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1دورية أكاديمية
المؤلفون: Chelsi Rose, Elizabeth Mizerik, Nichole Owen, Casey Thornton, Chaya Murali, Lorraine Potocki
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101183- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Blake Vuocolo, Ryan German, Carlos Bacino, Chaya Murali, Seema Lalani, Stephanie Baskin, Elizabeth Roeder, Carrie Schmid, Scott McLean, Rebecca Littlejohn, Olivia Juarez, Melissa Stuebben, Liesbeth Vossaert, Nichole Owen, Christine Eng, Pengfei Liu, Zhandong Liu, Dongxue Mao, Seon Young Kim, Sasidhar Pasupuleti, Shinya Yamamoto, Hugo Bellen, Michael Wangler
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101394- (2024)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Casey Thornton, Elizabeth Mizerik, Dan Brooks, Chaya Murali, Christian Parobek, Lorraine Potocki, Pengfei Liu, Nichole Owen, Liesbeth Vossaert
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100620- (2023)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Chaya Murali, James T. Lu, Mahim Jain, David S. Liu, Ralph Lachman, Richard A. Gibbs, Brendan H. Lee, Daniel Cohn, Philippe M. Campeau
المصدر: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 213-219 (2014)
مصطلحات موضوعية: Congenital Disorder of Glycosylation, ALG12, CDG-Ig, ALG12-CDG, Severe skeletal dysplasia, Whole exome sequencing, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5
المؤلفون: Chaya Murali, Claudia Soler-Alfonso, Kathleen Loomes, Amit Shah, Danielle Monteil, Carmencita Padilla, Fernando Scaglia, Rebecca Ganetzky
المصدر: Molecular Genetics and Metabolism. 132:S13-S14
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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6
المؤلفون: Tania M. Larrinaga, Livija Medne, Chrystalle Katte Carreon, Justin H. Berger, Christopher T. Pappas, Chaya Murali, Ian D. Krantz, Kimberly Y. Lin, Carol C. Gregorio, Gerrie P. Farman, Alyssa Ritter, Rebecca C. Ahrens-Nicklas, Rachel M. Mayfield, Sabrina W. Yum
المصدر: Science Advances. 5
مصطلحات موضوعية: Gene isoform, 0303 health sciences, Mutation, Pathology, medicine.medical_specialty, Multidisciplinary, business.industry, Cardiomyopathy, Dilated cardiomyopathy, macromolecular substances, medicine.disease_cause, medicine.disease, 3. Good health, Transplantation, Protein filament, 03 medical and health sciences, 0302 clinical medicine, cardiovascular system, medicine, business, 030217 neurology & neurosurgery, Exome sequencing, Actin, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6d29182e56d3c3442dab96a65dba5913
https://doi.org/10.1126/sciadv.aax2066 -
7
المؤلفون: Rebecca C, Ahrens-Nicklas, Christopher T, Pappas, Gerrie P, Farman, Rachel M, Mayfield, Tania M, Larrinaga, Livija, Medne, Alyssa, Ritter, Ian D, Krantz, Chaya, Murali, Kimberly Y, Lin, Justin H, Berger, Sabrina W, Yum, Chrystalle Katte, Carreon, Carol C, Gregorio
المصدر: Science Advances
مصطلحات موضوعية: Cardiomyopathy, Dilated, Male, Myocardium, Infant, Newborn, Infant, Muscle Proteins, SciAdv r-articles, Diseases and Disorders, Mice, Mutant Strains, Actin Cytoskeleton, Cytoskeletal Proteins, Mice, Codon, Nonsense, Animals, Humans, Female, Research Articles, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::4d2ef4fb663226e8210f7bcb5b055b3f
https://pubmed.ncbi.nlm.nih.gov/31517052 -
8
المؤلفون: Sarah E. Ratzel, Naxhiely Martínez Ramón, Sarah E. Christensen, Matthew J. Lingard, Bonnie Bartel, Melanie Monroe-Augustus, Chaya Murali
المصدر: Plant molecular biology. 77(1-2)
مصطلحات موضوعية: Arabidopsis, Peroxin, Plant Science, Article, Genetics, Peroxisomes, RNA, Messenger, Peroxisomal targeting signal, Alleles, biology, Peroxisomal matrix, Arabidopsis Proteins, fungi, Membrane Proteins, General Medicine, Peroxisome, biology.organism_classification, Reverse genetics, Transport protein, Repressor Proteins, Protein Transport, Biochemistry, Membrane protein, Mutation, Agronomy and Crop Science