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Shrikant Mane

Showing results (41-50 of 144) with videos related to

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Tremor and Other Hyperkinetic Movements (New York, N.Y.)|July 24, 2015
Mutation in GM2A Leads to a Progressive Chorea-dementia SyndromeMustafa A Salih, Mohammed Z Seidahmed, Heba Y El Khashab, et al.
Pharmacogenetics and Genomics|December 17, 2008
Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activityRungnapa Hirunsatit, Elizabeth D George, Barbara K Lipska, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 7, 2014
The genetics of functional disability in schizophrenia and bipolar illness: Methods and initial results for VA cooperative study #572Philip D Harvey, Larry J Siever, Grant D Huang, et al.
Journal of Cell Science|February 18, 2022
The role of SPAG1 in the assembly of axonemal dyneins in human airway epitheliaAmanda J Smith, Ximena M Bustamante-Marin, Weining Yin, et al.
Scientific Reports|September 15, 2021
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expressionChaozhe Yang, Naoe Harafuji, Amber K O'Connor, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 2, 2021
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tractBixia Zheng, Steve Seltzsam, Chunyan Wang, et al.
The New England Journal of Medicine|May 16, 2014
A form of the metabolic syndrome associated with mutations in DYRK1BAli R Keramati, Mohsen Fathzadeh, Gwang-Woong Go, et al.
Human Genome Variation|December 27, 2016
Digenic mutations of human <i>OCRL</i> paralogs in Dent's disease type 2 associated with Chiari I malformationDaniel Duran, Sheng Chih Jin, Tyrone DeSpenza, et al.
Frontiers in Cell and Developmental Biology|May 10, 2021
Genetic Defects in <i>DNAH2</i> Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and MiceJae Yeon Hwang, Shoaib Nawaz, Jungmin Choi, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 20, 2015
Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomasM Kyle Cromer, Murim Choi, Carol Nelson-Williams, et al.
Pageof 15

Showing results (41-50 of 144) with videos related to

Sort By:
Pageof 15
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|July 24, 2015
Mutation in GM2A Leads to a Progressive Chorea-dementia SyndromeMustafa A Salih, Mohammed Z Seidahmed, Heba Y El Khashab, et al.
Pharmacogenetics and Genomics|December 17, 2008
Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activityRungnapa Hirunsatit, Elizabeth D George, Barbara K Lipska, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 7, 2014
The genetics of functional disability in schizophrenia and bipolar illness: Methods and initial results for VA cooperative study #572Philip D Harvey, Larry J Siever, Grant D Huang, et al.
Journal of Cell Science|February 18, 2022
The role of SPAG1 in the assembly of axonemal dyneins in human airway epitheliaAmanda J Smith, Ximena M Bustamante-Marin, Weining Yin, et al.
Scientific Reports|September 15, 2021
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expressionChaozhe Yang, Naoe Harafuji, Amber K O'Connor, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 2, 2021
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tractBixia Zheng, Steve Seltzsam, Chunyan Wang, et al.
The New England Journal of Medicine|May 16, 2014
A form of the metabolic syndrome associated with mutations in DYRK1BAli R Keramati, Mohsen Fathzadeh, Gwang-Woong Go, et al.
Human Genome Variation|December 27, 2016
Digenic mutations of human <i>OCRL</i> paralogs in Dent's disease type 2 associated with Chiari I malformationDaniel Duran, Sheng Chih Jin, Tyrone DeSpenza, et al.
Frontiers in Cell and Developmental Biology|May 10, 2021
Genetic Defects in <i>DNAH2</i> Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and MiceJae Yeon Hwang, Shoaib Nawaz, Jungmin Choi, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 20, 2015
Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomasM Kyle Cromer, Murim Choi, Carol Nelson-Williams, et al.
Pageof 15