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1دورية أكاديمية
المؤلفون: Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
مصطلحات موضوعية: CRISPR, Genitopatellar syndrome, KAT6B‐related disorders, phenotypic spectrum, Say‐Barber‐Biesecker‐Young‐Simpson syndrome, variable expressivity, rare genetic diagnosis, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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المؤلفون: Lynn Pais, Anna Pelet, Wilhelmina S. Kerstjens-Frederikse, Christine Bole-Feysot, Yunia Sribudiani, Stanislas Lyonnet, Natasha Shur, Valérie Cormier-Daire, Louise Galmiche, Cécile Masson, Christopher T. Gordon, Chelsea Kois, Céline Huber, John A. Pugh, Simon Sadedin, Thuy-Linh Le, Nicolas Goudin, Tania Attié-Bitach, Susan M. White, Tiong Yang Tan, Geneviève Baujat, Valérie Serre, Xiaomin Dong, Mohammed Zarhrate, Patrick Nitschke, Jeanne Amiel, John Christodoulou, Frans W. Verheijen, Sophie Thomas, R Hofstra, Salima El Chehadeh, Valerie Mayne
المساهمون: Université Paris Cité (UPC), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC), Embryology and genetics of human malformation (Equipe Inserm U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC), Molecular and Physiopathological bases of osteochondrodysplasia - Bases moléculaires et physiopathologiques des ostéochondrodysplasies (Equipe Inserm U1163), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Jacques Monod (IJM (UMR_7592)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPC), Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPC), Genetics and Development of the Cerebral Cortex (Equipe Inserm U1163), Université de Paris (UP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université de Paris (UP)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Clinical Genetics
المصدر: American Journal of Human Genetics, 106(6), 779-792. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.779-792. ⟨10.1016/j.ajhg.2020.04.010⟩
Am J Hum Genet
American Journal of Human Genetics, 106(6), 779-792. Cell Pressمصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, Developmental Disabilities, [SDV]Life Sciences [q-bio], HIRSCHSPRUNG DISEASE, INTRAFLAGELLAR TRANSPORT PROTEIN, ACTIVATION, 0302 clinical medicine, Neoplasms, Sonic hedgehog, Child, Genetics (clinical), Nuclear Proteins, PRIMARY CILIUM, Smoothened Receptor, Hedgehog signaling pathway, Cell biology, Pedigree, Child, Preschool, Female, Signal Transduction, Patched, Nerve Tissue Proteins, Biology, Zinc Finger Protein Gli2, Article, 03 medical and health sciences, HYPOTHALAMIC HAMARTOMA, Zinc Finger Protein Gli3, GLI2, Ciliogenesis, NERVOUS-SYSTEM DEVELOPMENT, Genetics, Humans, Hedgehog Proteins, Cilia, Hedgehog, Alleles, Base Sequence, SONIC HEDGEHOG, MUTATIONS, Infant, CILIARY, 030104 developmental biology, biology.protein, Smoothened, 030217 neurology & neurosurgery, GLI
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1003cc76f77d065c02f6683353a2e2fcTest
https://hdl.handle.net/11370/f3efaa11-0ef7-4727-9a41-8f2f87fed566Test -
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المؤلفون: Kathryn Elliott, Siddharth Srivastava, Meghan C. Towne, Hannah Medsker, Catherine Gooch, Robin D. Clark, John M. Graham, Chanika Phornphutkul, Jill A. Madden, Pankaj B. Agrawal, Maria F. Palafox, Deborah Krakow, Meghna Singh, Daniela N. Schweitzer, Ryan Gates, Ali Fatemi, Kimberly Nugent, Katheryn Grand, Samantha A. Schrier Vergano, Brianna K. Murray, Kate A. Tauber, Weiyi Mu, Erin Swartz, Timothy W. Yu, Julie S. Cohen, Kimberly Glaser, Svetlana Azova, Paul J. Benke, Mary Kathryn Chambers, Dana H. Goodloe, Christina Kresge, Valerie A. Arboleda, John A. Pugh, Kristin W. Barañano, Megan Yabumoto, S. Joy Dean, Beth A. Pletcher, Subhadra Ramanathan, Angela Wei, Jessica Kianmahd, Elizabeth Roeder, Natalia Gomez-Ospina, Jessica Smith, Cynthia S. Gubbels, Anne H. O’Donnell-Luria
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, vol 9, iss 10مصطلحات موضوعية: Male, Say-Barber-Biesecker-Young-Simpson syndrome, rare genetic diagnosis, QH426-470, Bioinformatics, Kidney, Cohort Studies, Craniofacial Abnormalities, Congenital, Intellectual disability, Medicine, CRISPR, 2.1 Biological and endogenous factors, variable expressivity, rare genetic diagnosis, Medical diagnosis, Aetiology, Genetics (clinical), Heart Defects, Histone Acetyltransferases, Pediatric, Patella, Phenotype, Scrotum, Original Article, Abnormalities, KAT6B-related disorders, Multiple, Heart Defects, Congenital, Joint Instability, Genitopatellar syndrome, Genotype, Genetic counseling, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Genetic Counseling, Blepharophimosis, Medicinal and Biomolecular Chemistry, Rare Diseases, Clinical Research, variable expressivity, Intellectual Disability, Congenital Hypothyroidism, Genetics, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Genetic Testing, Craniofacial, Molecular Biology, Alleles, Genetic Association Studies, KAT6B‐related disorders, business.industry, Facies, Original Articles, medicine.disease, Say‐Barber‐Biesecker‐Young‐Simpson syndrome, Transcriptome Sequencing, Brain Disorders, Genetic Loci, Urogenital Abnormalities, Mutation, Congenital Structural Anomalies, Psychomotor Disorders, business, phenotypic spectrum
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3049de7f8ff607c1be67244b27b4cfb4Test
https://doaj.org/article/beed8cf5cfdc460cbcfd56990a49d6fdTest -
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المؤلفون: Ruth M. Tinnacher, Liange Zheng, Charuleka Varadharajan, Jens Birkholzer, Robert Trautz, Peter S. Nico, John D. Pugh, Marco Bianchi, Nicolas Spycher
المصدر: Chemical Geology. 447:117-132
مصطلحات موضوعية: Geochemistry & Geophysics, Calcite, geography, geography.geographical_feature_category, Groundwater flow, Life on Land, Geology, Aquifer, Iron sulfide, 010501 environmental sciences, 010502 geochemistry & geophysics, 01 natural sciences, Physical Geography and Environmental Geoscience, chemistry.chemical_compound, Geochemistry, Brining, chemistry, Geochemistry and Petrology, Environmental chemistry, Dissolution, Groundwater, 0105 earth and related environmental sciences, Water well
وصف الملف: application/pdf; text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82d6650771c72a57fa7c7cb89c7c4f0bTest
https://doi.org/10.1016/j.chemgeo.2016.10.027Test -
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المؤلفون: John A. Pugh, Vijay A. Vishwanath, Travis Smith
المصدر: Pediatric neurology. 100
مصطلحات موضوعية: Male, medicine.medical_specialty, business.industry, Facial Paralysis, MEDLINE, Infant, Newborn, Infant, Newborn, Diseases, Brain Ischemia, Stroke, Dystonia, Text mining, Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health, medicine, Humans, Neurology (clinical), Intensive care medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::411c810db640407c98e8eb715d902150Test
https://pubmed.ncbi.nlm.nih.gov/30922774Test -
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المصدر: Bioinformatics. 31:753-760
مصطلحات موضوعية: Statistics and Probability, Spatial correlation, Computer science, Spectrometry, Mass, Secondary Ion, Image processing, Generalized least squares, Biochemistry, Least squares, Iteratively reweighted least squares, Image Processing, Computer-Assisted, Humans, Metabolomics, Least-Squares Analysis, Total least squares, Molecular Biology, Image resolution, business.industry, Computational Biology, Pattern recognition, Non-linear iterative partial least squares, Computer Science Applications, Secondary ion mass spectrometry, Computational Mathematics, Computational Theory and Mathematics, Non-linear least squares, Artificial intelligence, business, Algorithms
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4cc23a0ef39c00eedc57e3dfee317deTest
https://doi.org/10.1093/bioinformatics/btu734Test -
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المؤلفون: Brian W. Stewart, G. Perkins, Robert Trautz, Dennis L. Newell, John D. Pugh, Toti E. Larson, Rosemary C. Capo
المصدر: International Journal of Greenhouse Gas Control. 29:200-208
مصطلحات موضوعية: geography, Strontium, geography.geographical_feature_category, Stable isotope ratio, Chemistry, Analytical chemistry, chemistry.chemical_element, Management, Monitoring, Policy and Law, Pollution, Industrial and Manufacturing Engineering, Isotopes of strontium, Plume, General Energy, Isotopes of carbon, Environmental chemistry, Dissolved organic carbon, Groundwater, Water well
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b11838e8fbb3cc517da7755d8e0fec47Test
https://doi.org/10.1016/j.ijggc.2014.08.015Test -
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المؤلفون: Romana Höftberger, Ignacio Málaga, Heather Sheriff, Frank Leypoldt, Thaís Armangue, Alfons Macaya, Itxaso Martí, Monica Vicente-Rasoamalala, Maarten J. Titulaer, Josep Dalmau, Miquel Raspall-Chaure, Michael Ke, Miguel Lafuente-Hidalgo, Charles Nichter, John A. Pugh, Carol A. Glaser
المصدر: Annals of Neurology. 75:317-323
مصطلحات موضوعية: Pathology, medicine.medical_specialty, biology, business.industry, Autoantibody, medicine.disease, medicine.disease_cause, Autoimmunity, Cerebrospinal fluid, nervous system, Neurology, mental disorders, Immunology, medicine, biology.protein, Neurology (clinical), Antibody, Young adult, Prospective cohort study, business, Receptor, Encephalitis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a6437d06aad9248956a01e75e45e069aTest
https://doi.org/10.1002/ana.24083Test -
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المؤلفون: Liange Zheng, Charuleka Varadharajan, Ruth M. Tinnacher, Jens Birkholzer, Peter S. Nico, John D. Pugh, Richard A. Esposito, Robert Trautz, Hiram Castillo-Michel, Nicolas Spycher
المصدر: International Journal of Greenhouse Gas Control. 19:183-211
مصطلحات موضوعية: Ion exchange, Chemistry, Sediment, Management, Monitoring, Policy and Law, Pollution, Industrial and Manufacturing Engineering, Metal, chemistry.chemical_compound, General Energy, Environmental chemistry, Desorption, visual_art, Carbon dioxide, visual_art.visual_art_medium, Carbonate, Dissolution, Groundwater
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1e4f9f1679cd742341dbb9b635fb13cdTest
https://doi.org/10.1016/j.ijggc.2013.08.017Test -
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المؤلفون: Panagiotis G. Kyrtatos, Stephen L. Hart, Michele J. Writer, Cameron W. McLeod, Gavin D. Kenny, John A. Pugh, Mark F. Lythgoe, Andrew S. Lowe, Edward White, Alison Bienemann, Steven S. Gill, Claudio Villegas-Llerena
المصدر: Journal of Controlled Release
مصطلحات موضوعية: Male, Genetic enhancement, Contrast Media, Pharmaceutical Science, Gadolinium, 02 engineering and technology, Gene delivery, Transfection, Article, law.invention, Fatty Acids, Monounsaturated, 03 medical and health sciences, Nanoparticle, Confocal microscopy, law, Cell Line, Tumor, Animals, Humans, Distribution (pharmacology), Cationic liposome, Rats, Wistar, 030304 developmental biology, Targeting, 0303 health sciences, Liposome, Chemistry, Phosphatidylethanolamines, Glycosyltransferases, Brain, DNA, 021001 nanoscience & nanotechnology, Magnetic Resonance Imaging, Molecular biology, Rats, 3. Good health, Quaternary Ammonium Compounds, Cell culture, Nanoparticles, Peptides, 0210 nano-technology, MRI
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3717cee3782a03fb921dd1e171ec6193Test