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المؤلفون: Jacinta Lucero, Alexander J. Trostle, Laura A. Lavery, Kerstin Ure, Chongyuan Luo, Margaret A. Goodell, Joseph R. Ecker, Mark A Durham, Wei Wang, Joanna Lopez, Joseph R. Nery, Rosa Castanon, Zhandong Liu, Ying-Wooi Wan, Huda Y. Zoghbi, M. Margarita Behrens
مصطلحات موضوعية: Regulation of gene expression, 0303 health sciences, congenital, hereditary, and neonatal diseases and abnormalities, Rett syndrome, Methylation, Biology, respiratory system, medicine.disease, DNA methyltransferase, MECP2, Cell biology, nervous system diseases, 03 medical and health sciences, 0302 clinical medicine, embryonic structures, medicine, GABAergic, Epigenetics, Gene, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a18e9faae4693e5a218c79e8e8114f09Test
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المؤلفون: Yongsheng Bai, Amol C. Shetty, Jennifer M. Skidmore, James D. Cavalcoli, Kajari Mondal, Julie B Kaplan, Anthony Antonellis, Charles E. Schwartz, Mark A. Durham, Jun Li, Jirair K. Bedoyan, Cindy Skinner, Valerie M. Schaibley, Donna M. Martin, Michael E. Zwick, Arti Dhiraaj, Joseph A. Micucci, Weiping Peng
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: Male, DNA Mutational Analysis, Xenopus, GTPase, medicine.disease_cause, genome-wide, Mice, 0302 clinical medicine, Chlorocebus aethiops, Missense mutation, guidelines, Zebrafish, Genetics (clinical), Genetics, 0303 health sciences, Mutation, Massive parallel sequencing, Developmental Defects, Genetic Diseases, X-Linked, Syndrome, Pedigree, Organ Specificity, COS Cells, Female, medicine.symptom, microarray, Adult, Primates, genetic epidemiology, Blotting, Western, Green Fluorescent Proteins, Molecular Sequence Data, Mutation, Missense, Biology, Short stature, Mitochondrial Proteins, complex traits, 03 medical and health sciences, Fetus, copy-number, medicine, Animals, Humans, developmental, chromosomal, Gene, 030304 developmental biology, Base Sequence, epigenetics, academic medicine, Sequence Analysis, DNA, biology.organism_classification, Spectrometry, Fluorescence, molecular genetics, ras Proteins, clinical genetics, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47ecb6666e066bf3ceddce20b0c2279fTest
https://doi.org/10.1136/jmedgenet-2011-100575Test