المؤلفون: Ryan Lamm, Megan Lundgren, Adrienne Christopher, Jacob Woodroof, Lindsay Edwards, Christopher Kustera, Charles J. Yeo, Kristin M. Noonan, Harish Lavu, Caitlyn Costanzo, Scott Cowan

المصدر: Patient Safety, Vol 5, Iss 3 (2023)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2689-0143; https://doaj.org/toc/2641-4716

URL الوصول: https://doaj.org/article/60bd66fe4354468b9fabc4324e1f7863

المؤلفون: Chromosome Paternal Isodisomy, Sibel Kantarci, Nicola K. Ragge, N. Simon Thomas, David O. Robinson, Kristin M. Noonan, Meaghan K. Russell, Dian Donnai, F. Lucy Raymond, Christopher A. Walsh, Patricia K. Donahoe, Barbara R. Pober

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.walshlab.org/pdf/Donnai-Barrow_syndromw.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.501.5069; http://www.walshlab.org/pdf/Donnai-Barrow_syndromw.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.501.5069
http://www.walshlab.org/pdf/Donnai-Barrow_syndromw.pdf

المؤلفون: Maria Foy, Orlando C. Kirton, Kristin M. Noonan, Jaclyn Heilman, Mathai Kurien, Jessica Barnett, Deborah Chesmar, Philip Sasso, Mary Rosenbaum, Paula Breslin-Perry

المصدر: Journal of the American College of Surgeons. 231:e152

مصطلحات موضوعية: Opioid epidemic, Battle, business.industry, Multidisciplinary approach, media_common.quotation_subject, Medicine, Surgery, Plan (drawing), Medical emergency, business, medicine.disease, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::05c86afd8c6d2220952ce586aa546cc0
https://doi.org/10.1016/j.jamcollsurg.2020.08.401

المؤلفون: Fernando Bonanni, Kristin M. Noonan, Gintaras Antanavicius, Federico Perez Quirante

المصدر: Surgery for Obesity and Related Diseases. 15:S111-S112

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Weight loss, Medicine, Surgery, medicine.symptom, Single institution, business, Outcome (game theory), Term (time)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9b8f2024f82fa8eee8e829685e4bcf15
https://doi.org/10.1016/j.soard.2019.08.229

المؤلفون: Matthew E. Hurles, Jeffrey R. MacDonald, Diane Rigler, Stephen W. Scherer, Nigel P. Carter, Aparna Prasad, Kristin M. Noonan, Tom Fitzgerald, Elena Prigmore, Lars Feuk, Ji Hyeon Park, Dalila Pinto, Xinghua Shi, Charles Lee, Anath C. Lionel, Patricia K. Donahoe, Susan M. Gribble, Katayoon Darvishi, Ryan E. Mills, Diana Rajan, Bhooma Thiruvahindrapuram, Richard S. Smith

المصدر: Nature Biotechnology. 29:512-520

مصطلحات موضوعية: DNA Copy Number Variations, Genotype, Computer science, Concordance, Biomedical Engineering, Bioengineering, Polymorphism, Single Nucleotide, Applied Microbiology and Biotechnology, Article, Databases, Genetic, Copy-number variation, Independent data, Genetic Association Studies, Oligonucleotide Array Sequence Analysis, Comparative Genomic Hybridization, Genome, Data curation, Reproducibility of Results, Replicate, Data quality, Benchmark (computing), Molecular Medicine, Raw data, Algorithm, Algorithms, Software, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::667a8c4af55f4e7381e882d2e787b35a
https://doi.org/10.1038/nbt.1852

المؤلفون: Barbara R. Pober, Kristin M. Noonan, Mauro Longoni

المصدر: Birth Defects Research Part A: Clinical and Molecular Teratology. 85:76-81

مصطلحات موضوعية: Male, Embryology, Pediatrics, medicine.medical_specialty, Pathology, Adolescent, Developmental Disabilities, Hearing Loss, Sensorineural, Article, Anterior fontanelle, Craniofacial Abnormalities, Diagnosis, Differential, Young Adult, Myopia, medicine, Humans, Abnormalities, Multiple, Hypertelorism, Child, Agenesis of the corpus callosum, Omphalocele, business.industry, Infant, Newborn, Infant, Congenital diaphragmatic hernia, Syndrome, General Medicine, Donnai–Barrow syndrome, medicine.disease, Low Density Lipoprotein Receptor-Related Protein-2, Proteinuria, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Sensorineural hearing loss, medicine.symptom, Differential diagnosis, business, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::312ba3f7ed902ab68a8b42e1483bfd8d
https://doi.org/10.1002/bdra.20534

المؤلفون: Dian Donnai, N. Simon Thomas, Patricia K. Donahoe, Sibel Kantarci, F. Lucy Raymond, Nicola K. Ragge, Meaghan K. Russell, Barbara R. Pober, Christopher A. Walsh, Kristin M. Noonan, David O. Robinson

المصدر: American Journal of Medical Genetics Part A. :1842-1847

مصطلحات موضوعية: Adult, Male, Hearing Loss, Sensorineural, Genetic counseling, Hernia, Inguinal, Biology, Article, Myopia, Genetics, medicine, Humans, Abnormalities, Multiple, Hypertelorism, Allele, Child, Genetics (clinical), Encephalocele, Sequence Deletion, Base Sequence, Homozygote, Chromosome, DNA, Syndrome, Donnai–Barrow syndrome, Uniparental Disomy, medicine.disease, Uniparental disomy, Pedigree, Low Density Lipoprotein Receptor-Related Protein-2, Proteinuria, Uniparental Isodisomy, Chromosomes, Human, Pair 2, Mutation, Female, Agenesis of Corpus Callosum, medicine.symptom, Genomic imprinting

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d31bdfae8ad84dd939c8b047002812b8
https://doi.org/10.1002/ajmg.a.32381

المؤلفون: Jihua Cheng, Andre R. Kydd, Kristin M. Noonan, Wayne A. Marasco, Chen Xu, Hong Tao, Markryan Dwyer, Quan Zhu, Koichi Nakase, Akikazu Murakami

المصدر: Blood. 110:2110-2120

مصطلحات موضوعية: Adult, Gene Expression Regulation, Viral, Transcriptional Activation, Chromatin Immunoprecipitation, animal structures, Immunoprecipitation, Blotting, Western, Immunology, Histone Deacetylase 1, Protein tyrosine phosphatase, Transfection, Biochemistry, Histone Deacetylases, Protein Phosphatase 1, Tumor Cells, Cultured, Humans, Leukemia-Lymphoma, Adult T-Cell, Gene silencing, Gene Silencing, Luciferases, Promoter Regions, Genetic, Psychological repression, Protein Tyrosine Phosphatase, Non-Receptor Type 1, Regulation of gene expression, Human T-lymphotropic virus 1, Neoplasia, biology, Gene Expression Regulation, Leukemic, Protein Tyrosine Phosphatase, Non-Receptor Type 6, NF-kappa B, Acetylation, Promoter, Gene Products, tax, Cell Biology, Hematology, Molecular biology, Histone, embryonic structures, Mutagenesis, Site-Directed, biology.protein, Interleukin-2, biological phenomena, cell phenomena, and immunity, Chromatin immunoprecipitation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d309249050338c08b48a3a5861f6252
https://doi.org/10.1182/blood-2006-11-058388

المؤلفون: Alan F. Rope, Jeroen Breckpot, Osamu Shimokawa, Ji H. Park, Steven B. Bleyl, Adam Tracy, Faouzi I. Maalouf, Elaine H. Zackai, Chih P. Chen, Dagmar Wieczorek, Kasper Lage, Caroline Coletti, Mauro Longoni, Maria Loscertales, Patricia K. Donahoe, Omar A. Abdul-Rahman, Paul Brady, Gabriele Gillessen-Kaesbach, Koenraad Devriendt, Kristin M. Noonan, Arthur Grix, Charles Lee, Barbara R. Pober, Gareth Baynam, Bernarda Strauss, Meaghan K. Russell

المصدر: American journal of medical genetics. Part A. (12)

مصطلحات موضوعية: Heart malformation, Medizin, CNVConnect, HEART-DEFECTS, congenital diaphragmatic hernia, CANDIDATE GENES, DNA Glycosylases, Mice, Pregnancy, Gene duplication, DNA-(Apurinic or Apyrimidinic Site) Lyase, SOXF Transcription Factors, COMPARATIVE GENOMIC HYBRIDIZATION, Diaphragmatic hernia, MOLECULAR CHARACTERIZATION, CARDIAC DEVELOPMENT, Protein Interaction Maps, Genetics (clinical), Genetics & Heredity, Genetics, GATA4, Phenotype, duplication 8p23 1, DNA copy number variants, NEIL2, Female, Chromosome Deletion, SOX7, Life Sciences & Biomedicine, Chromosomes, Human, Pair 8, Heart Defects, Congenital, MICRODELETION SYNDROME, Diaphragmatic breathing, Biology, Article, congenital heart defect, GATA TRANSCRIPTION FACTORS, Gene interaction, medicine, Animals, Humans, PRENATAL-DIAGNOSIS, Hernia, Diaphragmatic, Science & Technology, Congenital diaphragmatic hernia, DNA, medicine.disease, GATA4 Transcription Factor, Mice, Inbred C57BL, Karyotyping, SEPTAL-DEFECTS, deletion 8p23 1, Hernias, Diaphragmatic, Congenital, ARRAY-CGH

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20c5f8f4d9389734d35be5836e01e8fc
https://pubmed.ncbi.nlm.nih.gov/23165946

المؤلفون: Kristin M. Noonan, Rafael Pieretti Vanmarcke, Sibel Kantarci, Xiaoyun Zhang, Paul S. Dickman, Carrie Sougnez, Mauro Longoni, Meaghan K. Russell, Eli Hatchwell, Kate G. Ackerman, Jay M. Wilson, Kwame Anyane-Yeboa, Barbara R. Pober, Patricia K. Donahoe

مصطلحات موضوعية: Male, Candidate gene, Biology, Article, Congenital Abnormalities, Fryns syndrome, Genetics, medicine, Humans, Hedgehog Proteins, Multiplex ligation-dependent probe amplification, Child, Lung, Genetics (clinical), In Situ Hybridization, Fluorescence, DNA Primers, Sequence Deletion, Hernia, Diaphragmatic, Informed Consent, Mosaicism, Point mutation, Infant, Newborn, Chromosome, Congenital diaphragmatic hernia, Chromosome Mapping, Karyotype, DNA, medicine.disease, Bochdalek hernia, Chromosomes, Human, Pair 1, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::083e9bf1885bbaad06c16a0b8734711a
https://europepmc.org/articles/PMC3797530/

المؤلفون: Graeme C.M. Black, David T. MacLaughlin, Eric Bieth, Didier Lacombe, Meaghan K. Russell, R. Sean Hill, Lihadh Al-Gazali, Sibel Kantarci, Ahmad S. Teebi, Koenraad Devriendt, Tianming Liu, Barbara R. Pober, Nicolas Chassaing, Dian Donnai, Caroline D. Robson, Patricia K. Donahoe, Kristin M. Noonan, Maria Loscertales, Christopher A. Walsh

مصطلحات موضوعية: medicine.medical_specialty, Pathology, Hearing loss, Hearing Loss, Sensorineural, Biology, medicine.disease_cause, Corpus callosum, Kidney, Article, Craniofacial Abnormalities, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Family, Agenesis of the corpus callosum, Hernia, Diaphragmatic, Mutation, Congenital diaphragmatic hernia, Eye Diseases, Hereditary, Donnai–Barrow syndrome, Syndrome, medicine.disease, LRP2, Low Density Lipoprotein Receptor-Related Protein-2, Endocrinology, Chromosomes, Human, Pair 2, Sensorineural hearing loss, medicine.symptom, Agenesis of Corpus Callosum

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a999c7c1208a136adf47343f694a4b
https://europepmc.org/articles/PMC2891728/

المؤلفون: Kristin M. Noonan, L. Hannah Gould, Wayne A. Marasco, John F. Anderson, Cassandra Lambeth, Michel Ledizet, Theodore Oliphant, Tian Wang, Jianhua Sui, Harald G. Foellmer, Aravinda M. de Silva, Kalipada Kar, Akikazu Murakami, Michael S. Diamond, Raymond A. Koski, Erol Fikrig

مصطلحات موضوعية: Serotype, Recombinant Fusion Proteins, viruses, Immunology, Dengue virus, medicine.disease_cause, Antibodies, Viral, Microbiology, Virus, Flaviviridae, Mice, Antibody Specificity, Virology, Vaccines and Antiviral Agents, medicine, Animals, Humans, Immunoglobulin Fragments, biology, Viral Vaccine, Viral Vaccines, biology.organism_classification, Fusion protein, Immunoglobulin Fc Fragments, Flavivirus, Insect Science, biology.protein, Antibody, West Nile virus, West Nile Fever

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38e102358649e5f7a09b6739fbfb22c4

المؤلفون: James R. Wallace, Matthew I. Goldblatt, Kristin M. Noonan

المصدر: Surgery for Obesity and Related Diseases. 7:374-375

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Gastric bypass, Metabolism, Roux-en-Y anastomosis, Gastroenterology, Bioavailability, Surgery, Anesthesia, Internal medicine, medicine, business, Medication toxicity

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6179cf8cd6826e81b941e82b2c137aa7
https://doi.org/10.1016/j.soard.2011.04.010

المؤلفون: Errol C. Baptist, Kristin M. Noonan

المصدر: The Pediatric Infectious Disease Journal. 21:178-179

مصطلحات موضوعية: Microbiology (medical), medicine.medical_specialty, Infectious Diseases, Text mining, business.industry, Pediatrics, Perinatology and Child Health, medicine, business, Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a4455339909343dc1b80b1eff9145954
https://doi.org/10.1097/00006454-200202000-00024

المؤلفون: Jihua Cheng, Quan Karen Zhu, Akikazu Murakami, Wayne A. Marasco, Andre R. Kydd, Hong Tao, Koichi Nakase, Kristin M. Noonan

المصدر: Retrovirology
Retrovirology, Vol 3, Iss Suppl 1, p P12 (2006)

مصطلحات موضوعية: lcsh:Immunologic diseases. Allergy, Genetics, animal structures, biology, Wild type, Promoter, Protein tyrosine phosphatase, Jurkat cells, Cell biology, Infectious Diseases, Histone, Virology, Poster Presentation, biology.protein, Gene silencing, lcsh:RC581-607, Chromatin immunoprecipitation, Psychological repression

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a4615b5b36f91a22d65eb17eba266af
http://europepmc.org/articles/PMC1716830

المؤلفون: Kristin M. Noonan, Shainn Wei Wang, Anna Aldovini

المصدر: Journal of Virology. 78:2653-2653

مصطلحات موضوعية: viruses, Mutant, Cell, Immunology, Biology, Cleavage (embryo), Transfection, Microbiology, Virus, Cell Line, Virology, medicine, Centrifugation, Density Gradient, Humans, Nucleocapsid, Virus Assembly, Structure and Assembly, Virion, RNA, Cell biology, Microscopy, Electron, medicine.anatomical_structure, Membrane, Viral protease, Insect Science, Mutation, HIV-1, RNA, Viral, Erratum, Normal density

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c075062620e2aa9ccb3a9f0b00a27f8
https://doi.org/10.1128/jvi.78.5.2653.2004