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Vimla S Aggarwal

Showing results (11-20 of 21) with videos related to

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American Journal of Medical Genetics. Part A|September 24, 2017
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient seriesAnya Revah-Politi, Mythily Ganapathi, Louise Bier, et al.
Bone|November 7, 2021
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosisAdi Cohen, Joseph Hostyk, Evan H Baugh, et al.
HGG Advances|April 1, 2021
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromesJulie C Van De Weghe, Jessica L Giordano, Inge B Mathijssen, et al.
The New England Journal of Medicine|December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosisRonald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Clinical Journal of the American Society of Nephrology : CJASN|April 18, 2020
Pilot Study of Return of Genetic Results to Patients in Adult NephrologyJordan G Nestor, Maddalena Marasa, Hila Milo-Rasouly, et al.
American Journal of Human Genetics|August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomaliesChelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
The New England Journal of Medicine|December 27, 2018
Diagnostic Utility of Exome Sequencing for Kidney DiseaseEmily E Groopman, Maddalena Marasa, Sophia Cameron-Christie, et al.
American Journal of Medical Genetics. Part A|September 9, 2018
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literatureParisa Hemati, Anya Revah-Politi, Haim Bassan, et al.
American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|September 24, 2017
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient seriesAnya Revah-Politi, Mythily Ganapathi, Louise Bier, et al.
Bone|November 7, 2021
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosisAdi Cohen, Joseph Hostyk, Evan H Baugh, et al.
HGG Advances|April 1, 2021
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromesJulie C Van De Weghe, Jessica L Giordano, Inge B Mathijssen, et al.
The New England Journal of Medicine|December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosisRonald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Clinical Journal of the American Society of Nephrology : CJASN|April 18, 2020
Pilot Study of Return of Genetic Results to Patients in Adult NephrologyJordan G Nestor, Maddalena Marasa, Hila Milo-Rasouly, et al.
American Journal of Human Genetics|August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomaliesChelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
The New England Journal of Medicine|December 27, 2018
Diagnostic Utility of Exome Sequencing for Kidney DiseaseEmily E Groopman, Maddalena Marasa, Sophia Cameron-Christie, et al.
American Journal of Medical Genetics. Part A|September 9, 2018
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literatureParisa Hemati, Anya Revah-Politi, Haim Bassan, et al.
American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Pageof 3