Precursors, Promoter Regions, Genetic, Gene, Genetics (clinical), Genomic organization, Genomic Library, Mutation, Chromosomes, Human, Pair 10, PPIF, Exons, Peptidylprolyl Isomerase, Physical Chromosome Mapping, Molecular biology, Introns, Mitochondria
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a984e0cf197efd84e617bafd16ff26fTest
https://doi.org/10.1007/s004399900173Test -
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المؤلفون: Sabita K. Murthy, Michael A. Walter, J. S. Friedman, Doug J. Demetrick, Robert J. Winkfein, Joseph Tucker, Paul P. M. Schnetkamp
المصدر: Human Genetics. 103:411-414
مصطلحات موضوعية: Untranslated region, Chromosomes, Human, Pair 15, Base Sequence, genetic structures, Molecular Sequence Data, Intron, Chromosome Mapping, Retinal, Biology, Molecular biology, Sodium-Calcium Exchanger, chemistry.chemical_compound, Gene mapping, chemistry, Complementary DNA, Genetics, Humans, Coding region, Radiation hybrid mapping, Amino Acid Sequence, sense organs, Carrier Proteins, Genetics (clinical), Genomic organization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5594e9a9cc2684df0b15134dd0243ad0Test
https://doi.org/10.1007/s004390050842Test -
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المؤلفون: Paul Renbaum, Michael I. Lerman, Fuh-Mei Duh, Farida Latif, Berton Zbar, Igor Kuzmin
المصدر: Human Genetics. 98:666-671
مصطلحات موضوعية: Untranslated region, endocrine system diseases, Sequence analysis, Ubiquitin-Protein Ligases, urologic and male genital diseases, Ligases, Complementary DNA, Von Hippel–Lindau tumor suppressor, Tumor Cells, Cultured, Genetics, Animals, Humans, Coding region, Genes, Tumor Suppressor, neoplasms, Polymorphism, Single-Stranded Conformational, Genetics (clinical), biology, Three prime untranslated region, Tumor Suppressor Proteins, Nucleic acid sequence, Proteins, Sequence Analysis, DNA, Blotting, Northern, Molecular biology, female genital diseases and pregnancy complications, Rats, Von Hippel-Lindau Tumor Suppressor Protein, Regulatory sequence, biology.protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1e5e3aaa503a161b6a80cb810590f65Test
https://doi.org/10.1007/s004390050281Test -
5
المؤلفون: Jamel Chelly, Jean-Claude Chomel, Jean-Claude Kaplan, Jacques Lepercq, Axel Kahn, Nuria Fonknechten, Alain Kitzis
المصدر: Human Genetics. 88:508-512
مصطلحات موضوعية: Cystic Fibrosis, Transcription, Genetic, Molecular Sequence Data, Pyruvate Kinase, Restriction Mapping, Cystic Fibrosis Transmembrane Conductance Regulator, Biology, Polymerase Chain Reaction, Exon, Complementary DNA, Genetics, Animals, Humans, Coding region, Lymphocytes, RNA, Messenger, ΔF508, Gene, Genetics (clinical), Regulator gene, Base Sequence, Membrane Proteins, DNA, Exons, Molecular biology, Cystic fibrosis transmembrane conductance regulator, Rats, genomic DNA, Liver, Oligodeoxyribonucleotides, Organ Specificity, biology.protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e9e37d0a4546d5d8f1651bda4867d41Test
https://doi.org/10.1007/bf00219336Test -
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المؤلفون: Dan Grandér, Mats Merup, Marianne Hammarsund, William Wilson, Martin Corcoran, Olle Sangfelt, Stefan Einhorn
المصدر: Human genetics. 109(5)
مصطلحات موضوعية: Chromosomes, Artificial, Bacterial, DNA, Complementary, Molecular Sequence Data, Gene Expression, Biology, Genome, Homology (biology), Evolution, Molecular, Mitochondrial Proteins, Complementary DNA, Genetics, Coding region, Humans, Amino Acid Sequence, Cloning, Molecular, Gene, Genetics (clinical), Phylogeny, DNA Primers, Bacterial artificial chromosome, Base Sequence, Sequence Homology, Amino Acid, Peptide Elongation Factor G, Housekeeping gene, Mitochondria, Elongation factor
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::470c3717bbd187f1ff7378098c4e2428Test
https://pubmed.ncbi.nlm.nih.gov/11735030Test -
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المؤلفون: Neil R. M. Buist, Willy Lissens, Wim J. Kleijer, Ron A. Wevers, Inge Liebaers, Jean-Pierre Fryns, R. Vervoort
المصدر: Human Genetics, 99, 462-468
Human Genetics, 99, pp. 462-468مصطلحات موضوعية: Neuromusculaire en neurometabole ziekten, Polyadenylation, Molecular Sequence Data, Biology, Exon, Genetic Heterogeneity, Complementary DNA, Genetics, Coding region, Humans, RNA, Messenger, Gene, Genetics (clinical), Glucuronidase, Binding Sites, Polymorphism, Genetic, Base Sequence, Genetic heterogeneity, Intron, Mucopolysaccharidosis VII, DNA, Exons, Fibroblasts, Molecular biology, Reverse transcriptase, Mutation, Poly A
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b88b7877323d971dcb6230c2dfca01caTest
https://pubmed.ncbi.nlm.nih.gov/9099834Test -
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المؤلفون: M. Lévi-Strauss, V. C. Nguyen, D. Sabéran-Djoneidi, Alain Bernheim, S. Diriong
المصدر: Human Genetics. 93
مصطلحات موضوعية: DNA, Complementary, Rodentia, Hybrid Cells, Biology, Cell Line, Gene mapping, Genetic linkage, Complementary DNA, Genetics, medicine, Animals, Humans, Coding region, Gene, In Situ Hybridization, Genetics (clinical), cDNA library, Chromosome Mapping, Spinal muscular atrophy, medicine.disease, SMA, Molecular biology, Blotting, Southern, Chromosomes, Human, Pair 5, DNA Probes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14da2fa92107ae389608dfb13b9e1c94Test
https://doi.org/10.1007/bf00201576Test -
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المؤلفون: Hisaichi Fujii, Shiro Miwa, Akira Hirono
المصدر: Human genetics. 91(5)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, DNA Mutational Analysis, Molecular Sequence Data, Biology, Glucosephosphate Dehydrogenase, Arginine, Polymerase Chain Reaction, law.invention, chemistry.chemical_compound, Exon, Japan, law, hemic and lymphatic diseases, Complementary DNA, parasitic diseases, Genetics, Glucose-6-phosphate dehydrogenase, Coding region, Humans, Point Mutation, Cysteine, Genetics (clinical), Polymerase chain reaction, Base Sequence, Nucleic acid sequence, nutritional and metabolic diseases, Genetic Variation, DNA, Molecular Abnormality, Molecular biology, genomic DNA, Glucosephosphate Dehydrogenase Deficiency, chemistry, Polymorphism, Restriction Fragment Length
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5063cb6e51c9cb16828aec7db51eb381Test
https://pubmed.ncbi.nlm.nih.gov/8100211Test -
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المصدر: Human genetics. 87(6)
مصطلحات موضوعية: Hypoxanthine Phosphoribosyltransferase, Molecular Sequence Data, medicine.disease_cause, Polymerase Chain Reaction, Complementary DNA, Genetics, medicine, Coding region, Humans, Cloning, Molecular, Genetics (clinical), Alleles, Cells, Cultured, Mutation, biology, Base Sequence, Nucleic acid sequence, DNA, medicine.disease, genomic DNA, Hypoxanthine-guanine phosphoribosyltransferase, biology.protein, Phosphoribosyltransferase, Lesch–Nyhan syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d539418cd0b2e286b3e7f595de406492Test
https://pubmed.ncbi.nlm.nih.gov/1937471Test