المؤلفون: Waldrop, Megan A, Moore, Steven A, Mathews, Katherine D, Darbro, Benjamin W, Medne, Livja, Finkel, Richard, Connolly, Anne M, Crawford, Thomas O, Drachman, Daniel, Wein, Nicolas, Habib, Ali A, Krzesniak-Swinarska, Monika A, Zaidman, Craig M, Collins, James J, Jokela, Manu, Udd, Bjarne, Day, John W, Ortiz-Guerrero, Gloria, Statland, Jeff, Butterfield, Russell J, Dunn, Diane M, Weiss, Robert B, Flanigan, Kevin M

المصدر: Human mutation. 43(4)

مصطلحات موضوعية: Humans, Muscular Dystrophy, Duchenne, Dystrophin, RNA Splice Sites, Mutation, Introns, Becker muscular dystrophy, Duchenne muscular dystrophy, deep intronic, pseudoexon, telescripting, transcription termination, Muscular Dystrophy, Biotechnology, Human Genome, Genetics, Intellectual and Developmental Disabilities (IDD), Duchenne/ Becker Muscular Dystrophy, Brain Disorders, Rare Diseases, Pediatric, Musculoskeletal, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9k94v14s

المؤلفون: Pinnaro, Catherina T., Zimmerman, Blake Irvin, Ryckman, Kelli K., Darbro, Benjamin W., Norris, Andrew W.

المصدر: Hormone Research in Paediatrics ; page 1-9 ; ISSN 1663-2818 1663-2826

الاتاحة: https://doi.org/10.1159/000542677
https://karger.com/hrp/article-pdf/doi/10.1159/000542677/4316140/000542677.pdf

المؤلفون: Rojas Chávez, Roberth Anthony, Fili, Mohammad, Han, Changze, Rahman, Syed A., Bicar, Isaiah G. L., Gregory, Sullivan, Helverson, Annika, Hu, Guiping, Darbro, Benjamin W., Das, Jishnu, Brown, Grant D., Haim, Hillel

المساهمون: Mendes, Pedro, amfAR, The Foundation for AIDS Research, Division of Microbiology and Infectious Diseases, National Institute of Allergy and Infectious Diseases

المصدر: PLOS Computational Biology ; volume 20, issue 6, page e1012215 ; ISSN 1553-7358

الاتاحة: http://dx.doi.org/10.1371/journal.pcbi.1012215
https://dx.plos.org/10.1371/journal.pcbi.1012215

المؤلفون: Pinnaro, Catherina T., Beck, Chloe B., Major, Heather J., Darbro, Benjamin W.

المساهمون: Foundation for the National Institutes of Health, National Institute of Child Health and Human Development

المصدر: Human Genetics ; volume 142, issue 4, page 523-530 ; ISSN 0340-6717 1432-1203

الاتاحة: http://dx.doi.org/10.1007/s00439-023-02538-0
https://link.springer.com/content/pdf/10.1007/s00439-023-02538-0.pdf
https://link.springer.com/article/10.1007/s00439-023-02538-0/fulltext.html

المؤلفون: Lansdon, Lisa A., Dickinson, Amanda, Arlis, Sydney, Liu, Huan, Hlas, Arman, Hahn, Alyssa, Bonde, Greg, Long, Abby, Standley, Jennifer, Tyryshkina, Anastasia, Wehby, George, Lee, Nanette R., Daack-Hirsch, Sandra, Mohlke, Karen, Girirajan, Santhosh, Darbro, Benjamin W., Cornell, Robert A., Houston, Douglas W., Murray, Jeffrey C., Manak, J. Robert

المساهمون: National Institutes of Health

المصدر: The American Journal of Human Genetics ; volume 110, issue 1, page 71-91 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2022.11.012
https://api.elsevier.com/content/article/PII:S0002929722005031?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929722005031?httpAccept=text/plain

المؤلفون: Wetzel, Alyssa S., Darbro, Benjamin W.

المصدر: BMC Genomic Data ; volume 23, issue 1 ; ISSN 2730-6844

الاتاحة: http://dx.doi.org/10.1186/s12863-022-01093-3
https://link.springer.com/content/pdf/10.1186/s12863-022-01093-3.pdf
https://link.springer.com/article/10.1186/s12863-022-01093-3/fulltext.html

المؤلفون: Kaemmer, Courtney A., Umesalma, Shaikamjad, Maharjan, Chandra K., Moose, Devon L., Narla, Goutham, Mott, Sarah L., Zamba, Gideon K. D., Breheny, Patrick, Darbro, Benjamin W., Bellizzi, Andrew M., Henry, Michael D., Quelle, Dawn E.

المساهمون: NIH

المصدر: Scientific Reports ; volume 11, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-021-89866-1
https://www.nature.com/articles/s41598-021-89866-1.pdf
https://www.nature.com/articles/s41598-021-89866-1

المؤلفون: Chopra, Saurav, Dunham, Timothy, Syrbu, Sergei I, Karandikar, Nitin J, Darbro, Benjamin W, Holman, Carol J

المساهمون: Department of Pathology, Stead Family Department of Pediatrics, University of Iowa Hospital and Clinics

المصدر: American Journal of Clinical Pathology ; volume 156, issue 2, page 198-204 ; ISSN 0002-9173 1943-7722

الاتاحة: https://doi.org/10.1093/ajcp/aqaa224
http://academic.oup.com/ajcp/article-pdf/156/2/198/38877962/aqaa224.pdf

المؤلفون: Thomas, Christie P., Gupta, Sonali, Freese, Margaret E., Chouhan, Kanwaljit K., Dantuma, Maisie I., Holanda, Danniele G., Katz, Daniel A., Darbro, Benjamin W., Mansilla, Maria A., Smith, Richard J.

المصدر: Transplant International ; volume 34, issue 12, page 2696-2705 ; ISSN 0934-0874 1432-2277

الاتاحة: http://dx.doi.org/10.1111/tri.14133
https://onlinelibrary.wiley.com/doi/pdf/10.1111/tri.14133
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/tri.14133

المؤلفون: Krasowski, Matthew D., Dolezal, Anna, Steussy, Bryan W., Gailey, Michael P., Darbro, Benjamin W.

المصدر: Data in Brief ; volume 39, page 107578 ; ISSN 2352-3409

الاتاحة: http://dx.doi.org/10.1016/j.dib.2021.107578
https://api.elsevier.com/content/article/PII:S2352340921008532?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352340921008532?httpAccept=text/plain

المؤلفون: Wen, Lexiaochuan, Britton, Cameron J., Garje, Rohan, Darbro, Benjamin W., Packiam, Vignesh T.

المصدر: Asian Journal of Urology ; volume 8, issue 4, page 391-399 ; ISSN 2214-3882

الاتاحة: http://dx.doi.org/10.1016/j.ajur.2021.06.005
https://api.elsevier.com/content/article/PII:S2214388221000680?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214388221000680?httpAccept=text/plain

المؤلفون: Mohar, Nathaniel P., Cox, Efrem M., Adelizzi, Emily, Moore, Steven A., Mathews, Katherine D., Darbro, Benjamin W., Wallrath, Lori L.

المصدر: International Journal of Molecular Sciences; May2024, Vol. 25 Issue 9, p4930, 25p

مصطلحات موضوعية: GENETIC variation, LIMB-girdle muscular dystrophy, MUSCLE diseases, SKELETAL muscle, WHOLE genome sequencing, NEMALINE myopathy, NUCLEOTIDE sequence, MOLECULAR pathology, RNA splicing

المؤلفون: Abdelfattah, Fatima, Kariminejad, Ariana, Kahlert, Anne-Karin, Morrison, Patrick J, Gumus, Evren, Mathews, Katherine D, Darbro, Benjamin W, Amor, David J, Walsh, Maie, Sznajer, Yves, Weiß, Luisa, Weidensee, Sabine, Chitayat, David, Shannon, Patrick, Bermejo-Sánchez, Eva, Riaño-Galán, Isolina, Hayes, Ian, Poke, Gemma, Rooryck, Caroline, Pennamen, Perrine, Khung-Savatovsky, Suonavy, Toutain, Annick, Vuillaume, Marie-Laure, Ghaderi-Sohi, Siavash, Kariminejad, Mohamad H, Weinert, Sönke, Sticht, Heinrich, Zenker, Martin, Schanze, Denny

المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: Human mutation, Vol. 41, no.9, p. 1615-1628 (2020)

مصطلحات موضوعية: Neu-Laxova syndrome, PHGDH, PSAT1, autosomal recessive, genotype-phenotype correlation, l-serine biosynthesis

Relation: boreal:250213; http://hdl.handle.net/2078.1/250213; info:pmid/32579715; urn:ISSN:1059-7794; urn:EISSN:1098-1004

الاتاحة: http://hdl.handle.net/2078.1/250213
https://doi.org/10.1002/humu.24067

المؤلفون: Hildebrand, Joanne M, Kauppi, Maria, Majewski, Ian J, Liu, Zikou, Cox, Allison J, Miyake, Sanae, Petrie, Emma J, Silk, Michael A, Li, Zhixiu, Tanzer, Maria C, Brumatti, Gabriela, Young, Samuel N, Hall, Cathrine, Garnish, Sarah E, Corbin, Jason, Stutz, Michael D, Di Rago, Ladina, Gangatirkar, Pradnya, Josefsson, Emma C, Rigbye, Kristin, Anderton, Holly, Rickard, James A, Tripaydonis, Anne, Sheridan, Julie, Scerri, Thomas S, Jackson, Victoria E, Czabotar, Peter E, Zhang, Jian-Guo, Varghese, Leila, Allison, Cody C, Pellegrini, Marc, Tannahill, Gillian M, Hatchell, Esme C, Willson, Tracy A, Stockwell, Dina, de Graaf, Carolyn A, Collinge, Janelle, Hilton, Adrienne, Silke, Natasha, Spall, Sukhdeep K, Chau, Diep, Athanasopoulos, Vicki, Metcalf, Donald, Laxer, Ronald M, Bassuk, Alexander G, Darbro, Benjamin W, Fiatarone Singh, Maria A, Vlahovich, Nicole, Hughes, David, Kozlovskaia, Maria, Ascher, David B, Warnatz, Klaus, Venhoff, Nils, Thiel, Jens, Biben, Christine, Blum, Stefan, Reveille, John, Hildebrand, Michael S, Vinuesa, Carola G, McCombe, Pamela, Brown, Matthew A, Kile, Benjamin T, McLean, Catriona, Bahlo, Melanie, Masters, Seth L, Nakano, Hiroyasu, Ferguson, Polly J, Murphy, James M, Alexander, Warren S, Silke, John

المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/SIGN - Cell signalling

المصدر: Nature communications, Vol. 11, no.1, p. 3150 [1-16] (2020)

مصطلحات موضوعية: Animals, Newborn, Hematopoietic Stem Cells, Hematopoietic System, Hereditary Autoinflammatory Diseases, Humans, Inflammation, Mice, Mutation, Missense, Necroptosis, Osteomyelitis, Protein Kinases

Relation: boreal:253587; http://hdl.handle.net/2078.1/253587; info:pmid/32561755; urn:EISSN:2041-1723

الاتاحة: http://hdl.handle.net/2078.1/253587
https://doi.org/10.1038/s41467-020-16819-z

المؤلفون: Uthoff, Johanna, Larson, Jared, Sato, Takashi S., Hammond, Emily, Schroeder, Kimberly E., Rohret, Frank, Rogers, Christopher S., Quelle, Dawn E., Darbro, Benjamin W., Khanna, Rajesh, Weimer, Jill M., Meyerholz, David K., Sieren, Jessica C.

المساهمون: Univ Arizona, Dept Pharmacol

المصدر: SCIENTIFIC REPORTS

Relation: Uthoff, J., Larson, J., Sato, T.S. et al. Longitudinal phenotype development in a minipig model of neurofibromatosis type 1. Sci Rep 10, 5046 (2020). https://doi.org/10.1038/s41598-020-61251-4; http://hdl.handle.net/10150/657409; SCIENTIFIC REPORTS

الاتاحة: http://hdl.handle.net/10150/657409
https://doi.org/10.1038/s41598-020-61251-4

المؤلفون: Pinnaro, Catherina T., Henry, Travis, Major, Heather J., Parida, Mrutyunjaya, DesJardin, Lucy E., Manak, John R., Darbro, Benjamin W.

المساهمون: University of Iowa, National Institutes of Health

المصدر: Molecular Genetics & Genomic Medicine ; volume 8, issue 1 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.1057
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.1057
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1057
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.1057

المؤلفون: Leary, Steven, Porterfield, Harry S., Kotlarek, Jaclyn R., Darbro, Benjamin W., Sidhu, Alpa

المصدر: Clinical Case Reports ; volume 7, issue 12, page 2393-2397 ; ISSN 2050-0904 2050-0904

الاتاحة: http://dx.doi.org/10.1002/ccr3.2507
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.2507
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ccr3.2507

المؤلفون: Meyerholz, David K., Ofori-Amanfo, Georgina K., Leidinger, Mariah R., Goeken, J. Adam, Khanna, Rajesh, Sieren, Jessica C., Darbro, Benjamin W., Quelle, Dawn E., Weimer, Jill M.

المصدر: Journal of Histochemistry & Cytochemistry ; volume 65, issue 10, page 607-618 ; ISSN 0022-1554 1551-5044

الاتاحة: http://dx.doi.org/10.1369/0022155417729357
http://journals.sagepub.com/doi/pdf/10.1369/0022155417729357
http://journals.sagepub.com/doi/full-xml/10.1369/0022155417729357

المؤلفون: Cox, Allison J., Darbro, Benjamin W., Laxer, Ronald M., Velez, Gabriel, Bing, Xinyu, Finer, Alexis L., Erives, Albert, Mahajan, Vinit B., Bassuk, Alexander G., Ferguson, Polly J.

المساهمون: Mazoyer, Sylvie, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health

المصدر: PLOS ONE ; volume 12, issue 3, page e0169687 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0169687
http://dx.plos.org/10.1371/journal.pone.0169687

المؤلفون: Cox, Allison J., Darbro, Benjamin W., Laxer, Ronald M., Velez, Gabriel, Bing, Xinyu, Finer, Alexis L., Erives, Albert, Mahajan, Vinit B., Bassuk, Alexander G., Ferguson, Polly J.

المصدر: PLOS ONE ; volume 12, issue 7, page e0181222 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0181222
http://dx.plos.org/10.1371/journal.pone.0181222