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1دورية أكاديمية
المؤلفون: Brian C. Haynes, Richard A. Blidner, Robyn D. Cardwell, Robert Zeigler, Shobha Gokul, Julie R. Thibert, Liangjing Chen, Junya Fujimoto, Vassiliki A. Papadimitrakopoulou, Ignacio I. Wistuba, Gary J. Latham
المصدر: Translational Oncology, Vol 12, Iss 6, Pp 836-845 (2019)
مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: David H. Barad, Sarah Darmon, Andrea Weghofer, Gary J. Latham, Filipovic-Sadic, Qi Wang, Vitaly A. Kushnir, David F. Albertini, Norbert Gleicher
المصدر: Reproductive Biology and Endocrinology, Vol 15, Iss 1, Pp 1-8 (2017)
مصطلحات موضوعية: FMR1, Primary Ovarian Insufficiency, Skewed X-chromosome inactivation, AMH, Methylation, Ovarian reserve, Gynecology and obstetrics, RG1-991, Reproduction, QH471-489
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Noam Domniz, Liat Ries-Levavi, Yoram Cohen, Lilach Marom-Haham, Michal Berkenstadt, Elon Pras, Anne Glicksman, Nicole Tortora, Gary J. Latham, Andrew G. Hadd, Sarah L. Nolin, Shai E. Elizur
المصدر: Frontiers in Genetics, Vol 9 (2018)
مصطلحات موضوعية: FMR1 premutation, carrier screening, AGG interruptions, genetic counseling, risk assessment, full mutation expansion, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Alessandro De Luca, Annunziata Morella, Federica Consoli, Sergio Fanelli, Julie R. Thibert, Sarah Statt, Gary J. Latham, Ferdinando Squitieri
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 4, p 1689 (2021)
مصطلحات موضوعية: Huntington disease, HTT-CAG repeats, novel diagnostic test, TP-PCR, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Dejan B. Budimirovic, Annette Schlageter, Stela Filipovic-Sadic, Dragana D. Protic, Eran Bram, E. Mark Mahone, Kimberly Nicholson, Kristen Culp, Kamyab Javanmardi, Jon Kemppainen, Andrew Hadd, Kevin Sharp, Tatyana Adayev, Giuseppe LaFauci, Carl Dobkin, Lili Zhou, William Ted Brown, Elizabeth Berry-Kravis, Walter E. Kaufmann, Gary J. Latham
المصدر: Brain Sciences, Vol 10, Iss 10, p 694 (2020)
مصطلحات موضوعية: autism spectrum disorder, fragile X syndrome, FMRP, FMR1, PCR, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Gary J. Latham, Justine eCoppinger, Andrew G. Hadd, Sarah L. Nolin
المصدر: Frontiers in Genetics, Vol 5 (2014)
مصطلحات موضوعية: Diagnostic Tests, Routine, Fragile X Syndrome, Risk Assessment, Autism Spectrum Disorders, FMR1, repeat expansion diseases, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Jeffrey Houghton, author1, Andrew G. Hadd, author1, Robert Zeigler, author1, Brian C. Haynes, author1, Gary J. Latham, author1
المصدر: Journal of Visualized Experiments. (110)
الإتاحة: http://www.jove.com/video/53836
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المؤلفون: Huiping Zhu, Gary J. Latham, Jessica L. Larson, Ya-Wen Huang, Caren Gentile, Henny H. Lemmink, Johanna Schleutker, Tsang-Ming Ko, Vivianna M. Van Deerlin, Kristin M. Abbott, Minna Toivonen, John N. Milligan, Walairat Laosinchai-Wolf, Stela Filipovic-Sadic
المصدر: Journal of molecular diagnostics, 23(6), 753-764. ELSEVIER SCIENCE INC
J Mol Diagnمصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, SMN1, Biology, FREQUENCY, Sensitivity and Specificity, NUSINERSEN, Pathology and Forensic Medicine, Muscular Atrophy, Spinal, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Gene Duplication, Gene duplication, Genotype, medicine, Humans, Digital polymerase chain reaction, Multiplex, Copy-number variation, SMA, Sanger sequencing, Genetics, IDENTIFICATION, Reproducibility of Results, Regular Article, Spinal muscular atrophy, medicine.disease, Survival of Motor Neuron 1 Protein, nervous system diseases, PREVALENCE, Survival of Motor Neuron 2 Protein, 030104 developmental biology, 030220 oncology & carcinogenesis, symbols, SURVIVAL, Molecular Medicine
وصف الملف: application/pdf
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المؤلفون: Gary J. Latham, Robert Zeigler, Robyn D. Cardwell, Brian C. Haynes, Vassiliki A. Papadimitrakopoulou, Ignacio I. Wistuba, Junya Fujimoto, Richard A. Blidner, Liangjing Chen, Shobha Gokul, Julie R. Thibert
المصدر: Translational Oncology, Vol 12, Iss 6, Pp 836-845 (2019)
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Cell, RNA, Cancer, Computational biology, Biology, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, lcsh:RC254-282, Phenotype, DNA sequencing, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Oncology, chemistry, 030220 oncology & carcinogenesis, medicine, Lung cancer, Gene, DNA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ba0f75f7e6b8167c8a2fb03c765c283
https://doi.org/10.1016/j .tranon.2019.02.012 -
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المؤلفون: Emily G. Allen, Stephanie L. Sherman, Gary J. Latham, James N. Macpherson, Andrew Hadd, Nicole Tortora, Carl Dobkin, Anne Glicksman, Angela Maria Vianna-Morgante, Sarah L. Nolin, Montserrat Milà
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics. Part aمصطلحات موضوعية: Male, 0301 basic medicine, Fragile x, Inheritance Patterns, fragile X, Gene Expression, 030105 genetics & heredity, Biology, Fragile X Mental Retardation Protein, 03 medical and health sciences, Gene Frequency, trinucleotide repeat instability, Genetics, Humans, Allele, FMR1, Alleles, Genetics (clinical), MUTAÇÃO GENÉTICA, Original Articles, Pedigree, 030104 developmental biology, Cgg repeat, Fragile X Syndrome, Original Article, Female, Trinucleotide Repeat Expansion, Premutation allele