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1دورية أكاديمية
المؤلفون: Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
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2دورية أكاديمية
المؤلفون: Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
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المؤلفون: Edda Nicolson, Colin Heywood, Stefan Berger, Ben Curtis, Mike Mecham, Hazel Perry, Daniel Frost, Jim Tomlinson
المصدر: Labour History Review. 88:75-93
مصطلحات موضوعية: Organizational Behavior and Human Resource Management, History
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c63cb498d403c3d54158ebc7be23fd32
https://doi.org/10.3828/lhr.2023.4 -
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المؤلفون: Hazel Perry
المصدر: Utopian Studies. 32:124-127
مصطلحات موضوعية: Philosophy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::08548b1e54cc57d82714b295fa47852b
https://doi.org/10.5325/utopianstudies.32.1.0124 -
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المؤلفون: Bryce A. Mendelsohn, Pui-Yan Kwok, Dario Boffelli, Karen H. Y. Wong, Jingwei Yu, Anne Slavotinek, Ophir D. Klein, Michal Levy-Sakin, David Martin, Michelle Verghese, Daniah Beleford, Joseph T. Shieh, Renata C. Gallagher, Monica Penon-Portmann, Zhongxia Qi, Andrew G. Sharo, Steven E. Brenner, Hazel Perry, Stephen K. Chow, Jessica Tenney
المصدر: NPJ genomic medicine, vol 6, iss 1
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
NPJ Genomic Medicineمصطلحات موضوعية: Prioritization, Future application, Computational biology, Biology, QH426-470, Genome, Article, Gene duplication, Genetics, Genetic Testing, Molecular Biology, Genetics (clinical), Analysis method, screening and diagnosis, Prevention, Medical genetics, Breakpoint, Human Genome, Paediatrics, Publisher Correction, 4.1 Discovery and preclinical testing of markers and technologies, Detection, Medicine, Generic health relevance, 4.2 Evaluation of markers and technologies
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5e36416afde28cc435320747fc41c9e
https://escholarship.org/uc/item/8xw3j9km -
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المؤلفون: Jingwei Yu, Michelle Verghese, Stephen K. Chow, Ophir D. Klein, Zhongxia Qi, Joseph T. Shieh, Karen H. Y. Wong, Andrew G. Sharo, Michal Levy-Sakin, Pui-Yan Kwok, Dario Boffelli, Anne Slavotinek, Bryce A. Mendelsohn, Renata C. Gallagher, David Martin, Jessica Tenney, Daniah Beleford, Hazel Perry, Steven E. Brenner, Monica Penon-Portmann
مصطلحات موضوعية: Prioritization, Gene duplication, Breakpoint, Future application, Computational biology, Biology, Genome, Analysis method
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bdfcc2c7f13b23a303fddd5f79824b53
https://doi.org/10.1101/2020.10.22.20216531 -
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المؤلفون: Karen H. Y. Wong, Steven E. Brenner, Renata C. Gallagher, David I. K. Martin, Monica Penon-Portmann, Michal Levy-Sakin, Andrew G. Sharo, Bryce A. Mendelsohn, Pui-Yan Kwok, Dario Boffelli, Michelle Verghese, Jessica Tenney, Hazel Perry, Anne Slavotinek, Daniah Beleford, Zhongxia Qi, Stephen K. Chow, Ophir D. Klein, Joseph T. Shieh, Jingwei Yu
المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
مصطلحات موضوعية: business.industry, Published Erratum, MEDLINE, Genetics, Medicine, Computational biology, QH426-470, business, Molecular Biology, Genome, Genetics (clinical)
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المؤلفون: Joseph T. Shieh, Snehlata Oberoi, Ophir D. Klein, Jaemin Ko, Jason H. Pomerantz, Hazel Perry, Anne Slavotinek
المصدر: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 57(1)
مصطلحات موضوعية: 0301 basic medicine, Heart Septal Defects, Ventricular, medicine.medical_specialty, Cleft Lip, 030105 genetics & heredity, Short stature, Craniofacial Abnormalities, 03 medical and health sciences, Facial dysmorphism, medicine, Humans, Abnormalities, Multiple, Exome sequencing, Growth Disorders, Adenosine Triphosphatases, business.industry, Genetic disorder, Craniometry, medicine.disease, Dermatology, Cleft Palate, 030104 developmental biology, Otorhinolaryngology, Floating–Harbor syndrome, Bilateral cleft lip, Submucous cleft palate, Oral Surgery, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6e4290a50f049eee7af7a146c575cfe
https://pubmed.ncbi.nlm.nih.gov/31248274 -
9Natural History and Genotype-Phenotype Correlations in 72 Individuals with SATB2-Associated Syndrome
المؤلفون: Adi Algrabli, Sonal Mahida, William Allen, Cruz Velasco Gonzalez, Marta Szybowska, Aditi Shah Parikh, Quinn Stein, Katie Golden-Grant, David B. Everman, Hailey Pinz, Chumei Li, Mary-Alice Abbott, Anita E. Beck, Alice Basinger, Rebecca McClellan, Victoria Mok Siu, Brittney Knyszek, Leah Fleming, Caroline Brain, Angela Sun, Chantalle Raimondi, Elizabeth A. Sellars, Arti Pandya, Anne Slavotinek, Wendy E. Smith, Meena Balasubramanian, Hazel Perry, Elaine H. Zackai, Michelle Steinraths, E. Martina Bebin, Amelia Kirby, Nathaniel H. Robin, Yuri A. Zarate, Holly Dubbs, Julie Kaylor, Wendy K. Chung, Xilma R. Ortiz-Gonzalez, Margarita Saenz, Louisa Kalsner, Constance Smith-Hicks, Louise C. Wilson, Allison D. Britt, Hilary J. Vernon, Michael J. Gambello, Joseph W. Ray, Katherine A. Bosanko, Carol L. Greene, Samantha A. Schrier Vergano, Julie S. Cohen, Cynthia M. Powell, Jonathan Picker, Alena Egense, Suzanna Schott, Amy R. U. L. Calhoun, Ajith Kuttannair Kumar, Brad Angle, Ali Fatemi, Hannah Bombei
المصدر: Paediatrics Publications
مصطلحات موضوعية: single nucleotide, 0301 basic medicine, Male, Pediatrics, genetic association studies, Inheritance Patterns, polymorphism, Genotype, SATB2-associated syndrome, Medicine, Young adult, Child, Genotype-Phenotype Correlations, Genetics (clinical), Limited speech, Syndrome, multiple, Natural history, female, Phenotype, natural history, Child, Preschool, Female, abnormalities, SATB, Adult, medicine.medical_specialty, Adolescent, phenotype, genotype-phenotype correlation, Polymorphism, Single Nucleotide, preschool, 03 medical and health sciences, Young Adult, transcription factors, Genetics, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Craniofacial, Genetic Association Studies, business.industry, Facies, Infant, Matrix Attachment Region Binding Proteins, medicine.disease, Crowding, 030104 developmental biology, Macrodontia (tooth), facial recognition technology, business, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::383416bf76e65b20350d3043c8b734b4
https://ir.lib.uwo.ca/paedpub/138 -
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المؤلفون: Yuri A. Zarate, Constance L. Smith‐Hicks, Carol Greene, Mary‐Alice Abbott, Victoria M. Siu, Amy R. U. L. Calhoun, Arti Pandya, Chumei Li, Elizabeth A. Sellars, Julie Kaylor, Katherine Bosanko, Louisa Kalsner, Alice Basinger, Anne M. Slavotinek, Hazel Perry, Margarita Saenz, Marta Szybowska, Louise C. Wilson, Ajith Kumar, Caroline Brain, Meena Balasubramanian, Holly Dubbs, Xilma R. Ortiz‐Gonzalez, Elaine Zackai, Quinn Stein, Cynthia M. Powell, Samantha Schrier Vergano, Allison Britt, Angela Sun, Wendy Smith, E. Martina Bebin, Jonathan Picker, Amelia Kirby, Hailey Pinz, Hannah Bombei, Sonal Mahida, Julie S. Cohen, Ali Fatemi, Hilary J. Vernon, Rebecca McClellan, Leah R. Fleming, Brittney Knyszek, Michelle Steinraths, Cruz Velasco Gonzalez, Anita E. Beck, Katie L. Golden‐Grant, Alena Egense, Aditi Parikh, Chantalle Raimondi, Brad Angle, William Allen, Suzanna Schott, Adi Algrabli, Nathaniel H. Robin, Joseph W. Ray, David B. Everman, Michael J. Gambello, Wendy K. Chung
المصدر: American Journal of Medical Genetics Part A. 176
مصطلحات موضوعية: Genetics, Genetics (clinical)