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Malavika Hebbar

Showing results (1-10 of 25) with videos related to

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F1000Research|March 24, 2020
Recent advances in epilepsy genomics and genetic testingMalavika Hebbar, Heather C Mefford
BMJ Case Reports|May 15, 2016
Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2Malavika Hebbar, Katta M Girisha, Anju Shukla
European Journal of Medical Genetics|July 17, 2017
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxiaMalavika Hebbar, Katta M Girisha, Anshika Srivastava, et al.
Journal of Human Genetics|October 20, 2018
Locus and allelic heterogeneity in five families with hereditary spastic paraplegiaMalavika Hebbar, Anju Shukla, Sheela Nampoothiri, et al.
Journal of Human Genetics|April 27, 2018
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndromeMalavika Hebbar, Anil Kanthi, Anju Shukla, et al.
European Journal of Medical Genetics|August 25, 2018
Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndromeAnil Kanthi, Malavika Hebbar, Stephanie L Bielas, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γAnju Shukla, Russell P Saneto, Malavika Hebbar, et al.
American Journal of Medical Genetics. Part A|May 19, 2016
Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndromeAnju Shukla, Malavika Hebbar, Frederike L Harms, et al.
Journal of Human Genetics|December 8, 2017
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesisAnju Shukla, Aneek Das Bhowmik, Malavika Hebbar, et al.
Clinical Genetics|April 23, 2021
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemiaPurvi Majethia, Puneeth Hirivate Somashekar, Malavika Hebbar, et al.
Pageof 3

Showing results (1-10 of 25) with videos related to

Sort By:
Pageof 3
F1000Research|March 24, 2020
Recent advances in epilepsy genomics and genetic testingMalavika Hebbar, Heather C Mefford
BMJ Case Reports|May 15, 2016
Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2Malavika Hebbar, Katta M Girisha, Anju Shukla
European Journal of Medical Genetics|July 17, 2017
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxiaMalavika Hebbar, Katta M Girisha, Anshika Srivastava, et al.
Journal of Human Genetics|October 20, 2018
Locus and allelic heterogeneity in five families with hereditary spastic paraplegiaMalavika Hebbar, Anju Shukla, Sheela Nampoothiri, et al.
Journal of Human Genetics|April 27, 2018
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndromeMalavika Hebbar, Anil Kanthi, Anju Shukla, et al.
European Journal of Medical Genetics|August 25, 2018
Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndromeAnil Kanthi, Malavika Hebbar, Stephanie L Bielas, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γAnju Shukla, Russell P Saneto, Malavika Hebbar, et al.
American Journal of Medical Genetics. Part A|May 19, 2016
Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndromeAnju Shukla, Malavika Hebbar, Frederike L Harms, et al.
Journal of Human Genetics|December 8, 2017
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesisAnju Shukla, Aneek Das Bhowmik, Malavika Hebbar, et al.
Clinical Genetics|April 23, 2021
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemiaPurvi Majethia, Puneeth Hirivate Somashekar, Malavika Hebbar, et al.
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