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Showing results (631-640 of 727) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.
Archives of Disease in Childhood|July 20, 2022
Community seroprevalence of SARS-CoV-2 in children and adolescents in England, 2019-2021Helen Ratcliffe, K S Tiley, Nick Andrews, et al.
Elife|January 17, 2023
Gain-of-function variants in the ion channel gene <i>TRPM3</i> underlie a spectrum of neurodevelopmental disordersLydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 29, 2020
Metabolic precision labeling enables selective probing of O-linked <i>N</i>-acetylgalactosamine glycosylationMarjoke F Debets, Omur Y Tastan, Simon P Wisnovsky, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 14, 2019
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.
Iscience|December 13, 2023
Serum HCoV-spike specific antibodies do not protect against subsequent SARS-CoV-2 infection in children and adolescentsHelen Ratcliffe, Karen S Tiley, Stephanie Longet, et al.
Elife|July 14, 2016
The selective estrogen receptor downregulator GDC-0810 is efficacious in diverse models of ER+ breast cancerJames D Joseph, Beatrice Darimont, Wei Zhou, et al.
Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.
Physical Review Letters|September 27, 2017
Observation of the Doubly Charmed Baryon Ξ_{cc}^{++}R Aaij, B Adeva, M Adinolfi, et al.
Pageof 73

Showing results (631-640 of 727) with videos related to

Sort By:
Pageof 73
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.
Archives of Disease in Childhood|July 20, 2022
Community seroprevalence of SARS-CoV-2 in children and adolescents in England, 2019-2021Helen Ratcliffe, K S Tiley, Nick Andrews, et al.
Elife|January 17, 2023
Gain-of-function variants in the ion channel gene <i>TRPM3</i> underlie a spectrum of neurodevelopmental disordersLydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 29, 2020
Metabolic precision labeling enables selective probing of O-linked <i>N</i>-acetylgalactosamine glycosylationMarjoke F Debets, Omur Y Tastan, Simon P Wisnovsky, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 14, 2019
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.
Iscience|December 13, 2023
Serum HCoV-spike specific antibodies do not protect against subsequent SARS-CoV-2 infection in children and adolescentsHelen Ratcliffe, Karen S Tiley, Stephanie Longet, et al.
Elife|July 14, 2016
The selective estrogen receptor downregulator GDC-0810 is efficacious in diverse models of ER+ breast cancerJames D Joseph, Beatrice Darimont, Wei Zhou, et al.
Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.
Physical Review Letters|September 27, 2017
Observation of the Doubly Charmed Baryon Ξ_{cc}^{++}R Aaij, B Adeva, M Adinolfi, et al.
Pageof 73