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

الإتاحة: https://ideas.repec.org/a/nat/nature/v508y2014i7497d10.1038_nature13127.html

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/

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

المؤلفون: L G, Biesecker

المصدر: Clinical genetics. 68(4)

مصطلحات موضوعية: Phenotype, Genetics, Medical, Terminology as Topic, Humans, Congenital Abnormalities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d4cfb73975532fbb6d128e14906e32d6
https://pubmed.ncbi.nlm.nih.gov/16143016

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::fca423b8f41ff5b4b992142417713620
https://pubmed.ncbi.nlm.nih.gov/15811011

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::0a8a5f670702cec77e9669f28f3f3361
https://pubmed.ncbi.nlm.nih.gov/15617553

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::07abc0ee176e7c1e63b98c2433761a84
https://pubmed.ncbi.nlm.nih.gov/11263543

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::81f9ecf8ea973262357f69655bf83fa6
https://pubmed.ncbi.nlm.nih.gov/11241471

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::812fc015747ecc909b3a0c571394de8a
https://pubmed.ncbi.nlm.nih.gov/11140839

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f4dd475ea630ea16baca096b3665539b
https://pubmed.ncbi.nlm.nih.gov/11102925