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1دورية أكاديمية
المؤلفون: Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj
المصدر: HGG Advances, Vol 4, Iss 1, Pp 100168- (2023)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Hsin-Ti Lin, Yazmin Enchautegui-Colon, Yu-Ren Huang, Chelsea Zimmerman, Danielle DeMarzo, Anne Chun-Hui Tsai
المصدر: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100942- (2022)
مصطلحات موضوعية: Carbamoyl phosphate synthetase 1 deficiency, Urea cycle disorder, Nacetylglutamate synthetase deficiency, Hyperammonemia, Glutamine, Alphaketoglutarate, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj
المصدر: HGG Advances, Vol 3, Iss 3, Pp 100102- (2022)
مصطلحات موضوعية: PHF8, X-linked intellectual disability, orofacial clefting, epigenetic gene regulation, histone demethylation, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Anne Chun-Hui Tsai, Hsin-Ti Lin, Maxwell Chou, Jessica Bolen, Chelsea Zimmerman, Danielle DeMarzo, Yazmin Enchautegui-Colon
المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100859- (2022)
مصطلحات موضوعية: Isovaleric acidemia, Hyperammonemia, Carglumic acid, Ammonul, Bone marrow suppression, Granulocyte-colony stimulating factor, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Anne Chun Miao Wong, Rainbow Tin Hung Ho
المصدر: International Journal of Qualitative Methods, Vol 21 (2022)
مصطلحات موضوعية: Social sciences (General), H1-99
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1609-4069
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6دورية أكاديمية
المؤلفون: Preneet Cheema Brar, Anne Chun, Xiazhou Fan, Vivek Jani, Mary Craft, Puneet Bhatla, Shelby Kutty
المصدر: Cardiovascular Diabetology, Vol 18, Iss 1, Pp 1-11 (2019)
مصطلحات موضوعية: Obesity, Abnormal glucose tolerance, Longitudinal and circumferential strain and strain rate, Ventricular vascular coupling, Two-dimensional speckle-tracking echocardiography, Echocardiography, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1475-2840
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7دورية أكاديمية
المؤلفون: Wu, Chen-Han WilfredAff1, IDs0024002301473z_cor1, Badreddine, Jad, Chang, Joshua, Huang, Yu-Ren Mike, Kim, Fernando J., Wild, Trevor, Tsai, Anne Chun-Hui, Meeks, Naomi, Donalisio Da Silva, Rodrigo, Molina, Wilson R., Schumacher, Fredrick R.
المصدر: Urolithiasis. 51(1)
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8دورية أكاديمية
المؤلفون: Norris, Gregory A., Tsai, Anne Chun-hui, Schneider, Kami Wolfe, Wu, Yuan-Haw, Caulfield, Thomas, Green, Adam L.
المصدر: In Cancer Genetics June 2021 254-255:18-24
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9دورية أكاديمية
المؤلفون: Malinowski, Jennifer, Miller, David T., Demmer, Laurie, Gannon, JenniferAff4, Aff5, Pereira, Elaine Maria, Schroeder, Molly C., Scheuner, Maren T.Aff8, Aff9, Tsai, Anne Chun-Hui, Hickey, Scott E., Shen, Jun,
Aff13 المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(6):986-1004
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10دورية أكاديمية
المؤلفون: Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Curry, Cynthia J, Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M, Hedera, Peter, Hennekam, Raoul CM, Hersh, Joseph H, Hopkin, Robert J, Kayserili, Hülya, Kidd, Alexa MJ, Kimonis, Virginia, Lin, Angela E, Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H, Rope, Alan F, Rosenbaum, Kenneth N, Schaefer, G Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J, Steiner, Bernhard, Stephan, Mark J, Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun‐Hui, Van Allen, Margot I, Vasudevan, Pradeep C, Zabel, Bernhard, Zunich, Janice, Black, Graeme CM, Biesecker, Leslie G
المصدر: Human Mutation. 31(10)
مصطلحات موضوعية: Genetics, Dental/Oral and Craniofacial Disease, Pediatric, Clinical Research, Rare Diseases, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Craniofacial Abnormalities, Genotype, Humans, Kruppel-Like Transcription Factors, Mouth Abnormalities, Mutation, Nerve Tissue Proteins, Pallister-Hall Syndrome, Phenotype, Polydactyly, Syndactyly, Zinc Finger Protein Gli3, GLI3, Greig syndrome, Pallister-Hall syndrome, oral-facial-digital syndrome, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6z17j09n