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1دورية أكاديمية
المؤلفون: Mavura, Yusuph, Sahin-Hodoglugil, Nuriye, Hodoglugil, Ugur, Kvale, Mark, Martin, Pierre-Marie, Van Ziffle, Jessica, Devine, W Patrick, Ackerman, Sara L, Koenig, Barbara A, Kwok, Pui-Yan, Norton, Mary E, Slavotinek, Anne, Risch, Neil
المصدر: npj Genomic Medicine. 9(1)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Pediatric, Medical biotechnology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5js1c05xTest
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2دورية أكاديمية
المؤلفون: Williams, Erik A, Ravindranathan, Ajay, Gupta, Rohit, Stevers, Nicholas O, Suwala, Abigail K, Hong, Chibo, Kim, Somang, Yuan, Jimmy Bo, Wu, Jasper, Barreto, Jairo, Lucas, Calixto-Hope G, Chan, Emily, Pekmezci, Melike, LeBoit, Philip E, Mully, Thaddeus, Perry, Arie, Bollen, Andrew, Van Ziffle, Jessica, Devine, W Patrick, Reddy, Alyssa T, Gupta, Nalin, Basnet, Kristen M, Macaulay, Robert JB, Malafronte, Patrick, Lee, Han, Yong, William H, Williams, Kevin Jon, Juratli, Tareq A, Mata, Douglas A, Huang, Richard SP, Hiemenz, Matthew C, Pavlick, Dean C, Frampton, Garrett M, Janovitz, Tyler, Ross, Jeffrey S, Chang, Susan M, Berger, Mitchel S, Jacques, Line, Song, Jun S, Costello, Joseph F, Solomon, David A
المصدر: Neuro-Oncology. 25(12)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Pediatric, Cancer, Human Genome, Neurosciences, Biotechnology, Genetics, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Humans, INDEL Mutation, Transcriptional Activation, Neurilemmoma, Neuroma, Acoustic, Mutation, Nerve Sheath Neoplasms, SOXE Transcription Factors, myelination, PMP2, Schwann cell, schwannoma, SOX10, Oncology and Carcinogenesis, Oncology & Carcinogenesis, Oncology and carcinogenesis
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6zq333xtTest
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3دورية أكاديمية
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
الوصول الحر: https://escholarship.org/uc/item/2gp2s68bTest
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4دورية أكاديمية
المؤلفون: Kathiriya, Irfan S., Dominguez, Martin H., Rao, Kavitha S., Muncie-Vasic, Jonathon M., Devine, W. Patrick, Hu, Kevin M., Hota, Swetansu K., Garay, Bayardo I., Quintero, Diego, Goyal, Piyush, Matthews, Megan N., Thomas, Reuben, Sukonnik, Tatyana, Miguel-Perez, Dario, Winchester, Sarah, Brower, Emily F., Forjaz, André, Wu, Pei-Hsun, Wirtz, Denis, Kiemen, Ashley L., Bruneau, Benoit G.
المساهمون: Pediatrics, School of Medicine
المصدر: PMC
مصطلحات موضوعية: Interventricular septum (IVS), Congenital heart defect (CHD), Cardiac birth defects
وصف الملف: application/pdf
العلاقة: Kathiriya IS, Dominguez MH, Rao KS, et al. A disrupted compartment boundary underlies abnormal cardiac patterning and congenital heart defects. Preprint. bioRxiv. 2024;2024.02.05.578995. Published 2024 Mar 4. doi:10.1101/2024.02.05.578995; https://hdl.handle.net/1805/41591Test
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5دورية أكاديمية
المؤلفون: Norton, Mary E, Ziffle, Jessica Van, Lianoglou, Billie R, Hodoglugil, Ugur, Devine, W Patrick, Sparks, Teresa N
المصدر: American Journal of Obstetrics and Gynecology. 226(1)
مصطلحات موضوعية: Genetics, Clinical Research, Pediatric, Human Genome, Biotechnology, Genetic Testing, Rare Diseases, Aetiology, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, Good Health and Well Being, Adult, Cohort Studies, Female, Gestational Age, High-Throughput Nucleotide Sequencing, Humans, Hydrops Fetalis, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, Exome Sequencing, exome sequencing, nonimmune hydrops, RASopathy, targeted gene panels, Paediatrics and Reproductive Medicine, Obstetrics & Reproductive Medicine
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1qf7b9phTest
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6دورية أكاديمية
المؤلفون: Kathiriya, Irfan S, Rao, Kavitha S, Iacono, Giovanni, Devine, W Patrick, Blair, Andrew P, Hota, Swetansu K, Lai, Michael H, Garay, Bayardo I, Thomas, Reuben, Gong, Henry Z, Wasson, Lauren K, Goyal, Piyush, Sukonnik, Tatyana, Hu, Kevin M, Akgun, Gunes A, Bernard, Laure D, Akerberg, Brynn N, Gu, Fei, Li, Kai, Speir, Matthew L, Haeussler, Maximilian, Pu, William T, Stuart, Joshua M, Seidman, Christine E, Seidman, JG, Heyn, Holger, Bruneau, Benoit G
المصدر: Developmental cell. 56(3)
مصطلحات موضوعية: Heart Ventricles, Myocytes, Cardiac, Animals, Humans, Mice, Heart Defects, Congenital, T-Box Domain Proteins, Cell Differentiation, Transcription, Genetic, Body Patterning, Gene Dosage, Mutation, Models, Biological, Gene Regulatory Networks, Haploinsufficiency, MEF2 Transcription Factors, cardiomyocyte differentiation, congenital heart disease, disease modeling, gene dosage, gene regulation, gene regulatory networks, haploinsufficiency, human induced pluripotent stem cells, single cell transcriptomics, transcription factor, Heart Disease - Coronary Heart Disease, Cardiovascular, Genetics, Human Genome, Stem Cell Research, Heart Disease, Congenital Structural Anomalies, Pediatric, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Underpinning research, Biological Sciences, Medical and Health Sciences, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0ws080ncTest
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7دورية أكاديمية
المؤلفون: Afshar, Armin R, Pekmezci, Melike, Bloomer, Michele M, Cadenas, Nicola J, Stevers, Meredith, Banerjee, Anuradha, Roy, Ritu, Olshen, Adam B, Van Ziffle, Jessica, Onodera, Courtney, Devine, W Patrick, Grenert, James P, Bastian, Boris C, Solomon, David A, Damato, Bertil E
المصدر: Ophthalmology. 127(6)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Neurosciences, Rare Diseases, Genetics, Clinical Research, Pediatric, Pediatric Cancer, Pediatric Research Initiative, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, DNA, Neoplasm, Eye Enucleation, Female, Gene Silencing, Germ-Line Mutation, High-Throughput Nucleotide Sequencing, Humans, Infant, Male, Paraffin Embedding, Retinal Neoplasms, Retinoblastoma, Retinoblastoma Binding Proteins, Tissue Fixation, Ubiquitin-Protein Ligases, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services, Ophthalmology & Optometry, Ophthalmology and optometry
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/69x937mnTest
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8دورية أكاديمية
المؤلفون: Pfeil, Jacob, Sanders, Lauren M, Anastopoulos, Ioannis, Lyle, A Geoffrey, Weinstein, Alana S, Xue, Yuanqing, Blair, Andrew, Beale, Holly C, Lee, Alex, Leung, Stanley G, Dinh, Phuong T, Shah, Avanthi Tayi, Breese, Marcus R, Devine, W Patrick, Bjork, Isabel, Salama, Sofie R, Sweet-Cordero, E Alejandro, Haussler, David, Vaske, Olena Morozova
المصدر: PLoS computational biology. 16(4)
مصطلحات موضوعية: Humans, Neoplasms, Neuroblastoma, Cluster Analysis, Models, Statistical, Gene Expression Profiling, Computational Biology, Gene Expression Regulation, Neoplastic, Child, Tumor Microenvironment, Transcriptome, Biomarkers, Tumor, Precision Medicine, Models, Statistical, Gene Expression Regulation, Neoplastic, Biomarkers, Tumor, Bioinformatics, Mathematical Sciences, Biological Sciences, Information and Computing Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4fp081x6Test
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9دورية أكاديمية
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 ; volume 8, issue 1 ; ISSN 2056-7944
مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1038/s41525-023-00382-9Test
https://www.nature.com/articles/s41525-023-00382-9.pdfTest
https://www.nature.com/articles/s41525-023-00382-9Test -
10دورية أكاديمية
المؤلفون: Sparks, Teresa, Lianoglou, Billie, Sahin-Holodlugil, Nuriye, Kvale, Mark, Van Ziffle, Jessica, Devine, W. Patrick, Hodoglugil, Ugur, Martin, Pierre-Marie, Koenig, Barbara, Kwok, Pui-Yan, Ackerman, Sara, Slavotinek, Anne, Risch, Neil, Norton, Mary
المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100648 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2023.100648Test
https://api.elsevier.com/content/article/PII:S2949774423006489?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423006489?httpAccept=text/plainTest