المؤلفون: Mallory J. Owen, Sebastien Lefebvre, Christian Hansen, Chris M. Kunard, David P. Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary J. Willis, Annette Feigenbaum, Anna-Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal S. Mehtalia, Kevin K. Chau, Yong H. Kwon, Zhanyang Zhu, Sergey Batalov, Shimul Chowdhury, Seema Rego, James Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, Gail Knight, Albert Oriol, Jerica Lenberg, Shareef A. Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford, Kristen Wigby, Jacqueline Weir, Vicki S. Thomson, Louise Fraser, Seka S. Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/c8a8f4d045b24f4586c6fb67d44e877e

المؤلفون: Anna-Kaisa Niemi, Kevin Hall, Meredith S. Wright, Mark Speziale, Louise Fraser, Jerica Lenberg, Shimul Chowdhury, Tim K McPhail, Sergey Batalov, Luca Van Der Kraan, Kevin K Chau, David Dimmock, Vicki S Thomson, Christian Hansen, Yan Ding, Mark Nespeca, Shyamal S Mehtalia, Sheldon Gilmer, Stephen F. Kingsmore, Mallory J Owen, Zhanyang Zhu, Gail Knight, Chris M Kunard, Charlotte A. Hobbs, Jacqueline Weir, John Reynders, Narayanan Veeraraghavan, Bryan R. Lajoie, Sebastien Lefebvre, Shareef Nahas, Thomas Defay

المصدر: N Engl J Med

مصطلحات موضوعية: Whole genome sequencing, Infantile encephalopathy, 2019-20 coronavirus outbreak, business.industry, Thiamine Metabolism, General Medicine, Bioinformatics, Genome, Article, Neurologic injury, X ray computed, Medicine, business, Genetic diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90fdf8243084399b2bccf87ef969c176
https://europepmc.org/articles/PMC9844116/

المؤلفون: David Dimmock, Cinnamon S. Bloss, Yan Ding, Kiely N. James, Katarzyna A. Ellsworth, Narayanan Veeraraghavan, Matthew N. Bainbridge, Amy S. Kimball, Jaime Barea, Christina Clarke, Jerica Lenberg, Shareef Nahas, Shimul Chowdhury, Erica Sanford, Patrick Mulrooney, Nathaly M. Sweeney, Sergey Batalov, Lauge Farnaes, Jennie Le, Cynthia Cheung, Mary Gaughran, Leila Schwanemann, Daniken Orendain, Maria Ortiz-Arechiga, Charlotte A. Hobbs, Marva Evans, Kelly Watkins, Marilyn C. Jones, Joshua J.A. Braun, Meredith S. Wright, Terence C. Wong, Carlos Diaz, Mari Tokita, Miguel Del Campo, Brian Lane, Stephen F. Kingsmore, Christian Hansen, Lisa Salz, Michelle M. Clark, Nicole G. Coufal, Casey Cohenmeyer, Joe Gleeson, Seema Rego, Kristen Wigby, Jennifer Friedman, Zaira Bezares, Mark Speziale, Sara A. Caylor, Lance Prince, Richard S. Song, Jose Honold, Albert Oriol, Catherine Yamada, Annette Feigenbaum, Lucitia Van Der Kraan, Sandra Leibel, Denise Suttner, Dana Mashburn, Laurel Moyer, Julie A. Cakici, Lynne M. Bird, Charles Sauer, Daeheon Oh, Iris Reyes, Gail Knight, Michele Feddock, Jeanne Carroll

المصدر: Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Neonatal intensive care unit, Time Factors, Critical Illness, Clinical Decision-Making, Logistic regression, Article, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, 030225 pediatrics, Intensive care, Internal medicine, Intensive Care Units, Neonatal, Genetics, Medicine, Humans, Genetic Testing, Prospective Studies, Genetics (clinical), Pediatric intensive care unit, Whole Genome Sequencing, business.industry, Genome, Human, Genetic Diseases, Inborn, Infant, Newborn, Chromosome Mapping, Disease Management, Infant, Odds ratio, Distress, 030104 developmental biology, Logistic Models, Etiology, Female, sense organs, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97bc93cbabedae90a0f6c0e3274fcc48
https://pubmed.ncbi.nlm.nih.gov/33157007

المؤلفون: David Dimmock, Dorjee Tamang, Sarah White, Peter Schols, Michelle M. Clark, Zaira Bezares, Richard S. Song, Sandra Leibel, Denise Suttner, Jennie Le, Charlotte A. Hobbs, Casey Cohenmeyer, Katarzyna A. Ellsworth, Brian Lane, Amber Hildreth, Lauge Farnaes, Kelly Watkins, Kiely N. James, Terence C. Wong, Cinnamon S. Bloss, Nicole G. Coufal, Laura Puckett, Mari Tokita, Lance Prince, Amy S. Kimball, Narayanan Veeraraghavan, Shareef Nahas, Cyrielle Kint, Yan Ding, Paulina Ordonez, Jaime Barea, Erica Sanford, Kristen Wigby, Daniken Orendain, Maria Ortiz-Arechiga, Meredith S. Wright, Dana Mashburn, Sara A. Caylor, Nathaly M. Sweeney, Joshua J.A. Braun, Christina Clarke, Audra Wise, Lisa Salz, Charles Sauer, Jenni Friedman, George Chiang, Jerica Lenberg, Mark Speziale, Laurel Moyer, Michele Feddock, Jeanne Carroll, Patrick Mulrooney, Raymond Hovey, Stephen F. Kingsmore, Marva Evans, Sergey Batalov, Albert Oriol, Joe Gleeson, Jose Honold, Carlos Diaz, Mary Gaughran, Julie A. Cakici, Crystal Le, Catherine Yamada, Shimul Chowdhury, Gail Knight, Matthew N. Bainbridge, Lucitia Van Der Kraan, Daeheon Oh, Iris Reyes

المصدر: American journal of human genetics, vol 105, iss 4

مصطلحات موضوعية: 0301 basic medicine, ultra-rapid whole-genome sequencing, Pediatrics, medicine.medical_specialty, diagnosis, precision medicine, RCIGM Investigators, Clinical Trials and Supportive Activities, 030105 genetics & heredity, Genome, intensive care unit, Medical and Health Sciences, Article, law.invention, 03 medical and health sciences, Randomized controlled trial, law, genetic disease, Clinical Research, Exome Sequencing, medicine, Genetics, Humans, Genetic Testing, whole-exome sequencing, Genetics (clinical), Exome sequencing, Whole genome sequencing, Pediatric, Genetics & Heredity, Whole Genome Sequencing, business.industry, Singleton, Human Genome, Infant, Newborn, Infant, Biological Sciences, Precision medicine, Newborn, Intensive care unit, 030104 developmental biology, genomic medicine, Good Health and Well Being, whole-genome sequencing, Etiology, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93db546ed65a145dd456f452b1b6a911
https://escholarship.org/uc/item/9h05k7vh

المؤلفون: Golde G. Dudell, Marva L. Evans, Gail Knight, Peggy S. Grimm

المصدر: Critical Care Medicine. 24:1678-1683

مصطلحات موضوعية: Male, Membrane oxygenator, medicine.medical_treatment, Critical Care and Intensive Care Medicine, Extracorporeal, law.invention, Cohort Studies, Extracorporeal Membrane Oxygenation, law, Intensive care, Outcome Assessment, Health Care, Extracorporeal membrane oxygenation, medicine, Intravascular volume status, Cardiopulmonary bypass, Humans, Retrospective Studies, business.industry, Infant, Newborn, Catheter, surgical procedures, operative, Respiratory failure, Anesthesia, Female, Respiratory Insufficiency, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::671b7ca0cac2e33a3b4eb1661fa5e31a
https://doi.org/10.1097/00003246-199610000-00013

المؤلفون: Donna M. McDonald-McGinn, Sarju G. Mehta, Joanna Wiszniewska, Joan Paterson, Duncan McRae, Elena Prigmore, Mislen Bauer, Ingrid Simonic, Regina Schultz, Pawel Stankiewicz, Samarth Bhatt, Mitzi L. Murray, Nigel P. Carter, Robert O. Newbury, Claire Langston, Elaine H. Zackai, Melissa K. Maisenbacher, Lavinia Hallam, Tamim H. Shaikh, Matthew Tyreman, Usha Kini, Malgorzata M.J. Nowaczyk, Diana Rajan, Jane Durham-O'Donnell, Vicki Martin, Sau Wai Cheung, Zhilian Xia, Lionel Willatt, Lisa G. Shaffer, Charles Shaw-Smith, Tomas W Fitzgerald, Bassem A. Bejjani, Kristin Mascotti, Christy W. Jones, Partha Sen, Daniel J. Driscoll, Gail Knight, Ankita Patel, Juan Bolivar, Mekayla Storer, Andrew G. Nicholson, Susan M. Gribble, Virginia A. Hustead, Zhishuo Ou

المصدر: The American Journal of Human Genetics. 85(4)

مصطلحات موضوعية: Genetics, Alveolar capillary dysplasia, Gene cluster, medicine, Genetics(clinical), Erratum, Biology, medicine.disease, Molecular biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6afa3ab054c6839b9c8650fd24d2a309

المؤلفون: Valya E. Visser, Neil N. Finer, Charles G. Cochrane, T. Allen Merritt, Lisa Mastrioianni, Martin Keszler, Steven M. Donn, Krishnamurthy Sekar, Graham Bernstein, Huei Tsai, Hemant Desai, William F. Walsh, Frank L. Mannino, Thomas E. Wiswell, Susan D. Revak, Gail Knight, Brian Marcy

المصدر: Pediatrics. 109(6)

مصطلحات موضوعية: Male, medicine.medical_specialty, medicine.medical_treatment, Population, Suction, Bronchoalveolar Lavage, law.invention, Meconium, Randomized controlled trial, law, medicine, Meconium aspiration syndrome, Humans, education, Mechanical ventilation, education.field_of_study, medicine.diagnostic_test, business.industry, Lucinactant, Infant, Newborn, Gestational age, Pulmonary Surfactants, medicine.disease, Respiration, Artificial, Surgery, Meconium Aspiration Syndrome, Oxygen, Bronchoalveolar lavage, Treatment Outcome, Anesthesia, Pediatrics, Perinatology and Child Health, Female, business, Ventilator Weaning

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d891ab08b9fefd91643b82ddb8e5acf3
https://pubmed.ncbi.nlm.nih.gov/12042558

المؤلفون: Marva L. Evans, Balaji Govindaswami, Golde G. Dudell, Gail Knight

المصدر: Pediatric Research. 41:20-20

مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Heart disease, business.industry, medicine.disease, Pulmonary hypertension, Extracorporeal, Hypoplastic left heart syndrome, Surgery, Discontinuation, medicine.anatomical_structure, Ventricle, Life support, Pediatrics, Perinatology and Child Health, Medicine, Post operative, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bcaeb156d56993e1d64d7ef30e38868d
https://doi.org/10.1203/00006450-199704001-00129

المؤلفون: Paweł, Stankiewicz, Partha, Sen, Samarth S, Bhatt, Mekayla, Storer, Zhilian, Xia, Bassem A, Bejjani, Zhishuo, Ou, Joanna, Wiszniewska, Daniel J, Driscoll, Melissa K, Maisenbacher, Juan, Bolivar, Mislen, Bauer, Elaine H, Zackai, Donna, McDonald-McGinn, Małgorzata M J, Nowaczyk, Mitzi, Murray, Virginia, Hustead, Kristin, Mascotti, Regina, Schultz, Lavinia, Hallam, Duncan, McRae, Andrew G, Nicholson, Robert, Newbury, Jane, Durham-O'Donnell, Gail, Knight, Usha, Kini, Tamim H, Shaikh, Vicki, Martin, Matthew, Tyreman, Ingrid, Simonic, Lionel, Willatt, Joan, Paterson, Sarju, Mehta, Diana, Rajan, Tomas, Fitzgerald, Susan, Gribble, Elena, Prigmore, Ankita, Patel, Lisa G, Shaffer, Nigel P, Carter, Sau Wai, Cheung, Claire, Langston, Charles, Shaw-Smith

المصدر: The American Journal of Human Genetics. (6):780-791

مصطلحات موضوعية: Alveolar capillary dysplasia, Male, Biology, medicine.disease_cause, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Gene cluster, medicine, Genetics, Humans, Genetics(clinical), Abnormalities, Multiple, Gene Silencing, Gene, Genetics (clinical), In Situ Hybridization, Fluorescence, 030304 developmental biology, Bronchopulmonary Dysplasia, 0303 health sciences, Mutation, Point mutation, Infant, Newborn, Chromosome, Chromosome Mapping, Infant, Forkhead Transcription Factors, medicine.disease, Molecular biology, Capillaries, Pulmonary Alveoli, Doxorubicin, Pulmonary Veins, 030220 oncology & carcinogenesis, Child, Preschool, Female, Haploinsufficiency, Chromosomes, Human, Pair 16, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88955684ebc20899cd73fa13d3ae4084