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Lucy Jenkins

Showing results (31-40 of 39) with videos related to

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Neurology|April 1, 2016
Delineation of the movement disorders associated with FOXG1 mutationsApostolos Papandreou, Ruth B Schneider, Erika F Augustine, et al.
American Journal of Human Genetics|November 26, 2018
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs InversusMahmoud R Fassad, Amelia Shoemark, Marie Legendre, et al.
Journal of the American Society of Nephrology : JASN|July 3, 2019
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic SyndromeStephanie Dufek, Chris Cheshire, Adam P Levine, et al.
Journal of Medical Genetics|December 28, 2019
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohortMahmoud R Fassad, Mitali P Patel, Amelia Shoemark, et al.
Thorax|August 10, 2017
High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigationsAmelia Shoemark, Eduardo Moya, Robert A Hirst, et al.
Lancet (London, England)|February 5, 2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort studyJenny Lord, Dominic J McMullan, Ruth Y Eberhardt, et al.
Nature Communications|February 9, 2017
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3Chiara Olcese, Mitali P Patel, Amelia Shoemark, et al.
Journal of Medical Genetics|December 26, 2022
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory recordsLucy Loong, Catherine Huntley, Fiona McRonald, et al.
American Journal of Human Genetics|December 29, 2005
GJB2 mutations and degree of hearing loss: a multicenter studyRikkert L Snoeckx, Patrick L M Huygen, Delphine Feldmann, et al.
Pageof 4

Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
Neurology|April 1, 2016
Delineation of the movement disorders associated with FOXG1 mutationsApostolos Papandreou, Ruth B Schneider, Erika F Augustine, et al.
American Journal of Human Genetics|November 26, 2018
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs InversusMahmoud R Fassad, Amelia Shoemark, Marie Legendre, et al.
Journal of the American Society of Nephrology : JASN|July 3, 2019
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic SyndromeStephanie Dufek, Chris Cheshire, Adam P Levine, et al.
Journal of Medical Genetics|December 28, 2019
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohortMahmoud R Fassad, Mitali P Patel, Amelia Shoemark, et al.
Thorax|August 10, 2017
High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigationsAmelia Shoemark, Eduardo Moya, Robert A Hirst, et al.
Lancet (London, England)|February 5, 2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort studyJenny Lord, Dominic J McMullan, Ruth Y Eberhardt, et al.
Nature Communications|February 9, 2017
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3Chiara Olcese, Mitali P Patel, Amelia Shoemark, et al.
Journal of Medical Genetics|December 26, 2022
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory recordsLucy Loong, Catherine Huntley, Fiona McRonald, et al.
American Journal of Human Genetics|December 29, 2005
GJB2 mutations and degree of hearing loss: a multicenter studyRikkert L Snoeckx, Patrick L M Huygen, Delphine Feldmann, et al.
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