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المؤلفون: Soumi Ghosh, Christian P. Ahearn, Christine R. Isabella, Victoria M. Marando, Gregory J. Dodge, Helen Bartlett, Robert L. McPherson, Amanda E. Dugan, Shikha Jain, Lubov Neznanova, Hervé Tettelin, Rachel Putnik, Catherine L. Grimes, Stefan Ruhl, Laura L. Kiessling, Barbara Imperiali
المصدر: Proceedings of the National Academy of Sciences. 120
مصطلحات موضوعية: Multidisciplinary
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::18830197b934d150759c1eb81d8a39c5
https://doi.org/10.1073/pnas.2216304120 -
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المؤلفون: Robert L. McPherson, Christine R. Isabella, Rebecca L. Walker, Dallis Sergio, Sunhee Bae, Tony Gaca, Smrithi Raman, Le Thanh Tu Nguyen, Darryl A. Wesener, Melanie Halim, Michael G. Wuo, Amanda Dugan, Robert Kerby, Soumi Ghosh, Federico E. Rey, Catherine Dhennezel, Gleb Pishchany, Hera Vlamakis, Eric J. Alm, Ramnik J. Xavier, Laura L. Kiessling
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6480d9eb512b0d77c25c4a84f6ed5e76
https://doi.org/10.1101/2022.12.14.520458 -
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المؤلفون: Christine R. Isabella, Laura L. Kiessling, Caitlin M. McMahon, Paul Kosma, Ian W. Windsor, Ronald T. Raines
المصدر: J Am Chem Soc
PMCمصطلحات موضوعية: Steric effects, Glycan, Stereochemistry, Stereoisomerism, Plasma protein binding, 010402 general chemistry, Crystallography, X-Ray, 01 natural sciences, Biochemistry, Catalysis, Article, Colloid and Surface Chemistry, Protein structure, Polysaccharides, Carbohydrate Conformation, biology, Chemistry, Lectin, General Chemistry, computer.file_format, Protein Data Bank, 0104 chemical sciences, carbohydrates (lipids), biology.protein, lipids (amino acids, peptides, and proteins), Carbohydrate conformation, computer, Protein Binding
وصف الملف: application/pdf
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المصدر: The FASEB Journal. 34:1-1
مصطلحات موضوعية: Intestinal Microbiome, Genetics, Biology, Molecular Biology, Biochemistry, Biotechnology, Microbiology
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المؤلفون: Helen Bartlett, Roger C. Diehl, Laura L. Kiessling, Barbara Imperiali, Christine R. Isabella, Gregory Dodge, Amanda Dugan
المصدر: The FASEB Journal. 34:1-1
مصطلحات موضوعية: Innate immune system, Pipeline (computing), Genetics, Biology, Molecular Biology, Biochemistry, Biotechnology, Cell biology
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المؤلفون: Hamit Özyürek, N. de Lacy, Brian J. O'Roak, Tessa Rue, Jay Shendure, Evan A. Boyle, Phillip F. Chance, Angels García-Cazorla, Jennifer C. Dempsey, Dana M. Knutzen, Charles Marques Lourenço, I A Glass, Beyhan Tüysüz, Diana R. O’Day, Jonathan Adkins, Dan Doherty, Ruxandra Bachmann-Gagescu, Gisele E. Ishak, Radha Ramadevi A, Melissa A. Parisi, L Lingappa, Loreto Martorell, Abdulrahman Alswaid, G Haliloğlu, Ian G. Phelps, Christine R. Isabella, Meral Topçu, Nicholas T. Gorden
المساهمون: OMÜ, Çocuk ve Ergen Ruh Sağlığı ve Hastalıkları, University of Zurich, Doherty, D
المصدر: Journal of Medical Genetics
JOURNAL OF MEDICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: 2716 Genetics (clinical), 10039 Institute of Medical Genetics, TMEM67, DNA Mutational Analysis, Biology, Carrier testing, Bioinformatics, Article, Retina, Joubert syndrome, Cohort Studies, Genetic Heterogeneity, 1311 Genetics, Cerebellum, Genetics, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Genetic Association Studies, Genetics (clinical), Genetics & Heredity, Coloboma, Polydactyly, Genetic heterogeneity, Sequence Analysis, DNA, Kidney Diseases, Cystic, Models, Theoretical, medicine.disease, 10124 Institute of Molecular Life Sciences, Hypotonia, Pedigree, 3. Good health, Ciliopathy, 570 Life sciences, biology, medicine.symptom
وصف الملف: text/plain
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المؤلفون: Christine R. Isabella, Hannah M. Tully, Dan Doherty, Ian G. Phelps, Ruxandra Bachmann-Gagescu, Megan E. Grout, Jennifer C. Dempsey
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Multifactorial Inheritance, Genes, Recessive, Biology, Joubert syndrome, Retina, Article, 03 medical and health sciences, Cerebellum, Genetic variation, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Eye Abnormalities, Allele, Allele frequency, Exome, Genetics (clinical), Alleles, Genetic Association Studies, Genetics, Genes, Modifier, Models, Genetic, Genetic Diseases, Inborn, Genetic Variation, Kidney Diseases, Cystic, genetic modifiers, medicine.disease, Phenotype, oligogenicity, Ciliopathy, 030104 developmental biology, Mutation, ciliopathies
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المؤلفون: Brian J. O'Roak, Christine R. Isabella, Jay Shendure, Ian A. Glass, Jennifer C. Dempsey, Diana R. O’Day, Ruxandra Bachmann-Gagescu, Dan Doherty, Ian G. Phelps
المصدر: Cilia
مصطلحات موضوعية: Coloboma, medicine.medical_specialty, Ataxia, Polydactyly, TMEM67, Cell Biology, Biology, medicine.disease, Bioinformatics, CC2D2A, Gastroenterology, Hypotonia, Joubert syndrome, Encephalocele, Internal medicine, Poster Presentation, medicine, medicine.symptom
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المؤلفون: Jay Shendure, Christine R. Isabella, Russell J. Ferland, Ali Cansu, Charles Marques Lourenço, Karina Tuz, Chad R. Haldeman-Englert, Meral Topçu, Zornitza Stark, Ruxandra Bachmann-Gagescu, Ian A. Glass, Abdulrahman Alswaid, Dan Doherty, Brian J. O'Roak, Richard J. Leventer, Livija Medne, Carsten G. Bönnemann, Ian G. Phelps, Gisele E. Ishak, Jennifer C. Dempsey, Stephan C.F. Neuhauss, Allan Stolarski, Kiet Hua, Sheela Nampoothiri, Diana R. O’Day, Stephen Done, Sujatha Jagadeesh
المساهمون: University of Zurich, Doherty, Dan, Çocuk Sağlığı ve Hastalıkları
المصدر: American Journal of Human Genetics
Europe PubMed Centralمصطلحات موضوعية: Male, Pathology, 10039 Institute of Medical Genetics, Physiology, Cell Cycle Proteins, medicine.disease_cause, 0302 clinical medicine, Cerebellum, Genetics(clinical), Eye Abnormalities, Child, Zebrafish, Ellis–van Creveld syndrome, Genetics (clinical), Genetics, Genetics & Heredity, Mutation, 0303 health sciences, Cilium, 030305 genetics & heredity, Exons, Kidney Diseases, Cystic, Phenotype, 10124 Institute of Molecular Life Sciences, Child, Preschool, Gene Knockdown Techniques, Female, Erratum, Microtubule-Associated Proteins, Jeune asphyxiating thoracic dystrophy, medicine.medical_specialty, 2716 Genetics (clinical), Adolescent, Ellis-Van Creveld Syndrome, 610 Medicine & health, Biology, Joubert syndrome, Article, Retina, 03 medical and health sciences, Young Adult, 1311 Genetics, Cerebellar Diseases, medicine, Animals, Humans, Abnormalities, Multiple, Cilia, 030304 developmental biology, Infant, Sequence Analysis, DNA, Fibroblasts, biology.organism_classification, medicine.disease, Human genetics, Ciliopathy, Centrosome, 570 Life sciences, biology, 030217 neurology & neurosurgery
وصف الملف: Tuz et al, Mutations in CSPP1.pdf - application/pdf; text/plain
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::393da4024c91db24968884fb773ade7a
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