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المؤلفون: Faith, Cheung, Patricia, Birch, J M, Friedman, Alison M, Elliott, Shelin, Adam
المصدر: Journal of Genetic Counseling. 31:887-900
مصطلحات موضوعية: Parents, Incidental Findings, Humans, Exome, Female, Genetic Counseling, Genetic Testing, Child, Genetics (clinical)
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المؤلفون: J. M. Friedman
المصدر: Clinical Genetics. 18:34-41
مصطلحات موضوعية: Genetics, Pregnancy, Evolutionary biology, Morphogenesis, Humans, Abnormalities, Multiple, Female, Biology, Genetics (clinical), Congenital Abnormalities
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d86176aa75a2a742e1f8ccc604b6bdf
https://doi.org/10.1111/j .1399-0004.1980.tb01362.x -
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المؤلفون: J. M. Friedman
المصدر: Clinical Genetics. 28:343-347
مصطلحات موضوعية: Male, Umbilicus, biology, business.industry, Navel, Syndrome, Anatomy, medicine.disease, biology.organism_classification, Robinow syndrome, body regions, medicine.anatomical_structure, Umbilicus (genus), Aarskog Syndrome, Child, Preschool, Genetics, medicine, Humans, Abdomen, Abnormalities, Multiple, Female, business, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a413ac37d02730f5f20760e478211c35
https://doi.org/10.1111/j .1399-0004.1985.tb00408.x -
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المؤلفون: X, Ning, S, Farschtschi, A, Jones, H, Kehrer-Sawatzki, V-F, Mautner, J M, Friedman
المصدر: Clinical genetics. 89(3)
مصطلحات موضوعية: Male, Neurofibromatosis 1, Neurofibromin 1, Adolescent, Child, Preschool, Puberty, Body Size, Humans, Infant, Female, Child, Gene Deletion
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7
المؤلفون: W Y Lo, J M Friedman
المصدر: Obstetrics & Gynecology. 100:465-473
مصطلحات موضوعية: Drug, Risk analysis, medicine.medical_specialty, Pediatrics, Drug-Related Side Effects and Adverse Reactions, media_common.quotation_subject, Pharmacology, Risk Assessment, Sensitivity and Specificity, Embryonic and Fetal Development, Pregnancy, Risk Factors, Product Surveillance, Postmarketing, Medicine, Animals, Humans, Drug Approval, media_common, Retrospective Studies, business.industry, United States Food and Drug Administration, Public health, Abnormalities, Drug-Induced, Obstetrics and Gynecology, Retrospective cohort study, medicine.disease, Teratology, United States, Pregnancy Trimester, First, Teratogens, Female, Teratogenic risk, Controlled Clinical Trials as Topic, Risk assessment, business
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المصدر: Biochemistry. 39:837-842
مصطلحات موضوعية: Carbon Monoxide, biology, Protein Conformation, Hydrogen bond, Stereochemistry, Chemistry, Ascaris, Iron, Phenylalanine, Spectrum Analysis, Raman, biology.organism_classification, Biochemistry, Hemoglobins, chemistry.chemical_compound, Crystallography, Protein structure, Myoglobin, Animals, Tyrosine, Hemoglobin, Oxidoreductases, Ascaris suum, Conformational isomerism, Carbon monoxide
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9Academic Journal
المؤلفون: S. W. Scherer, J. Cheung, J. R. MacDonald, L. R. Osborne, K. Nakabayashi, J. Herbrick, A. R. Carson, L. Parker Katiraee, J. Skaug, R. Khaja, J. Zhang, A. K. Hudek, M. Li, M. Haddad, G. E. Duggan, B. A. Fernandez, E. Kanematsu, S. Gentles, C. C. Christopoulos, S. Choufani, D. Kwasnicka, X. H. Zheng, Z. Lai, D. Nusskern, Q. Zhang, Z. Gu, F. Lu, S. Zeesman, M. J. Nowaczyk, I. Teshima, D. Chitayat, C. Shuman, R. Weksberg, E. H. Zackai, T. A. Grebe, S. R. Cox, S. J. Kirkpatrick, N. Rahman, J. M. Friedman, H. H. Q. Heng, F. Lo Coco, E. Belloni, L. G. Shaffer, B. Pober, C. C. Morton, J. F. Gusella, G. A. P. Bruns, B. R. Korf, B. J. Quade, A. H. Ligon, H. Ferguson, A. W. Higgins, N. T. Leach, S. R. Herrick, E. Lemyre, C. G. Farra, H. Kim, A. M. Summers, K. W. Gripp, W. Roberts, P. Szatmari, E. J. T. Winsor, K. Grzeschik, A. Teebi, B. A. Minassian, J. Kere, L. Armengol, M. A. Pujana, X. Estivill, M. D. Wilson, B. F. Koop, S. Tosi, G. E. Moore, A. P. Boright, E. Zlotorynski, B. Kerem, P. M. Kroisel, E. Petek, D. G. Oscier, S. J. Mould, H. Döhner, K. Döhner, J. M. Rommens, J. B. Vincent, J. C. Venter, P. W. Li, R. J. Mural, M. D. Adams, L. Tsui, P. G. Pelicci
المساهمون: S. W. Scherer, J. Cheung, J. R. MacDonald, L. R. Osborne, K. Nakabayashi, J. Herbrick, A. R. Carson, L. Parker-Katiraee, J. Skaug, R. Khaja, J. Zhang, A. K. Hudek, M. Li, M. Haddad, G. E. Duggan, B. A. Fernandez, E. Kanematsu, S. Gentle, C. C. Christopoulo, S. Choufani, D. Kwasnicka, X. H. Zheng, Z. Lai, D. Nusskern, Q. Zhang, Z. Gu, F. Lu, S. Zeesman, M. J. Nowaczyk, I. Teshima, D. Chitayat, C. Shuman, R. Weksberg, E. H. Zackai, T. A. Grebe, S. R. Cox, S. J. Kirkpatrick, N. Rahman, J. M. Friedman, H. H. Q. Heng, P. G. Pelicci, F. Lo-Coco, E. Belloni, L. G. Shaffer, B. Pober, C. C. Morton, J. F. Gusella, G. A. P. Brun, B. R. Korf, B. J. Quade, A. H. Ligon, H. Ferguson, A. W. Higgin, N. T. Leach, S. R. Herrick, E. Lemyre, C. G. Farra, H. Kim, A. M. Summer, K. W. Gripp, W. Robert, P. Szatmari, E. J. T. Winsor, K. Grzeschik, A. Teebi, B. A. Minassian, J. Kere, L. Armengol, M. A. Pujana, X. Estivill, M. D. Wilson, B. F. Koop, S. Tosi, G. E. Moore, A. P. Boright, E. Zlotorynski, B. Kerem, P. M. Kroisel, E. Petek, D. G. Oscier, S. J. Mould, H. Döhner, K. Döhner, J. M. Rommen, J. B. Vincent, J. C. Venter, P. W. Li, R. J. Mural, M. D. Adam, L. Tsui
مصطلحات موضوعية: Animal, Human, In Situ Hybridization, Fluorescence, Chromosome Mapping, Genomic Imprinting, Limb Deformities, Congenital, DNA, Complementary, Williams Syndrome, Autistic Disorder, Chromosome Fragility, Molecular Sequence Data, Databases, Genetic, Congenital Abnormalitie, Pseudogene, Euchromatin, Gene Duplication, Genes, Overlapping, Mice, Computational Biology, Sequence Analysis, Retroelement, Chromosomes, Pair 7, Neoplasm, RNA
Relation: info:eu-repo/semantics/altIdentifier/pmid/12690205; info:eu-repo/semantics/altIdentifier/wos/WOS:000182579800041; volume:300; issue:5620; firstpage:767-72; lastpage:772; journal:SCIENCE; http://hdl.handle.net/2434/194913; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0038756128
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المؤلفون: Vicki L. Dellarco, Terry J. Hassold, Jack B. Bishop, Lynnette R. Ferguson, J. M. Friedman, Andrew J. Wyrobek
المصدر: Environmental and Molecular Mutagenesis. 28:159-166
مصطلحات موضوعية: Genetics, Genetic Processes, Down syndrome, Epidemiology, Health, Toxicology and Mutagenesis, Germinal cell, Aneuploidy, Disease, Biology, medicine.disease, Risk regulation, Developmental psychology, Research knowledge, medicine, Etiology, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c780fd9b88b0e55d6b2ff6151b024193
https://doi.org/10.1002/(sici)1098-2280(1996)28:3<159::aid-em1>3.0.co;2-9 -
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المؤلفون: R E, Hirsch, M J, Lin, G J, Vidugiris, S, Huang, J M, Friedman, R L, Nagel, G V, Vidugirus
المصدر: Journal of Biological Chemistry. 271:372-375
مصطلحات موضوعية: chemistry.chemical_classification, Protein Conformation, Hydrogen bond, Stereochemistry, Lysine, Spectrum Analysis, Glutamic Acid, Cell Biology, Polymer, medicine.disease, Resonance (chemistry), Biochemistry, Hemoglobin C, Crystal, Crystallography, symbols.namesake, chemistry, Oxyhemoglobins, Helix, medicine, symbols, Humans, Raman spectroscopy, Molecular Biology, Alpha helix
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المؤلفون: R, Nguyen, T S, Mir, L, Kluwe, K, Jett, M, Kentsch, G, Mueller, H, Kehrer-Sawatzki, J M, Friedman, V-F, Mautner
المصدر: Clinical genetics. 84(4)
مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, Young Adult, Neurofibromatosis 1, Adolescent, Echocardiography, Genes, Neurofibromatosis 1, Humans, Female, Child, Gene Deletion
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المؤلفون: R E, Hirsch, J M, Friedman, J R, Harrington, S F, Scarlata, J P, Harrington
المصدر: Biochemical and Biophysical Research Communications. 200:1635-1640
مصطلحات موضوعية: Hydrostatic pressure, Biophysics, Analytical chemistry, chemistry.chemical_element, In Vitro Techniques, Biochemistry, Oxygen, Blood substitute, Hemoglobins, chemistry.chemical_compound, Tetramer, Potassium phosphate, Hydrostatic Pressure, Animals, Humans, Molecular Biology, HEPES, Aspirin, Myoglobin, Whales, Hemoglobin A, Cell Biology, Spectrometry, Fluorescence, chemistry, Hemoglobin
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المؤلفون: J. M. Friedman, Michael W.H. Patterson, Anil Kumar, Glenn Taylor
المصدر: American Journal of Medical Genetics. 46:423-426
مصطلحات موضوعية: Heart Defects, Congenital, Canada, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Heart disease, Autopsy, Goldenhar syndrome, Goldenhar Syndrome, Double outlet right ventricle, Internal medicine, Prevalence, medicine, Humans, Registries, cardiovascular diseases, Total anomalous pulmonary venous connection, Genetics (clinical), Tetralogy of Fallot, business.industry, medicine.disease, Endocrinology, cardiovascular system, Cardiology, Ventricular inversion, Pulmonary atresia, business
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المؤلفون: J. M. Friedman, L. Greenstein
المصدر: Archives of neurology and psychiatry. 58(1)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Brain Neoplasms, Anatomy, Biology, Pons, Midbrain, Direct Extension, nervous system, Arts and Humanities (miscellaneous), Mesencephalon, Neoplasms, medicine, Humans, Neurology (clinical), Site of origin
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المؤلفون: J M, FRIEDMAN, L, GREENSTEIN
المصدر: The Journal of nervous and mental disease. 104(6)
مصطلحات موضوعية: Brain Neoplasms, Brain, Brain Stem Neoplasms, Humans, Nervous System Diseases
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17
المؤلفون: Xihui Zhang, I. E. T. Iben, M. Stavola, J. M. Friedman, R. B. Macgregor
المصدر: Biophysical Journal. 59(5):1040-1049
مصطلحات موضوعية: Binding Sites, Chemistry, Calcium-Binding Proteins, Analytical chemistry, Fluorescence spectrometry, Biophysics, Water, Gadolinium, DNA, Ligand (biochemistry), Fluorescence, Spectral line, Ion, Crystallography, Parvalbumins, Spectrometry, Fluorescence, Molecular vibration, Phosphatidylcholines, Calcium, lipids (amino acids, peptides, and proteins), Spectroscopy, Edetic Acid, Research Article, Macromolecule
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المؤلفون: R. Sanches, J. M. Friedman, I. E. T. Iben, B. R. Cowen
المصدر: Biophysical Journal. 59(4):908-919
مصطلحات موضوعية: Time Factors, Protein Conformation, Resonance Raman spectroscopy, Analytical chemistry, Biophysics, Quantum yield, Spectrum Analysis, Raman, symbols.namesake, Freezing, Animals, Photolysis, Myoglobin, Chemistry, Photodissociation, Whales, Resonance, Hydrogen Bonding, Hydrogen-Ion Concentration, Nanosecond, Kinetics, Picosecond, symbols, Quantum Theory, Flash photolysis, Raman spectroscopy, Protein Binding, Research Article
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19Academic Journal
المؤلفون: J. Huang, M. Leone, J. M. Friedman, BOFFI, Alberto, CHIANCONE, Emilia
المساهمون: J., Huang, M., Leone, Boffi, Alberto, J. M., Friedman, Chiancone, Emilia
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/8744330; info:eu-repo/semantics/altIdentifier/wos/WOS:A1996UP42800044; volume:70; issue:6; firstpage:2924; lastpage:2929; numberofpages:6; journal:BIOPHYSICAL JOURNAL; http://hdl.handle.net/11573/246448; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0030043114; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=A1996UP42800044&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a; http://www.scopus.com/inward/record.url?eid=2-s2.0-0030043114&partnerID=65&md5=b2b3470d53b55d85a116138815540f2c
الاتاحة: http://hdl.handle.net/11573/246448
https://doi.org/10.1016/s0006-3495(96)79862-4
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=A1996UP42800044&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a
http://www.scopus.com/inward/record.url?eid=2-s2.0-0030043114&partnerID=65&md5=b2b3470d53b55d85a116138815540f2c -
20Academic Journal
المؤلفون: L K Heisler, E E Jobst, G M Sutton, L Zhou, E Borok, Z Thornton-Jones, H Y Liu, J M Zigman, N Balthasar, T Kishi, C E Lee, C J Aschkenasi, C Y Zhang, J Yu, O Boss, K G Mountjoy, Pete Clifton, B B Lowell, J M Friedman, T Horvath, A A Butler, J K Elmquist, M A Cowley
مصطلحات موضوعية: Uncategorised value