Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Hazel Perry"'
Autor:
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
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Current genetic testenhancer and narrows the diagnostic intervals for rare diseases provide a diagnosis in only a modest proportion of cases. The Full-Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to d
Externí odkaz:
https://doaj.org/article/9a465491e52f48439eba018a2a0c7a7a
Autor:
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
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/5e3c11cfdf3f4c82bfe28483d4bc97d0
Autor:
Edda Nicolson, Colin Heywood, Stefan Berger, Ben Curtis, Mike Mecham, Hazel Perry, Daniel Frost, Jim Tomlinson
Publikováno v:
Labour History Review. 88:75-93
Autor:
Hazel Perry
Publikováno v:
Utopian Studies. 32:124-127
Autor:
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
Publikováno v:
NPJ genomic medicine, vol 6, iss 1
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
NPJ Genomic Medicine
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
NPJ Genomic Medicine
Current genetic testenhancer and narrows the diagnostic intervals for rare diseases provide a diagnosis in only a modest proportion of cases. The Full-Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to detect sma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5e36416afde28cc435320747fc41c9e
https://escholarship.org/uc/item/8xw3j9km
https://escholarship.org/uc/item/8xw3j9km
Autor:
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
Current genetic tests for rare diseases provide a diagnosis in only a modest proportion of cases. The Full Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to detect small variants, structural variants with breakp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bdfcc2c7f13b23a303fddd5f79824b53
https://doi.org/10.1101/2020.10.22.20216531
https://doi.org/10.1101/2020.10.22.20216531
Autor:
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
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
Autor:
Joseph T. Shieh, Snehlata Oberoi, Ophir D. Klein, Jaemin Ko, Jason H. Pomerantz, Hazel Perry, Anne Slavotinek
Publikováno v:
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 57(1)
Floating-Harbor syndrome (FHS) is a rare genetic disorder caused by heterozygous mutations in the Snf2-related CREBBP activator protein ( SRCAP) gene. The syndrome is characterized by proportional short stature, delayed bone maturation, delayed speec
Natural History and Genotype-Phenotype Correlations in 72 Individuals with SATB2-Associated Syndrome
Autor:
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
Publikováno v:
Paediatrics Publications
SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::383416bf76e65b20350d3043c8b734b4
https://ir.lib.uwo.ca/paedpub/138
https://ir.lib.uwo.ca/paedpub/138
Autor:
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
Publikováno v:
American Journal of Medical Genetics Part A. 176