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Himanshu Goel

Showing results (1-10 of 121) with videos related to

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European Journal of Human Genetics : EJHG|June 12, 2026
Tissue-specific enhanceropathy in Nail-patella syndrome: implications for surveillance and epigenetic diagnosticsHimanshu Goel
Frontiers in Neurology|July 6, 2026
Epigenetic equilibrium in chromatinopathies: network instability in neurodevelopmentHimanshu Goel
American Journal of Medical Genetics. Part A|June 24, 2026
Re: "Clinical Insights From a Case of Sifrim-Hitz-Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy"Himanshu Goel
European Journal of Human Genetics : EJHG|July 1, 2026
When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variantsHimanshu Goel
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2026
Correspondence on "Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features" by Higuchi et alHimanshu Goel
Clinical Dysmorphology|May 31, 2024
Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur-Chung syndrome in a single familyHimanshu Goel, Sheridan O'Donnell
ACS Omega|August 29, 2019
Transferable Potentials for Chloroethenes: Insights into Nonideal Solution Behavior of Environmental ContaminantsHimanshu Goel, Neeraj Rai
Birth Defects Research. Part A, Clinical and Molecular Teratology|November 23, 2013
Carbimazole/methimazole embryopathy in siblings: a possible genetic susceptibilityHimanshu Goel, Tracy Dudding
Brain : a Journal of Neurology|July 23, 2020
Another case of holoprosencephaly associated with RAD21 loss-of-function variantHimanshu Goel, Gayathri Parasivam
Genes|October 26, 2024
MicroRNA and Rare Human DiseasesHimanshu Goel, Amy Goel
Pageof 13

Showing results (1-10 of 121) with videos related to

Sort By:
Pageof 13
European Journal of Human Genetics : EJHG|June 12, 2026
Tissue-specific enhanceropathy in Nail-patella syndrome: implications for surveillance and epigenetic diagnosticsHimanshu Goel
Frontiers in Neurology|July 6, 2026
Epigenetic equilibrium in chromatinopathies: network instability in neurodevelopmentHimanshu Goel
American Journal of Medical Genetics. Part A|June 24, 2026
Re: "Clinical Insights From a Case of Sifrim-Hitz-Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy"Himanshu Goel
European Journal of Human Genetics : EJHG|July 1, 2026
When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variantsHimanshu Goel
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2026
Correspondence on "Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features" by Higuchi et alHimanshu Goel
Clinical Dysmorphology|May 31, 2024
Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur-Chung syndrome in a single familyHimanshu Goel, Sheridan O'Donnell
ACS Omega|August 29, 2019
Transferable Potentials for Chloroethenes: Insights into Nonideal Solution Behavior of Environmental ContaminantsHimanshu Goel, Neeraj Rai
Birth Defects Research. Part A, Clinical and Molecular Teratology|November 23, 2013
Carbimazole/methimazole embryopathy in siblings: a possible genetic susceptibilityHimanshu Goel, Tracy Dudding
Brain : a Journal of Neurology|July 23, 2020
Another case of holoprosencephaly associated with RAD21 loss-of-function variantHimanshu Goel, Gayathri Parasivam
Genes|October 26, 2024
MicroRNA and Rare Human DiseasesHimanshu Goel, Amy Goel
Pageof 13