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1دورية أكاديمية
المؤلفون: Elicia Estrella, Shira Rockowitz, Marielle Thorne, Pressley Smith, Jeanette Petit, Veronica Zehnder, Richard N. Yu, Stuart Bauer, Charles Berde, Pankaj B. Agrawal, Alan H. Beggs, Ali G. Gharavi, Louis Kunkel, Catherine A. Brownstein
المصدر: Advanced Genetics, Vol 4, Iss 1, Pp n/a-n/a (2023)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2641-6573Test
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2دورية أكاديمية
المؤلفون: Jaime E. Hale, Basil T. Darras, Kathryn J. Swoboda, Elicia Estrella, Jin Yun Helen Chen, Mary-Alice Abbott, Beverly N. Hay, Binod Kumar, Anne M. Counihan, Jacalyn Gerstel-Thompson, Inderneel Sahai, Roger B. Eaton, Anne Marie Comeau
المصدر: International Journal of Neonatal Screening, Vol 7, Iss 2, p 26 (2021)
مصطلحات موضوعية: newborn screening, Spinal Muscular Atrophy, SMN1 gene, SMN2 gene, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3
المؤلفون: Dustin L. Gable, Alisa Mo, Elicia Estrella, Afshin Saffari, Partha S. Ghosh, Darius Ebrahimi‐Fakhari
المصدر: American Journal of Medical Genetics Part A. 188:3531-3534
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f5ae50f022925c1c35b0b492ff7dd257Test
https://doi.org/10.1002/ajmg.a.62953Test -
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المؤلفون: Catherine Brownstein, Elicia Estrella, Shira Rockowitz, Marielle Thorne, Pressley Smith, Jeanette Petit, Veronica Zehnder, Richard Yu, Stuart Bauer, Charles Berde, Pankaj Agrawal, Alan Beggs, Louis Kunkel, Ali Gharavi
المصدر: Journal of Urology. 209
مصطلحات موضوعية: Urology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::40e0e257ec5fed3c90ad2e8cc461f993Test
https://doi.org/10.1097/ju.0000000000003318.02Test -
5
المؤلفون: Bethany Zettler, Elicia Estrella, Khalida Liaquat, Lauren Lichten
المصدر: Journal of Genetic Counseling. 31:803-814
مصطلحات موضوعية: Muscular Atrophy, Spinal, Neonatal Screening, Pregnancy, Prenatal Diagnosis, Infant, Newborn, Humans, Female, Genetic Counseling, Prospective Studies, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::507e8576f42df9a9f940afc73ee8fae1Test
https://doi.org/10.1002/jgc4.1549Test -
6
المؤلفون: Kimia Kahrizi, Tomáš Mráček, Hector Diaz-Maldonado, Maria Falkenberg, Safoora B. Syeda, Penelope E. Bonnen, Stanislav Kmoch, Peter B. Kang, Zuzana Korandová, Emily Hoberg, Bradley Peter, Lauren Brady, K. Nicole Weaver, Louis M. Kunkel, Alena Pecinová, Mark A. Tarnopolsky, Zsolt Szilagyi, Hossein Najmabadi, Meenakshi Singh, Ewen W. Sommerville, Sasigarn A. Bowden, Elicia Estrella, Kim L. McBride, Hans-Hilger Ropers, Grainne S. Gorman, Emma L. Blakely, Claes M. Gustafsson, Viktor Stránecký, Christine C. Bruels, Monika Oláhová, Sander Pajusalu, Carlos E. Prada, Jack J Collier, Katrin Õunap, Lynn Pais, Hana Hartmannová, Monica H. Wojcik, Robert W. Taylor, Anthony J. Bleyer
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Nature Communicationsمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Mitochondrial DNA, Adolescent, Transcription, Genetic, POLRMT, Science, General Physics and Astronomy, Biology, DNA, Mitochondrial, Article, Oxidative Phosphorylation, General Biochemistry, Genetics and Molecular Biology, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Protein Domains, Transcription (biology), RNA polymerase, Genetics, Humans, RNA, Messenger, Child, Polymerase, Multidisciplinary, Massive parallel sequencing, Molecular medicine, Infant, DNA-Directed RNA Polymerases, General Chemistry, Fibroblasts, Phenotype, Mitochondria, Pedigree, Protein Subunits, 030104 developmental biology, Neurology, chemistry, Mutation, biology.protein, Female, Nervous System Diseases, 030217 neurology & neurosurgery, DNA, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d3cd65a0bc920d80c2e2a494ae76dafTest
https://doaj.org/article/35895711cd76476484b7067a5177046aTest -
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المؤلفون: Elicia Estrella, Peter B. Kang
المصدر: Muscle & Nerve. 63:282-284
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Physiology, Physiology (medical), Genomics, Neurology (clinical), Computational biology, Biology, Exome, Test (assessment)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b3a8187525adbd0a5926a20ada01ec91Test
https://doi.org/10.1002/mus.27160Test -
8دورية أكاديمية
المؤلفون: Citation Bennett, Richard R, Hal E. Schneider, Elicia Estrella, Andrew S. Cheng, Caitlin Barrett, Va Lip, Citable Link, Richard R Bennett, Hal E Schneider, Stephanie Burgess, Andrew S Cheng, Poh San Lai, Yiping Shen, Lin Wu, Basil T Darras, Alan H Beggs, Louis M Kunkel
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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9دورية أكاديمية
المؤلفون: Richard R Bennett, Hal E Schneider, Elicia Estrella, Stephanie Burgess, Andrew S Cheng, Caitlin Barrett, Va Lip, Poh San Lai, Yiping Shen, Lin Wu, Basil T Darras, Alan H Beggs, Louis M Kunkel, Open Access
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/6c/1d/BMC_Genet_2009_Oct_18_10_66.tar.gz
وصف الملف: application/zip
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المؤلفون: Anne Marie Comeau, Jin Yun Helen Chen, Inderneel Sahai, Kathryn J. Swoboda, Anne M. Counihan, Binod Kumar, Basil T. Darras, Jacalyn L. Gerstel-Thompson, Beverly N. Hay, Jaime E. Hale, Roger B. Eaton, Elicia Estrella, Mary-Alice Abbott
المصدر: International Journal of Neonatal Screening, Vol 7, Iss 26, p 26 (2021)
International Journal of Neonatal Screening
Volume 7
Issue 2مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Day of life, Population, SMN2 gene, SMN1, Asymptomatic, Article, RJ1-570, 03 medical and health sciences, 0302 clinical medicine, New england, Immunology and Microbiology (miscellaneous), medicine, SMN1 gene, education, Newborn screening, education.field_of_study, newborn screening, business.industry, Obstetrics and Gynecology, Spinal muscular atrophy, medicine.disease, SMA, 030104 developmental biology, Spinal Muscular Atrophy, Pediatrics, Perinatology and Child Health, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad6570af668f1f5ad2368000b2a99240Test
https://doi.org/10.3390/ijns7020026Test
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