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1دورية أكاديمية
المؤلفون: D. G. MacArthur, T. A. Manolio, D. P. Dimmock, H. L. Rehm, J. Shendure, G. R. Abecasis, D. R. Adams, R. B. Altman, S. E. Antonarakis, E. A. Ashley, J. C. Barrett, L. G. Biesecker, D. F. Co
المصدر: Nature, Nature. 508(7497):469-476
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2
المؤلفون: G. Landouré, M. A. Knight, H. Stanescu, A. A. Taye, Y. Shi, O. Diallo, J. O. Johnson, D. Hernandez, B. J. Traynor, L. G. Biesecker, N. I. H., A. Elkahloun, A. Vincent, N. Willcox, R. Kleta, K. H. Fischbeck, B. G. Burnett, RINALDI, CARLO
المساهمون: G., Landouré, M. A., Knight, H., Stanescu, A. A., Taye, Y., Shi, O., Diallo, J. O., Johnson, D., Hernandez, B. J., Traynor, L. G., Biesecker, N. I., H., A., Elkahloun, Rinaldi, Carlo, A., Vincent, N., Willcox, R., Kleta, K. H., Fischbeck, B. G., Burnett
مصطلحات موضوعية: Candidate gene, Genetic Linkage, genetics, Polymorphism, genetics, NADH, Biology, Polymorphism, Single Nucleotide, Autoimmune Diseases, Aged, Alleles, Autoimmune Disease, Consanguinity, Genetic linkage, Multienzyme Complexes, Myasthenia Gravis, medicine, Humans, NADH, NADPH Oxidoreductases, Allele, Gene, Alleles, Aged, Genetics, Chromosome Mapping, Heterozygote advantage, genetics, Chromosome Mapping, Consanguinity, Genetic Linkage, Humans, Middle Aged, Multienzyme Complexe, Single Nucleotide, Articles, Middle Aged, genetics, Mutation, Myasthenia Gravi, Disease gene identification, medicine.disease, Molecular biology, Myasthenia gravis, Reverse transcription polymerase chain reaction, Mutation, Neurology (clinical), NADPH Oxidoreductase
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2fbffdcbf12c95e54ab87789a84c107
https://europepmc.org/articles/PMC3400092/ -
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المؤلفون: L G, Biesecker
المصدر: Cambridge Quarterly of Healthcare Ethics. 5:300-306
مصطلحات موضوعية: Genetic Research, Health (social science), Orphan Drug Production, Genetic Services, Health Policy, Genetic Diseases, Inborn, Genetic Counseling, United States, Social Control, Formal, Issues, ethics and legal aspects, Genetic Techniques, Predictive Value of Tests, Humans, Ethics, Medical, Genetic Testing, Ethics Committees, Research
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2745ee017df0a40214fe00c8dc368a61
https://doi.org/10.1017/s0963180100007076 -
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المؤلفون: L G, Biesecker
المصدر: Clinical genetics. 68(4)
مصطلحات موضوعية: Phenotype, Genetics, Medical, Terminology as Topic, Humans, Congenital Abnormalities
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5
المؤلفون: L G, Biesecker, J, Johnston
المصدر: Clinical genetics. 68(3)
مصطلحات موضوعية: Craniofacial Abnormalities, DNA-Binding Proteins, Male, Polydactyly, Phenotype, Zinc Finger Protein Gli3, Mutation, Infant, Newborn, Kruppel-Like Transcription Factors, Humans, Nerve Tissue Proteins, Transcription Factors
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6
المؤلفون: A, Azzam, D M, Lerner, K F, Peters, E, Wiggs, D L, Rosenstein, L G, Biesecker
المصدر: Clinical genetics. 67(1)
مصطلحات موضوعية: Adult, Adolescent, Developmental Disabilities, Hamartoma, Mental Disorders, Syndrome, Middle Aged, Neuropsychological Tests, Polydactyly, Phenotype, Humans, Abnormalities, Multiple, Prospective Studies, Child, Hypothalamic Diseases, Aged, Genes, Dominant
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7
المؤلفون: L G, Biesecker
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 2(3)
مصطلحات موضوعية: Cystic Fibrosis, Risk Factors, Genetic Carrier Screening, Mutation, Humans, Genetic Counseling, DNA, Genetic Testing
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8
المؤلفون: C, Galasso, G, Scirè, F, Fabbri, G L, Spadoni, C E, Killoran, L G, Biesecker, B, Boscherini
المصدر: American journal of medical genetics. 99(2)
مصطلحات موضوعية: Male, Adolescent, Human Growth Hormone, Hamartoma, Infant, Newborn, Kruppel-Like Transcription Factors, Infant, Nerve Tissue Proteins, Zinc Fingers, Syndrome, Xenopus Proteins, Magnetic Resonance Imaging, DNA-Binding Proteins, Repressor Proteins, Polydactyly, Zinc Finger Protein Gli3, Child, Preschool, Humans, Abnormalities, Multiple, Child, Chromosomes, Human, Pair 7, Hypothalamic Diseases, Transcription Factors
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9
المؤلفون: A M, Slavotinek, S J, Vacha, K F, Peters, L G, Biesecker
المصدر: Clinical genetics. 58(5)
مصطلحات موضوعية: Adult, Male, Venous Thrombosis, Death, Sudden, Adolescent, Humans, Female, Child, Pulmonary Embolism, Proteus Syndrome
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المؤلفون: A M, Slavotinek, L G, Biesecker
المصدر: American journal of medical genetics. 95(3)
مصطلحات موضوعية: Adult, Family Health, Male, Multiple Organ Failure, Ovary, Uterus, Infant, Newborn, Infant, Syndrome, Diagnosis, Differential, Phenotype, Pregnancy, Child, Preschool, Urogenital Abnormalities, Ethnicity, Humans, Abnormalities, Multiple, Female, Age of Onset, Child, Bardet-Biedl Syndrome, Fallopian Tubes