المؤلفون: P J Hastings, Megan N Hersh, P C Thornton, Natalie C Fonville, Andrew Slack, Ryan L Frisch, Mellanie P Ray, Reuben S Harris, Suzanne M Leal, Susan M Rosenberg

المصدر: PLoS ONE, Vol 5, Iss 5, p e10862 (2010)

مصطلحات موضوعية: Medicine, Science

العلاقة: http://europepmc.org/articles/PMC2877720?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/f5b9877d3e044b39b3d2f4be436c4169Test

الإتاحة: https://doi.org/10.1371/journal.pone.0010862Test
https://doaj.org/article/f5b9877d3e044b39b3d2f4be436c4169Test

المؤلفون: Dajiang J Liu, Suzanne M Leal

المصدر: PLoS Genetics, Vol 6, Iss 10, p e1001156 (2010)

مصطلحات موضوعية: Genetics, QH426-470

العلاقة: http://europepmc.org/articles/PMC2954824?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test; https://doaj.org/article/ea42db3c6847422a8ebe704ce5ecc40dTest

الإتاحة: https://doi.org/10.1371/journal.pgen.1001156Test
https://doaj.org/article/ea42db3c6847422a8ebe704ce5ecc40dTest

المؤلفون: Dajiang J. Liu, Suzanne M. Leal

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/5a/4c/PLoS_Genet_2010_Oct_14_6(10)_e1001156.tar.gz

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.350.6694Test

المؤلفون: Bingshan Li, Suzanne M Leal

المصدر: PLoS Genetics, Vol 5, Iss 5, p e1000481 (2009)

مصطلحات موضوعية: Genetics, QH426-470

العلاقة: http://europepmc.org/articles/PMC2674213?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test; https://doaj.org/article/27178f14546a43dcadc71f9a81397297Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1000481Test
https://doaj.org/article/27178f14546a43dcadc71f9a81397297Test

المؤلفون: Bingshan Li, Suzanne M. Leal

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.chidb.com/newsarticles/Rare_Variants_via_Sequencing.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.518.632Test; http://www.chidb.com/newsarticles/Rare_Variants_via_Sequencing.pdfTest

الإتاحة: http://www.chidb.com/newsarticles/Rare_Variants_via_Sequencing.pdfTest

المؤلفون: Suzanne M Leal

المصدر: PLoS Genetics, Vol 3, Iss 12, p e230 (2007)

مصطلحات موضوعية: Genetics, QH426-470

العلاقة: http://europepmc.org/articles/PMC2323308?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test; https://doaj.org/article/a0193035291d4a41960eb324523fb139Test

الإتاحة: https://doi.org/10.1371/journal.pgen.0030230Test
https://doaj.org/article/a0193035291d4a41960eb324523fb139Test

المؤلفون: Fuli Yu, Pardis C. Sabeti, Paul Hardenbol, Qing Fu, Ben Fry, Xiuhua Lu, Sy Ghose, Richard Vega, Ag Perez, Shiran Pasternak, Suzanne M. Leal, Thomas D. Willis, David L. Nelson, John Belmont, Richard A. Gibbs

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/38/e1/PLoS_Genet_2005_Sep_30_1(3)_e41.tar.gz

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.280.7765Test

المؤلفون: Gali Heimer, Juha M. Kerätär, Lisa G. Riley, Shanti Balasubramaniam, Eran Eyal, Laura P. Pietikäinen, J. Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha A. Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J. Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M. Silberstein, Chen Hoffmann, Annick Raas-Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J. Kastaniotis, Bruria Ben-Zeev, Susan J. Hayflick, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter Anderson, Marcus Annable, Elizabeth Marchani Blue, Kati J. Buckingham, Jennifer Chin, Jessica X. Chong, Rodolfo Cornejo, Colleen P. Davis, Christopher Frazar, Zongxiao He, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Tom Kolar, Stephanie A. Krauter, Daniel Luksic, Colby T. Marvin, Sean McGee, Daniel J. McGoldrick, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Peggy D. Robertson, Regie Santos-Cortez, Aditi Shankar, Krystal Slattery, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Monica Tackett, Gao Wang, Marc Wegener, Jeffrey M. Weiss, Riana I. Wernick, Marsha M. Wheeler, Qian Yi

المصدر: The American Journal of Human Genetics. 99:1229-1244

مصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Oxidoreductases Acting on CH-CH Group Donors, Mitochondrial Diseases, Population, Mutation, Missense, Respiratory chain, Saccharomyces cerevisiae, Mitochondrion, Biology, medicine.disease_cause, Basal Ganglia, Article, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Missense mutation, Child, education, Cells, Cultured, Genetics (clinical), education.field_of_study, Cofactor binding, Mutation, Fatty Acids, Genetic Complementation Test, Infant, Fibroblasts, Molecular biology, Mitochondria, Pedigree, Complementation, Optic Atrophy, 030104 developmental biology, Dystonic Disorders, Child, Preschool, Female, RNA Splice Sites, 030217 neurology & neurosurgery, Dystonic disorder

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f5df4ba7c05bbdf056967b31831baceTest
https://doi.org/10.1016/j.ajhg.2016.09.021Test

المؤلفون: Mohsin Shahzad, Saima Riazuddin, Thomas B. Friedman, Regie Lyn P. Santos-Cortez, Rabia Faridi, Zubair M. Ahmed, Shaheen N. Khan, Wasim Ahmad, Sujay Shah, Ayesha Imtiaz, Atteeq U. Rehman, Suzanne M. Leal, Jonathan E. Bird, Sheikh Riazuddin, Kwanghyuk Lee

المصدر: Human Mutation. 37:991-1003

مصطلحات موضوعية: 0301 basic medicine, MYO15A, Locus (genetics), Deafness, Myosins, Biology, Article, Stereocilia, Mice, 03 medical and health sciences, Exon, Myosin, otorhinolaryngologic diseases, Genetics, medicine, Animals, Humans, Missense mutation, Nonsyndromic deafness, Genetics (clinical), Genetic heterogeneity, Alternative splicing, Gene Expression Regulation, Developmental, Exons, medicine.disease, Alternative Splicing, Disease Models, Animal, 030104 developmental biology, Ear, Inner, Mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90c88c9b8447b90a07fe408e76852f5dTest
https://doi.org/10.1002/humu.23042Test

المؤلفون: Teresa Luisa I Gloria-Cruz, Generoso T. Abes, Romeo L. Villarta, Nadim J. Ajami, Eva Maria Cutiongco-de la Paz, Joseph F. Petrosino, Izoduwa Abbe, Carmencita Padilla, Abner L. Chan, Charlotte M. Chiong, Ma. Rina T. Reyes-Quintos, Erasmo Gonzalo D V Llanes, Ma. Leah C. Tantoco, Suzanne M. Leal, Regie Lyn P. Santos-Cortez, Diane S. Hutchinson

المصدر: Otolaryngology–Head and Neck Surgery. 155:856-862

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Genotype, Cross-sectional study, Philippines, Perforation (oil well), Population, Breastfeeding, Otoscopy, Article, Indigenous, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Prevalence, medicine, Humans, Genetic Predisposition to Disease, alpha-Macroglobulins, Family history, Child, 030223 otorhinolaryngology, education, education.field_of_study, business.industry, Microbiota, Environmental Exposure, Otitis Media, Cross-Sectional Studies, 030104 developmental biology, Otitis, Otorhinolaryngology, Child, Preschool, Female, Surgery, medicine.symptom, business, Demography

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95f28fd13fc5af84ba2273c7af79dc8eTest
https://doi.org/10.1177/0194599816661703Test