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

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

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

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

الإتاحة: https://doi.org/10.1101/2024.02.05.578995Test
https://hdl.handle.net/1805/41591Test

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

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

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

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

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

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