المؤلفون: Agrawal, Neena, Farhat, Nicole Y., Sinaii, Ninet, Do, An Dang, Xiao, Changrui, Berry-Kravis, Elizabeth, Bianconi, Simona, Masvekar, Ruturaj, Bielekova, Bibiana, Solomon, Beth, Porter, Forbes D.

المساهمون: Ara Parseghian Medical Research Fund, National Institutes of Health, National Institute of Child Health and Human Development, Ara Parseghian Medical Research Foundation, Eunice Kennedy Shriver National Institute of Child Health and Human Development

المصدر: Genetics in Medicine ; volume 25, issue 3, page 100349 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.11.017Test
https://api.elsevier.com/content/article/PII:S1098360022010371?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022010371?httpAccept=text/plainTest

المؤلفون: Solomon, Beth I.¹ (AUTHOR) Bsolomon@nih.gov, Muñoz, Andrea M.² (AUTHOR), Sinaii, Ninet³ (AUTHOR), Mohamed, Hibaaq² (AUTHOR), Farhat, Nicole M.² (AUTHOR), Alexander, Derek² (AUTHOR), Do, An Dang² (AUTHOR), Porter, Forbes D.² (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 6/11/2024, Vol. 19 Issue 1, p1-10. 10p.

مصطلحات موضوعية: *DEGLUTITION, *NIEMANN-Pick diseases, *NATURAL history, *VISCOSITY, *LYSOSOMAL storage diseases, *CEREBROSPINAL fluid

المؤلفون: Lam, Christina, Ferreira, Carlos, Krasnewich, Donna, Toro, Camilo, Latham, Lea, Zein, Wadih M, Lehky, Tanya, Brewer, Carmen, Baker, Eva H, Thurm, Audrey, Farmer, Cristan A, Rosenzweig, Sergio D, Lyons, Jonathan J, Schreiber, John M, Gropman, Andrea, Lingala, Shilpa, Ghany, Marc G, Solomon, Beth, Macnamara, Ellen, Davids, Mariska, Stratakis, Constantine A, Kimonis, Virginia, Gahl, William A, Wolfe, Lynne

المصدر: Genetics in Medicine. 19(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Neurosciences, Eye Disease and Disorders of Vision, Clinical Research, Clinical Trials and Supportive Activities, Adolescent, Adult, Albumins, Cerebrospinal Fluid Proteins, Child, Child, Preschool, Developmental Disabilities, Female, Glycoproteins, Glycosylation, Humans, Male, Mutation, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, Phenotype, Young Adult, deglycosylation, glycosylation, natural history, NGLY1, NGLY1-CDDG, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3cf4782rTest

المؤلفون: D’Souza, Precilla, Farmer, Cristan, Johnston, Jean M., Han, Sangwoo T., Adams, David, Hartman, Adam L., Zein, Wadih, Huryn, Laryssa A., Solomon, Beth, King, Kelly, Jordan, Christopher P., Myles, Jennifer, Nicoli, Elena-Raluca, Rothermel, Caroline E., Mojica Algarin, Yoliann, Huang, Reyna, Quimby, Rachel, Zainab, Mosufa, Bowden, Sarah, Crowell, Anna, Buckley, Ashura, Brewer, Carmen, Regier, Debra S., Brooks, Brian P., Acosta, Maria T., Baker, Eva H., Vézina, Gilbert, Thurm, Audrey, Tifft, Cynthia J.

المساهمون: National Human Genome Research Institute

المصدر: Genetics in Medicine ; page 101144 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2024.101144Test
https://api.elsevier.com/content/article/PII:S1098360024000777?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360024000777?httpAccept=text/plainTest

المؤلفون: Solomon, Beth Diane

المصدر: ProQuest LLC. 2019Ph.D. Dissertation, Clemson University.

تمت مراجعته من قبل الزملاء: N

Page Count: 154

الواصفات: Leadership Qualities, Athletics, Team Sports, Females, Leadership Training, Participation, Coaching (Performance), Self Concept, Family Role, College Athletics

الوصول الحر: http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqm&rft_dat=xri:pqdiss:13860820Test

المؤلفون: Solomon, Beth D., Jolly, Karina G., Stokowski, Sarah, Ehrlich, Sam C., Arthur-Banning, Skye G.

المصدر: Sports Innovation Journal; Vol. 3 No. SI (2022): Special Issue: College Athletics Governance; 69-80 ; 2688-3961

مصطلحات موضوعية: NIL, international student-athletes, F-1 visa, college athletics

وصف الملف: application/pdf

العلاقة: http://journals.iupui.edu/index.php/sij/article/view/26058/24376Test; http://journals.iupui.edu/index.php/sij/article/view/26058Test

الإتاحة: http://journals.iupui.edu/index.php/sij/article/view/26058Test

المؤلفون: Solomon, Beth I., Muñoz, Andrea M., Sinaii, Ninet, Farhat, Nicole M., Smith, Andrew C., Bianconi, Simona, Dang Do, An, Backman, Michael C., Machielse, Leonza, Porter, Forbes D.

المساهمون: Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH Clinical Center, National Institutes of Health

المصدر: Orphanet Journal of Rare Diseases ; volume 17, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-022-02472-wTest

المؤلفون: O’Brien, Kevin, Dave, Rahul, Shekhar, Skand, Hannah-Shmouni, Fady, Comis, Leora E., Solomon, Beth I., Chen, Marcus, Gahl, William A., FitzGibbon, Edmond, Gochuico, Bernadette R., Estrada-Veras, Juvianee I.

المصدر: Journal of the National Comprehensive Cancer Network ; volume 19, issue 11, page 1312-1318 ; ISSN 1540-1405 1540-1413

مصطلحات موضوعية: Oncology

الإتاحة: https://doi.org/10.6004/jnccn.2021.7096Test
https://jnccn.org/view/journals/jnccn/19/11/article-p1312.xmlTest
https://jnccn.org/downloadpdf/journals/jnccn/19/11/article-p1312.xmlTest

المؤلفون: Doherty, Emily S, Lacbawan, Felicitas, Hadley, Donald W, Brewer, Carmen, Zalewski, Christopher, Kim, H Jeff, Solomon, Beth, Rosenbaum, Kenneth, Domingo, Demetrio L, Hart, Thomas C, Brooks, Brian P, Immken, LaDonna, Lowry, R Brian, Kimonis, Virginia, Shanske, Alan L, Jehee, Fernanda Sarquis, Bueno, Maria Rita Passos, Knightly, Carol, McDonald‐McGinn, Donna, Zackai, Elaine H, Muenke, Maximilian

المصدر: American Journal of Medical Genetics Part A, vol 143A. (24)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Rare Diseases, Clinical Trials and Supportive Activities, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Congenital, Adult, Aged, Audiometry, Child, Preschool, Craniosynostoses, Developmental Disabilities, Female, Hearing Loss, Sensorineural, Humans, Infant, Male, Mutation, Pedigree, Phenotype, Receptor, Fibroblast Growth Factor, Type 3, Sex Factors, Speech Disorders, Syndrome, Tomography, X-Ray Computed, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/27h6d419Test

المؤلفون: Seehra, Gurpreet, Solomon, Beth, Ryan, Emory, Steward, Alta M, Roshan Lal, Tamanna, Tanima, Yuichiro, Lopez, Grisel, Sidransky, Ellen

المساهمون: National Human Genome Research Institute

المصدر: Molecular Genetics and Metabolism ; volume 127, issue 3, page 191-199 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2019.06.002Test
https://api.elsevier.com/content/article/PII:S1096719219304135?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719219304135?httpAccept=text/plainTest