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1دورية أكاديمية
المؤلفون: Kyra L. Feuer, Marah H. Wahbeh, Christian Yovo, Eman Rabie, Anh-Thu N. Lam, Sara Abdollahi, Lindsay J. Young, Bailey Rike, Akul Umamageswaran, Dimitrios Avramopoulos
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-4 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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2دورية أكاديمية
المؤلفون: Anh-Thu N. Lam, Xi Peng, Debamitra Das, Joel S. Bader, Dimitrios Avramopoulos
المصدر: Data in Brief, Vol 35, Iss , Pp 106897- (2021)
مصطلحات موضوعية: Schizophrenia, Clozapine, Cholesterol metabolism, Antipsychotics, Gene expression, Transcriptome, Computer applications to medicine. Medical informatics, R858-859.7, Science (General), Q1-390
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Neeraj Sharma, Taylor A Evans, Matthew J Pellicore, Emily Davis, Melis A Aksit, Allison F McCague, Anya T Joynt, Zhongzhu Lu, Sangwoo T Han, Arianna F Anzmann, Anh-Thu N Lam, Abigail Thaxton, Natalie West, Christian Merlo, Laura B Gottschalk, Karen S Raraigh, Patrick R Sosnay, Calvin U Cotton, Garry R Cutting
المصدر: PLoS Genetics, Vol 14, Iss 11, p e1007723 (2018)
وصف الملف: electronic resource
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4Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis
المؤلفون: Melis A. Aksit, Hua Ling, Rhonda G. Pace, Karen S. Raraigh, Frankline Onchiri, Anna V. Faino, Kymberleigh Pagel, Elizabeth Pugh, Adrienne M. Stilp, Quan Sun, Elizabeth E. Blue, Fred A. Wright, Yi-Hui Zhou, Michael J. Bamshad, Ronald L. Gibson, Michael R. Knowles, Garry R. Cutting, Scott M. Blackman, Elizabeth Blue, Kati Buckingham, Jessica X. Chong, J. Michael Collaco, Hong Dang, Alice Eastman, Anna Faino, Paul J. Gallins, Ronald Gibson, Beth Godwin, William W. Gordon, Kurt Hetrick, Le Huang, Anh-Thu N. Lam, Weifang Liu, Yun Li, Wanda K. O'Neal, Mark Porter, Rebekah Mikeasky, Margaret Rosenfeld, Jonathan Rosen, Adrienne Stilp, Jaclyn R. Stonebraker, Jia Wen, Yingxi Yang, Peng Zhang, Yan Zhang
المصدر: Am J Hum Genet
مصطلحات موضوعية: Cystic Fibrosis, Genetics, Diabetes Mellitus, Infant, Newborn, Cystic Fibrosis Transmembrane Conductance Regulator, Humans, Genetics (clinical), Infant, Newborn, Diseases, Intestinal Obstruction, Article, Genome-Wide Association Study
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d09c34d6790eb0f5198d0a02cc3acfb
https://pubmed.ncbi.nlm.nih.gov/36206743 -
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المؤلفون: Anh Thu N. Lam, Sarah Servattalab, Michael E. Greenberg, R. Sean Hill, Bhaven K. Mehta, Timothy W. Yu, Guzman Sanchez-Schmitz, Kyriacos Markianos, Klaus Schmitz-Abe, Ryan N. Doan, Maria H. Chahrour, Bulent Ataman, Christopher A. Walsh, Eric M. Morrow
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
Scientific Reportsمصطلحات موضوعية: 0301 basic medicine, Male, DNA Copy Number Variations, Autism Spectrum Disorder, lcsh:Medicine, Biology, ENCODE, Article, Epigenesis, Genetic, 03 medical and health sciences, Exon, 0302 clinical medicine, mental disorders, medicine, Humans, Genetic Predisposition to Disease, Copy-number variation, Epigenetics, lcsh:Science, Epigenomics, Regulation of gene expression, Genetics, Multidisciplinary, Homozygote, lcsh:R, medicine.disease, Gene regulation, 030104 developmental biology, Autism spectrum disorder, Computational neuroscience, Human genome, Female, lcsh:Q, 030217 neurology & neurosurgery, Gene Deletion
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المؤلفون: Alice C. Eastman, Garry R. Cutting, Scott M. Blackman, Rhonda G. Pace, Briana Vecchio-Pagan, Wanda K. O'Neal, Michael R. Knowles, Hong Dang, Anh Thu N. Lam, Melis Atalar Aksit
المصدر: J Cyst Fibros
مصطلحات موضوعية: 0301 basic medicine, Pulmonary and Respiratory Medicine, Oncology, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Cystic Fibrosis, Genotype, Cystic Fibrosis Transmembrane Conductance Regulator, Quinolones, Aminophenols, Cystic fibrosis, Polymorphism, Single Nucleotide, Severity of Illness Index, Article, Antiporters, Ivacaftor, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Pharmacotherapy, Internal medicine, Medicine, SNP, Humans, Prospective Studies, Lung function, business.industry, medicine.disease, Respiratory Function Tests, 030104 developmental biology, 030228 respiratory system, Lung disease, Sulfate Transporters, Pediatrics, Perinatology and Child Health, Female, business, Cftr modulator, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::114b113925a45e51523a6a00f53fa3d5
https://europepmc.org/articles/PMC8410892/ -
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المؤلفون: Marah H. Wahbeh, Kyra L. Feuer, Christian Yovo, Eman Rabie, Anh-Thu N. Lam, Sara Abdollahi, Lindsay J. Young, Bailey Rike, Akul Umamageswaran, Dimitrios Avramopoulos
مصطلحات موضوعية: Gene Editing, Multidisciplinary, Genome, Human, Computer science, Cas9, Induced Pluripotent Stem Cells, Computational biology, Pipeline (software), DNA sequencing, Human disease, Genome editing, Humans, CRISPR, Clustered Regularly Interspaced Short Palindromic Repeats, Clone (computing), CRISPR-Cas Systems, Selection (genetic algorithm)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97643a0c4d0014ba815ca67bf0023d49
https://doi.org/10.1101/2021.01.18.427163 -
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المؤلفون: Debamitra Das, Joel S. Bader, Dimitrios Avramopoulos, Xi Peng, Anh Thu N. Lam
المصدر: Data in Brief
Data in Brief, Vol 35, Iss, Pp 106897-(2021)مصطلحات موضوعية: Science (General), Computer applications to medicine. Medical informatics, R858-859.7, Biology, Pharmacology, Transcriptome, Q1-390, 03 medical and health sciences, Glutamatergic, 0302 clinical medicine, Gene expression, medicine, Cholesterol metabolism, Antipsychotics, Clozapine, Gene, Data Article, 030304 developmental biology, 0303 health sciences, Multidisciplinary, RNA, Ribosomal RNA, medicine.anatomical_structure, Schizophrenia, Neuron, 030217 neurology & neurosurgery, medicine.drug
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المؤلفون: Rajni Chibbar, Ganeshwaran H. Mochida, A. James Barkovich, Ulrich Tschulena, Jun Shen, R. Sean Hill, Gilad D. Evrony, Antonella Galli, Chloe Santos, Danielle Tierney, Sheldon Wiebe, M. Jocelyne Martel, Christopher A. Walsh, Jillian M. Richardson, Divya Jayaraman, Betty Anne Spooner, Patricia Blakley, Steven C. Ryu, Stefan Wiemann, Dianne Gerrelli, Dana Diudea, Michael E. Coulter, Timothy W. Yu, James Irvine, Edmond G. Lemire, Victoria Morrison, Rebecca D. Folkerth, Princess C. Elhosary, Diana G. Diaz, Anh Thu N. Lam, Rachel E. Rodin, Dwight R. Cordero, Christopher A. Robinson, Jennifer N. Partlow
المصدر: Genome Research. 27:1323-1335
مصطلحات موضوعية: 0301 basic medicine, Genetics, Cancer genome sequencing, Whole genome sequencing, Genome evolution, Genome project, Biology, Bioinformatics, Genome, DNA sequencing, 03 medical and health sciences, 030104 developmental biology, Gene, Genetics (clinical), Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0a54f506629ee09ca150b18a609e5925
https://doi.org/10.1101/gr.219899.116 -
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المؤلفون: Susan E. Stanley, Matthew J. Pellicore, Melis Atalar, Sara E. Khalil, Anh Thu N. Lam, Taylor A. Evans, George M. Solomon, Neeraj Sharma, Briana Vecchio-Pagan, Emily Davis, Garry R. Cutting, Doug Walker, Mary Armanios, Melissa Lee, Karen S. Raraigh, Patrick Roos
المصدر: The American Journal of Human Genetics. 100:751-765
مصطلحات موضوعية: 0301 basic medicine, Support Vector Machine, Cystic Fibrosis, RNA Splicing, Mutation, Missense, Cystic Fibrosis Transmembrane Conductance Regulator, Cell Cycle Proteins, Biology, Article, Dyskeratosis Congenita, 03 medical and health sciences, Genetics, medicine, Humans, splice, Gene, Genetics (clinical), Sequence (medicine), Alternative splicing, Computational Biology, Genetic Variation, Nuclear Proteins, Exons, Genomics, Sequence Analysis, DNA, medicine.disease, Introns, HEK293 Cells, 030104 developmental biology, Gene Expression Regulation, Genetic Loci, RNA splicing, RNA Splice Sites, Algorithms, Dyskeratosis congenita, Reference genome, Minigene