-
1دورية أكاديمية
المؤلفون: Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho
المصدر: HGG Advances, Vol 3, Iss 1, Pp 100074- (2022)
مصطلحات موضوعية: genotype-phenotype correlation, skeletal dysplasia, HPO terms, quantitative phenotyping cluster heatmap, molecular diagnosis, traits and OMIM clinical synopsis, Genetics, QH426-470
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Julia Raney, Ria Pal, Tiffany Lee, Samuel Ricardo Saenz, Devika Bhushan, Peter Leahy, Carrie Johnson, Cynthia Kapphahn, Michael A. Gisondi, Kim Hoang
المصدر: MedEdPORTAL, Vol 17 (2021)
مصطلحات موضوعية: Health Disparities, Bias, Language, Communication Skills, Cultural Competence, Diversity, Medicine (General), R5-920, Education
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2374-8265
-
3
المؤلفون: Liliana Fernandez, Maura R.Z. Ruzhnikov, Ryan Gates, Matthew T. Wheeler, Vamsi V. Yarlagadda, Jonathan A. Bernstein, Peter Leahy, Gopal Pramanik, Jennifer C. Schymick, Gregory M. Enns, Tina M. Cowan, Chung Lee
المصدر: American Journal of Medical Genetics Part A. 188:473-487
مصطلحات موضوعية: business.industry, Long QT syndrome, Metabolic disorder, Encephalopathy, Exons, medicine.disease, Bioinformatics, Ketotic hypoglycemia, Rhabdomyolysis, Phenotype, Intellectual Disability, Lactic acidosis, Exome Sequencing, Intellectual disability, Genetics, medicine, Humans, business, Genetics (clinical), Exome sequencing
-
4
المؤلفون: Peter Leahy
المصدر: International Journal of Clinical Studies and Medical Case Reports. 17
مصطلحات موضوعية: General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6d05fab169e256b4fdf77173bec91e28
https://doi.org/10.46998/ijcmcr.2022.17.000416 -
5
المؤلفون: Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, null Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho
المصدر: Human Genetics and Genomics Advances
HGG Advances, Vol 3, Iss 1, Pp 100074-(2022)
Zhang, C, Jolly, A, Shayota, B J, Mazzeu, J F, Du, H, Dawood, M, Soper, P C, Ramalho de Lima, A, Ferreira, B M, Coban-Akdemir, Z, White, J, Shears, D, Thomson, F R, Wainwright, A, Wordsworth, P, Oldridge, M, Lester, T, Calder, A D, Dumic, K, Banka, S, Donnai, D, Jhangiani, S N, Potocki, L, Chung, W K, Mora, S, Northrup, H, Ashfaq, M, Rosenfeld, J A, Mason, K, Pollack, L C, McConkie-Rosell, A, Kelly, W, McDonald, M, Hauser, N S, Leahy, P, Powell, C M, Boy, R, Honjo, R S, Kok, F, Martelli, L R, Filho, V O, Genomics England Research Consortium, Muzny, D M, Gibbs, R A, Posey, J E, Liu, P, Lupski, J R & Sutton, V R 2022, ' Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome : WNT signaling perturbation and phenotypic variability ', Human Genetics and Genomics Advances, vol. 3, no. 1, 100074 . https://doi.org/10.1016/j.xhgg.2021.100074مصطلحات موضوعية: quantitative phenotyping cluster heatmap, indel mutations, QH426-470, genotype-phenotype correlation, skeletal dysplasia, Article, HPO terms, DVL2, molecular diagnosis, Genetics, Molecular Medicine, screw-tail breed dogs, traits and OMIM clinical synopsis, Genetics (clinical)
وصف الملف: application/pdf
-
6
المؤلفون: Devika Bhushan, Cynthia J. Kapphahn, Tiffany Lee, Michael A. Gisondi, Peter Leahy, Kim Hoang, Julia H. Raney, Samuel Ricardo Saenz, Ria Pal, Carrie Johnson
المصدر: MedEdPORTAL, Vol 17 (2021)
MedEdPORTAL : the Journal of Teaching and Learning Resourcesمصطلحات موضوعية: Medicine (General), Health Personnel, media_common.quotation_subject, Original Publication, education, Anti-racism, Communication Skills, Education, R5-920, Nursing, Bias, Surveys and Questionnaires, Health care, Humans, Learning, Clinical care, media_common, Language, Inclusion, Diversity, Health Equity, business.industry, General Medicine, Case-Based Learning, Health equity, Health Disparities, Professionalism, Cultural Competence, Communication skills, business, Psychology, Inclusion (education), Cultural competence, Diversity (politics)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba900d4e3751f0517338fc0b0247f06f
http://www.mededportal.org/doi/10.15766/mep_2374-8265.11115 -
7
-
8
المؤلفون: James R. McKay, Carol Foltz, Richard B. Stephens, Peter Leahy, Robert G Orwin, Evelyn M. Crowley
المصدر: Evaluation and Program Planning. 27:321-331
مصطلحات موضوعية: medicine.medical_specialty, Social Psychology, Continuing care, business.industry, Strategy and Management, Geography, Planning and Development, Public Health, Environmental and Occupational Health, medicine.disease, Substance abuse, Social support, Emergency medicine, medicine, Business and International Management, Psychiatry, Crack cocaine, business, Substance abuse treatment
-
9دورية أكاديمية
المؤلفون: Amy Shriver Dreussi, Peter Leahy
المصدر: Policy Studies Organization, Review of Policy Research. 17(2‐3):120-137
-
10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.