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المؤلفون: Esmeralda Martins, Teresa Tasso, Aguinaldo Cabral, Isabel Rivera, Isabel Tavares de Almeida, Maria Celeste Lechner, Uta Lichter-Konecki, D. S. Konecki, Filomena Eusébio, Laura Vilarinho, Paula Leandro, Carla Carmona, M.F. Almeida
المساهمون: Repositório da Universidade de Lisboa
المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAPمصطلحات موضوعية: Adult, Male, Biochemistry & Molecular Biology, Adolescent, Genotype, Phenylalanine hydroxylase, Phenylalanine, Endocrinology, Diabetes and Metabolism, Intelligence, Statistics as Topic, Population, Biology, Biochemistry, Endocrinology, Genotype-phenotype distinction, Hyperphenylalaninemia, Phenylketonurias, Genetics, medicine, Humans, Allele, Child, education, Molecular Biology, Intelligence Tests, Genetics & Heredity, education.field_of_study, Portugal, Infant, Phenylalanine Hydroxylase, medicine.disease, Phenotype, Medicine, Research & Experimental, Child, Preschool, Mutation, biology.protein, Female
وصف الملف: application/pdf
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المؤلفون: D. S. Konecki, Christine M. Hipke, Uta Lichter-Konecki
المصدر: Molecular Genetics and Metabolism. 67:308-316
مصطلحات موضوعية: Phenylalanine hydroxylase, Placenta, Endocrinology, Diabetes and Metabolism, Phenylalanine, Biology, Kidney, Biochemistry, Gene Expression Regulation, Enzymologic, Endocrinology, Hyperphenylalaninemia, Gene expression, polycyclic compounds, Genetics, medicine, Humans, Tissue Distribution, RNA, Messenger, Phenylketonuria (PKU), Northern blot, Pancreas, Molecular Biology, In Situ Hybridization, Regulation of gene expression, Brain, Phenylalanine Hydroxylase, Blotting, Northern, medicine.disease, Immunohistochemistry, medicine.anatomical_structure, Liver, biology.protein, Female
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المؤلفون: Friedrich K. Trefz, André Rupp, Uta Lichter-Konecki, H. Schmidt, D. S. Konecki, Peter Burgard
المصدر: European Journal of Pediatrics. 155:S11-S15
مصطلحات موضوعية: medicine.medical_specialty, Genotype, Phenylalanine hydroxylase, biology, business.industry, Infant, Newborn, Infant, Phenylalanine Hydroxylase, Residual, Phenotype, Enzyme assay, Enzyme Activation, Correlation, Endocrinology, Phenylketonurias, Internal medicine, Pediatrics, Perinatology and Child Health, Correlation analysis, medicine, biology.protein, Humans, Allele, business, Alleles
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المؤلفون: Peter Burgard, F. K. Trefz, Uta Lichter-Konecki, André Rupp, H. Schmidt, D. S. Konecki
المصدر: Journal of Inherited Metabolic Disease. 17:362-365
مصطلحات موضوعية: Genetics, chemistry.chemical_classification, medicine.medical_specialty, Phenylalanine hydroxylase, biology, Genetic heterogeneity, Phenotype, Human genetics, law.invention, Enzyme, chemistry, law, Molecular genetics, Genotype, biology.protein, medicine, Genetics (clinical), Polymerase chain reaction
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المؤلفون: Edzard Schmidt, H. Schmidt, Thomas König, Friedrich K. Trefz, Peter Burgard, Barbara Goebel-Schreiner, Horst Bickel, D. S. Konecki, Uta Lichter-Konecki
المصدر: Clinica Chimica Acta. 217:15-21
مصطلحات موضوعية: medicine.medical_specialty, Genotype, Phenylalanine hydroxylase, Phenylalanine, Clinical Biochemistry, Group ii, Biology, Biochemistry, Risk Factors, Phenylketonurias, Internal medicine, medicine, Residual activity, Humans, Prospective Studies, Child, Prospective cohort study, Genotype-Phenotype Correlations, Intelligence Tests, Biochemistry (medical), Infant, Newborn, Infant, Phenylalanine Hydroxylase, DNA, General Medicine, Phenotype, Endocrinology, Dietary treatment, Child, Preschool, biology.protein
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المؤلفون: Savio L. C. Woo, Janet L. DeMayo, Tina M. Hahn, Milton J. Finegold, Yibin Wang, D. S. Konecki, U. Lichter-Konecki
المصدر: Journal of Biological Chemistry. 267:15105-15110
مصطلحات موضوعية: Genetically modified mouse, Regulation of gene expression, Phenylalanine hydroxylase, Transgene, Cell Biology, Biology, Biochemistry, Molecular biology, Chloramphenicol acetyltransferase, Gene expression, biology.protein, Molecular Biology, Gene, Minigene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6f6af6aea9756bf02fdcfb7bad0c328c
https://doi.org/10.1016/s0021-9258(18)42152-7 -
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المؤلفون: D. Mardešić, G. Gjuric, I. Baric, Friedrich K. Trefz, Uta Lichter-Konecki, V. Sarnavka, B. Göbel-Schreiner, D. S. Konecki
المصدر: Human Genetics. 90:155-157
مصطلحات موضوعية: Genetics, education.field_of_study, Phenylalanine hydroxylase, biology, Croatia, Genetic heterogeneity, Phenylketonurias, Population, Haplotype, Phenylalanine Hydroxylase, Locus (genetics), Haplotypes, Mutation, biology.protein, Restriction fragment length polymorphism, Allele, Codon, education, Alleles, Polymorphism, Restriction Fragment Length, Genetics (clinical)
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المؤلفون: D. S. Konecki, Paula Leandro, Isabel Tavares de Almeida, Maria Celeste Lechner, Isabel Rivera
المساهمون: Repositório da Universidade de Lisboa
المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAPمصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Biochemistry & Molecular Biology, Phenylalanine hydroxylase, Endocrinology, Diabetes and Metabolism, Phenylalanine, Recombinant Fusion Proteins, Mutant, Biochemistry, Cofactor, Gene Expression Regulation, Enzymologic, Endocrinology, Mutant protein, Genetics, medicine, Humans, Enzyme kinetics, Molecular Biology, Genetics & Heredity, chemistry.chemical_classification, biology, nutritional and metabolic diseases, Genetic Variation, Phenylalanine Hydroxylase, Tetrahydrobiopterin, Molecular biology, Kinetics, Enzyme, Medicine, Research & Experimental, chemistry, Amino Acid Substitution, Mutation, biology.protein, medicine.drug
وصف الملف: application/pdf
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المؤلفون: J B, Vincent, D S, Konecki, E, Munstermann, P, Bolton, A, Poustka, F, Poustka, H M, Gurling
المصدر: Molecular psychiatry. 1(3)
مصطلحات موضوعية: Male, Fragile X Mental Retardation Protein, Polymorphism, Genetic, Base Sequence, Molecular Sequence Data, Humans, Point Mutation, RNA-Binding Proteins, Female, Nerve Tissue Proteins, Autistic Disorder, Polymerase Chain Reaction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7f5014444b1e7628c67a7995d8cfc414
https://pubmed.ncbi.nlm.nih.gov/9118347 -
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المؤلفون: D. S. Konecki, Bernhard Korn, S. M. Klauck, Zdenek Sedlacek, Annemarie Poustka
المصدر: Mammalian genome : official journal of the International Mammalian Genome Society. 5(10)
مصطلحات موضوعية: DNA, Complementary, X Chromosome, Molecular Sequence Data, Biology, Conserved sequence, Exon, GTP-Binding Proteins, Complementary DNA, Genetics, Animals, Humans, Amino Acid Sequence, Gene, Conserved Sequence, Genomic organization, DNA Primers, Guanine Nucleotide Dissociation Inhibitors, Base Sequence, Sequence Homology, Amino Acid, Intron, Chromosome Mapping, Biological Evolution, Rats, genomic DNA, Cattle, Rab