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P Brooks

Showing results (811-820 of 854) with videos related to

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Ophthalmology|April 23, 2013
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damageBrian P Brooks, Amy H Thompson, Rachel J Bishop, et al.
Microbial Pathogenesis|September 11, 2012
Outcome of infection of C57BL/6 IL-10(-/-) mice with Campylobacter jejuni strains is correlated with genome content of open reading frames up- and down-regulated in vivoJ A Bell, J P Jerome, A E Plovanich-Jones, et al.
American Journal of Medical Genetics. Part A|November 16, 2007
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literatureEmily S Doherty, Felicitas Lacbawan, Donald W Hadley, et al.
Bone Marrow Transplantation|October 12, 1999
Autologous haematopoietic stem cell transplants for autoimmune disease--feasibility and transplant-related mortality. Autoimmune Disease and Lymphoma Working Parties of the European Group for Blood and Marrow Transplantation, the European League Against Rheumatism and the International Stem Cell Project for Autoimmune DiseaseA Tyndall, A Fassas, J Passweg, et al.
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|March 23, 2013
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndromeJoan C Han, Audrey Thurm, Christine Golden Williams, et al.
American Journal of Human Genetics|June 6, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutationsJennifer J Johnston, Katie L Lewis, David Ng, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Nature Communications|July 3, 2025
Variants in NR6A1 cause a novel oculo vertebral renal syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
Research Square|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Pageof 86

Showing results (811-820 of 854) with videos related to

Sort By:
Pageof 86
Ophthalmology|April 23, 2013
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damageBrian P Brooks, Amy H Thompson, Rachel J Bishop, et al.
Microbial Pathogenesis|September 11, 2012
Outcome of infection of C57BL/6 IL-10(-/-) mice with Campylobacter jejuni strains is correlated with genome content of open reading frames up- and down-regulated in vivoJ A Bell, J P Jerome, A E Plovanich-Jones, et al.
American Journal of Medical Genetics. Part A|November 16, 2007
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literatureEmily S Doherty, Felicitas Lacbawan, Donald W Hadley, et al.
Bone Marrow Transplantation|October 12, 1999
Autologous haematopoietic stem cell transplants for autoimmune disease--feasibility and transplant-related mortality. Autoimmune Disease and Lymphoma Working Parties of the European Group for Blood and Marrow Transplantation, the European League Against Rheumatism and the International Stem Cell Project for Autoimmune DiseaseA Tyndall, A Fassas, J Passweg, et al.
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|March 23, 2013
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndromeJoan C Han, Audrey Thurm, Christine Golden Williams, et al.
American Journal of Human Genetics|June 6, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutationsJennifer J Johnston, Katie L Lewis, David Ng, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Nature Communications|July 3, 2025
Variants in NR6A1 cause a novel oculo vertebral renal syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
Research Square|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Pageof 86