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: 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