المؤلفون: Kunjan Patel, Arnaud P Giese, J M Grossheim, Rashmi S Hegde, Maria Delio, Joy Samanich, Saima Riazuddin, Gregory I Frolenkov, Jinlu Cai, Zubair M Ahmed, Bernice E Morrow

المصدر: PLoS ONE, Vol 10, Iss 10, p e0141259 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4608585?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/30a149114bd04a568cf6c7798c792084Test

المؤلفون: Kunjan Patel, Arnaud P Giese, J M Grossheim, Rashmi S Hegde, Maria Delio, Joy Samanich, Saima Riazuddin, Gregory I Frolenkov, Jinlu Cai, Zubair M Ahmed, Bernice E Morrow

المصدر: PLoS ONE, Vol 10, Iss 10, p e0133082 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4591343?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/7c25e98ab1604238ab40b31e9ec90e09Test

المؤلفون: Hitisha P Zaveri, Tyler F Beck, Andrés Hernández-García, Katharine E Shelly, Tara Montgomery, Arie van Haeringen, Britt-Marie Anderlid, Chirag Patel, Himanshu Goel, Gunnar Houge, Bernice E Morrow, Sau Wai Cheung, Seema R Lalani, Daryl A Scott

المصدر: PLoS ONE, Vol 9, Iss 1, p e85600 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3893250?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/f551f67946cd4954b0d765b122d97303Test

المؤلفون: Raquel Castellanos, Qing Xie, Deyou Zheng, Ales Cvekl, Bernice E Morrow

المصدر: PLoS ONE, Vol 9, Iss 5, p e95151 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4010391?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/91fe0fc9be33415b871f93795c6d1293Test

المؤلفون: Anshuman Sewda, A J Agopian, Elizabeth Goldmuntz, Hakon Hakonarson, Bernice E Morrow, Deanne Taylor, Laura E Mitchell, Pediatric Cardiac Genomics Consortium

المساهمون: Winlaw, David Scott

المصدر: PLoS ONE, Vol 14, Iss 7, p e0219926 (2019)
PloS one, vol 14, iss 7
PLoS ONE

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Organogenesis, Genome-wide association study, 030204 cardiovascular system & hematology, Cardiovascular, Pediatrics, chemistry.chemical_compound, Congenital, Mathematical and Statistical Techniques, 0302 clinical medicine, Databases, Genetic, Medicine and Health Sciences, MBNL1, 2.1 Biological and endogenous factors, Aetiology, Heart Defects, Genetics, Pediatric, Coding Mechanisms, Multidisciplinary, Heart development, NDUFS1, Statistics, Heart, Genomics, Metaanalysis, 3. Good health, Phenotypes, Heart Disease, Physical Sciences, Heart Development, Medicine, Female, Anatomy, Research Article, Biotechnology, Heart Defects, Congenital, General Science & Technology, Science, Biology, Research and Analysis Methods, Conotruncal heart defects, 03 medical and health sciences, Databases, Genetic, Genome-Wide Association Studies, Humans, Genetic Predisposition to Disease, Statistical Methods, Gene, Alleles, Genetic association, Computational Neuroscience, Human Genome, Biology and Life Sciences, Computational Biology, Human Genetics, Molecular Sequence Annotation, Genome Analysis, Pediatric Cardiac Genomics Consortium, 030104 developmental biology, chemistry, Cardiovascular Anatomy, Organism Development, Mathematics, Neuroscience, Developmental Biology, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df03eeb08ea8e0fd4c24ef74fba55de3Test
https://doaj.org/article/3151f7ca816e4d1980ccf5483f189e16Test

المؤلفون: A. J. Agopian, Deanne Taylor, Bernice E. Morrow, Fadi I Musfee, Anshuman Sewda, Elizabeth Goldmuntz, Hakon Hakonarson, Laura E. Mitchell

المصدر: PLoS ONE, Vol 15, Iss 6, p e0234357 (2020)
PLoS ONE

مصطلحات موضوعية: Male, 0301 basic medicine, Embryology, Blood Pressure, Genome-wide association study, 030105 genetics & heredity, Bioinformatics, Vascular Medicine, Genome, Motor Neuron Diseases, Mathematical and Statistical Techniques, Pregnancy, Risk Factors, Animal Cells, Medicine and Health Sciences, Morphogenesis, Brain Mapping, Multidisciplinary, Statistics, Maternal effect, Magnetoencephalography, Neurodegenerative Diseases, Genomics, Middle Aged, Metaanalysis, Neurology, Maternal Exposure, Child, Preschool, Prenatal Exposure Delayed Effects, OVA, Hypertension, Physical Sciences, Medicine, Female, Maternal Inheritance, Cellular Types, Research Article, Adult, Heart Defects, Congenital, Imaging Techniques, Offspring, Science, Neuroimaging, Single-nucleotide polymorphism, Biology, Research and Analysis Methods, 03 medical and health sciences, Genome-Wide Association Studies, Genetics, Congenital Disorders, medicine, Humans, Family, Genetic Testing, Birth Defects, Statistical Methods, Gene, Embryos, Amyotrophic Lateral Sclerosis, Infant, Newborn, Case-control study, Infant, Biology and Life Sciences, Computational Biology, Human Genetics, Cell Biology, Genome Analysis, medicine.disease, Germ Cells, 030104 developmental biology, Case-Control Studies, Oocytes, Proteostasis, Mathematics, Neuroscience, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67924a917d89210f1d263991dbb29899Test
https://doi.org/10.1371/journal.pone.0234357Test

المؤلفون: Bernice E. Morrow, Maria Delio, Rashmi S. Hegde, Jinlu Cai, Arnaud P. J. Giese, Joy Samanich, Zubair Ahmed, Kunjan Patel, Jonathan M Grossheim, Saima Riazuddin, Gregory I. Frolenkov

المصدر: PLoS ONE
PLoS ONE, Vol 10, Iss 10, p e0141259 (2015)

مصطلحات موضوعية: Adult, Male, Models, Molecular, Hearing loss, Mutation, Missense, chemistry.chemical_element, lcsh:Medicine, Calcium, Myosins, Protein Structure, Secondary, Stereocilia, Chlorocebus aethiops, medicine, Animals, Humans, Exome, Amino Acid Sequence, lcsh:Science, Child, Hearing Loss, Integrin binding, Genetics, Multidisciplinary, business.industry, lcsh:R, Calcium-Binding Proteins, Correction, Infant, Membrane Proteins, Hispanic or Latino, Pedigree, HEK293 Cells, chemistry, Mutation (genetic algorithm), COS Cells, lcsh:Q, Female, medicine.symptom, business, Non syndromic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47856088bbfb62e7d1cc7c50786ce3d0Test
http://europepmc.org/articles/PMC4608585Test

المؤلفون: Aaron Golden, Maria Delio, Jan Vijg, Bernice E. Morrow, John M. Greally, Kunjan Patel, Alexander Y. Maslov, Evan M. Cadoff, Robert W. Marion, Thomas V. McDonald, Cristina Montagna

المصدر: PLoS ONE, Vol 10, Iss 7, p e0133742 (2015)
PLoS ONE

مصطلحات موضوعية: Cancer genome sequencing, Whole genome sequencing, Adult, Male, Multidisciplinary, lcsh:R, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, lcsh:Medicine, Genome-wide association study, Disease, Biology, Bioinformatics, Polymorphism, Single Nucleotide, DNA sequencing, Mutation, Humans, Female, lcsh:Q, Copy-number variation, lcsh:Science, Exome sequencing, Personal genomics, Research Article, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eb4cc28ae95eef9aeefb649a734b2feTest
http://europepmc.org/articles/PMC4516357?pdf=renderTest

المؤلفون: Saima Riazuddin, Zubair M. Ahmed, Maria Delio, Jonathan M Grossheim, Joy Samanich, Gregory I. Frolenkov, Arnaud P. J. Giese, Bernice E. Morrow, Jinlu Cai, Rashima S. Hegde, Kunjan Patel

المصدر: PLoS ONE, Vol 10, Iss 10, p e0133082 (2015)
PLoS ONE

مصطلحات موضوعية: Hearing loss, lcsh:Medicine, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Calcium-binding protein, medicine, otorhinolaryngologic diseases, Missense mutation, lcsh:Science, Exome, Exome sequencing, 030304 developmental biology, Integrin binding, Genetics, 0303 health sciences, Mutation, Multidisciplinary, lcsh:R, Molecular biology, Membrane protein, lcsh:Q, medicine.symptom, 030217 neurology & neurosurgery, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecbb52d293e1c4a00933099d30b9567aTest
http://europepmc.org/articles/PMC4591343?pdf=renderTest

المؤلفون: Deyou Zheng, Raquel Castellanos, Qing Xie, Ales Cvekl, Bernice E. Morrow

المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 5, p e95151 (2014)

مصطلحات موضوعية: Transcription, Genetic, lcsh:Medicine, medicine.disease_cause, Chromosomal Disorders, Mice, Molecular Cell Biology, Morphogenesis, Medicine and Health Sciences, lcsh:Science, Genetics, Mutation, Multidisciplinary, GATA6, Tandem Repeat Sequences, Research Article, Protein Binding, DNA transcription, Mutation, Missense, Biology, Response Elements, Cell Line, Molecular Genetics, Tandem repeat, stomatognathic system, Consensus sequence, medicine, DiGeorge Syndrome, Animals, Humans, Birth Defects, Gene, Transcription factor, Clinical Genetics, Biology and life sciences, lcsh:R, Human Genetics, DNA-binding domain, Cell Biology, Mice, Mutant Strains, Gene regulation, DNA binding site, Amino Acid Substitution, Gene Expression Regulation, Genetics of Disease, lcsh:Q, Gene expression, Gene Function, T-Box Domain Proteins, Developmental Biology, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e35113487203b2b6494f7dcda208a91Test
http://europepmc.org/articles/PMC4010391Test