المؤلفون: Mendelsohn, Bryce A., author, McCarthy, Jeanette J., author

الإتاحة: https://accessmedicine.mhmedical.com/book.aspx?bookid=1930

المؤلفون: Mendelsohn, Bryce A., author

المساهمون: McGraw-Hill Education LLC., publisher

الإتاحة: http://accessmedicine.mhmedical.com/MultimediaPlayer.aspx?MultimediaID=14633371

المؤلفون: Mendelsohn, Bryce A., author

المساهمون: McGraw-Hill Education LLC., publisher

الإتاحة: http://accessmedicine.mhmedical.com/MultimediaPlayer.aspx?MultimediaID=14633375

المؤلفون: Slavotinek, Anne, Rego, Shannon, Sahin-Hodoglugil, Nuriye, Kvale, Mark, Lianoglou, Billie, Yip, Tiffany, Hoban, Hannah, Outram, Simon, Anguiano, Beatrice, Chen, Flavia, Michelson, Jeremy, Cilio, Roberta M, Curry, Cynthia, Gallagher, Renata C, Gardner, Marisa, Kuperman, Rachel, Mendelsohn, Bryce, Sherr, Elliott, Shieh, Joseph, Strober, Jonathan, Tam, Allison, Tenney, Jessica, Weiss, William, Whittle, Amy, Chin, Garrett, Faubel, Amanda, Prasad, Hannah, Mavura, Yusuph, Van Ziffle, Jessica, Devine, W Patrick, Hodoglugil, Ugur, Martin, Pierre-Marie, Sparks, Teresa N, Koenig, Barbara, Ackerman, Sara, Risch, Neil, Kwok, Pui-Yan, Norton, Mary E

المصدر: npj Genomic Medicine. 8(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Perinatal Period - Conditions Originating in Perinatal Period, Human Genome, Pediatric, Medical biotechnology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2gp2s68b

المؤلفون: Slavotinek, Anne^{Aff1, Aff2, IDs41525023003829_cor1}, Rego, Shannon^{Aff1, Aff2}, Sahin-Hodoglugil, Nuriye, Kvale, Mark^{Aff2, Aff3}, Lianoglou, Billie, Yip, Tiffany^{Aff1, Aff2}, Hoban, Hannah, Outram, Simon, Anguiano, Beatrice^{Aff2, Aff5}, Chen, Flavia, Michelson, Jeremy, Cilio, Roberta M., Curry, Cynthia, Gallagher, Renata C.^{Aff1, Aff2}, Gardner, Marisa, Kuperman, Rachel^{Aff9, Aff10}, Mendelsohn, Bryce, Sherr, Elliott, Shieh, Joseph^{Aff1, Aff2}, Strober, Jonathan, Tam, Allison, Tenney, Jessica, Weiss, William, Whittle, Amy, Chin, Garrett, Faubel, Amanda, Prasad, Hannah, Mavura, Yusuph^{Aff2, Aff3}, Van Ziffle, Jessica, Devine, W. Patrick, Hodoglugil, Ugur, Martin, Pierre-Marie, Sparks, Teresa N.^{Aff2, Aff17}, Koenig, Barbara^{Aff2, Aff18}, Ackerman, Sara^{Aff5, Aff19}, Risch, Neil^{Aff2, Aff3}, Kwok, Pui-Yan, Norton, Mary E.^{Aff2, Aff17}

المصدر: npj Genomic Medicine. 8(1)

المؤلفون: Grant, Nathan, Sohn, Young Bae, Ellinwood, N Matthew, Okenfuss, Ericka, Mendelsohn, Bryce A, Lynch, Leslie E, Braunlin, Elizabeth A, Harmatz, Paul R, Eisengart, Julie B

مصطلحات موضوعية: Intellectual and Developmental Disabilities (IDD), Clinical Research, Behavioral and Social Science, Rare Diseases, Brain Disorders, Pediatric, Mental health, Newborn screening, Mucopolysaccharidosis type II, Hunter syndrome, Enzyme replacement therapy, Early intervention, Sibling study, ABR, Auditory brainstem response, CNS, central nervous system, DAS-II, Differential Ability Scales, Second Edition, ERT, enzyme replacement therapy, GAG, glycosaminoglycan, HCT, hematopoietic cell transplantation, IDS, iduronate-2-sulphatase, IT, intrathecal, MPS II, mucopolysaccharidosis type II, Hunter syndrome, MPS, mucopolysaccharidosis, MRI, magnetic resonance imaging, NBS, newborn screening, RUSP, Recommended Uniform Screening Panel, Biochemistry and Cell Biology, Genetics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/20p620zv

المؤلفون: Shieh, Joseph T, Penon-Portmann, Monica, Wong, Karen HY, Levy-Sakin, Michal, Verghese, Michelle, Slavotinek, Anne, Gallagher, Renata C, Mendelsohn, Bryce A, Tenney, Jessica, Beleford, Daniah, Perry, Hazel, Chow, Stephen K, Sharo, Andrew G, Brenner, Steven E, Qi, Zhongxia, Yu, Jingwei, Klein, Ophir D, Martin, David, Kwok, Pui-Yan, Boffelli, Dario

المصدر: NPJ genomic medicine. 6(1)

مصطلحات موضوعية: Human Genome, Genetics, Genetic Testing, Prevention, 4.1 Discovery and preclinical testing of markers and technologies, 4.2 Evaluation of markers and technologies

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8xw3j9km

المؤلفون: Bennett, Neal K, Nguyen, Mai K, Darch, Maxwell A, Nakaoka, Hiroki J, Cousineau, Derek, Ten Hoeve, Johanna, Graeber, Thomas G, Schuelke, Markus, Maltepe, Emin, Kampmann, Martin, Mendelsohn, Bryce A, Nakamura, Jean L, Nakamura, Ken

المصدر: Nature communications. 11(1)

مصطلحات موضوعية: Cell Line, K562 Cells, Mitochondria, Fibroblasts, Humans, Hexokinase, Glucose, Adenosine Triphosphate, Gene Expression Regulation, Energy Metabolism, Glycolysis, Point Mutation, Female, Pentose Phosphate Pathway, Metabolic Networks and Pathways, Metabolomics, Gene Knockdown Techniques, CRISPR-Cas Systems

URL الوصول: https://escholarship.org/uc/item/5113n5s0

المؤلفون: Mendelsohn, Bryce A, Beleford, Daniah T, Abu‐El‐Haija, Aya, Alsaleh, Norah S, Rahbeeni, Zuhair, Martin, Pierre‐Marie, Rego, Shannon, Huang, Alyssa, Capodanno, Gina, Shieh, Joseph T, Van Ziffle, Jessica, Risch, Neil, Alkuraya, Fowzan S, Slavotinek, Anne M

المصدر: American Journal of Medical Genetics Part A. 182(3)

مصطلحات موضوعية: Pediatric, Rare Diseases, Brain Disorders, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Association Studies, Genetic Diseases, X-Linked, Genetic Predisposition to Disease, Humans, Male, Mutation, Trichothiodystrophy Syndromes, X Chromosome Inactivation, RNF113A, spliceosome, trichothiodystrophy, zinc finger, RNF113A, Genetics, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/17b4j483

المؤلفون: Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Jr., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, Weksberg, Rosanna

المصدر: In The American Journal of Human Genetics 6 October 2022 109(10):1867-1884