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

Relation: http://www.sciencedirect.com/science/article/pii/S2666247721000555; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/111938d44884445f92d7831c96a453cf

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

URL الوصول: https://doaj.org/article/c5cbfdf709b34f7a933361698e30858e

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a54e394b4a3c7f89ba4a7e46169a57af
https://doi.org/10.1002/ajmg.a.62543

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

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.2021.100074

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e77b81a3eca2f20efcc27c10f904b73
https://pubmed.ncbi.nlm.nih.gov/35047859

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 Resources

مصطلحات 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

المؤلفون: Peter Leahy

مصطلحات موضوعية: Political science, Political economy, Use of force

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ef6904d9f620a45a3735ee2c7c9d620
https://doi.org/10.2307/j.ctv1d5nm2f.27

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6c709812db74db77fea8173e53b19dfb
https://doi.org/10.1016/j.evalprogplan.2004.04.005

المؤلفون: Amy Shriver Dreussi, Peter Leahy

المصدر: Policy Studies Organization, Review of Policy Research. 17(2‐3):120-137

الإتاحة: https://ideas.repec.org/a/bla/revpol/v17y2000i2-3p120-137.html

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